Search

This article discusses the use of gonadotropin treatment as an alternative to surgery for adults with congenital hypogonadotropic hypogonadism (CHH) and cryptorchidism. CHH is a condition where there is a deficiency of certain hormones, leading to absent or incomplete puberty. Cryptorchidism, or undescended testis, is more common in individuals with CHH. The article presents three case studies of adult males with CHH and persistent cryptorchidism who were successfully treated with gonadotropin therapy. The findings suggest that this treatment can be a safe and effective alternative to surgery for correcting cryptorchidism in young adult males with CHH. Further research is needed to explore this treatment in larger patient groups. The report is authored by experts in the field and provides valuable insights for library patrons conducting research in this area. [Extracted from the article]

Background: The Cut Homeobox 1 (CUX1) gene has been implicated in a number of developmental processes and has recently emerged as an important cause of developmental delay and impaired intellectual development. Individuals with variants in CUX1 have been described with a variety of co-morbidities including variations in sex development (VSD) although these features have not been closely documented. Case presentation: The proband is a 14-year-old male who presented with congenital complex hypospadias, neurodevelopmental differences, and subtle dysmorphism. A family history of neurodevelopmental differences and VSD was noted. Microarray testing and whole exome sequencing found the 46,XY proband had a large heterozygous in-frame deletion of exons 4–10 of the CUX1 gene. Conclusions: Our review of the literature has revealed that variants in CUX1 are associated with a range of VSD and suggest this gene should be considered in cases where a VSD is noted at birth, especially if there is a familial history of VSD and/or neurodevelopmental differences. Further work is required to fully investigate the role and regulation of CUX1 in sex development. [ABSTRACT FROM AUTHOR]

Spermatogonial stem cells (SSCs) are essential for the maintenance of male fertility and survival of species. Environmental conditions, notably heat stress, have been identified as important causes of male infertility and have a negative impact on SSCs. Animals with cryptorchid testes (CT) are optimal models for the study of long-term heat stress-related changes in germ cells. The effect of heat stress on germ cells differs depending on the spermatogenesis stage. Thus, verifying whether the specific phase of spermatogenesis is dependent or independent of heat stress in stallions is important. We evaluated the heat stress-related response of SSCs by comparing the relative abundance of mRNA transcripts and expression patterns of the undifferentiated embryonic cell transcription factor 1 (UTF-1) and deleted in azoospermia-like (DAZL) in the seminiferous tubules of CT and normal testes (NT) of stallions using reverse transcription-quantitative polymerase chain reaction (RT-qPCR), immunofluorescence, and western blotting. We also analyzed the relative abundance of mRNA of different proliferative markers, including minichromosome maintenance 2 (MCM2), marker of proliferation Ki-67 (MKI-67), and proliferating cell nuclear antigen (PCNA). Testicular tissues from four Thoroughbred unilateral cryptorchid postpubertal stallions were used in this study during the breeding season. The relative abundance of the mRNA transcripts of UTF-1 and MCM2 was significantly upregulated in the CT group than that of those in the NT group. In contrast, the relative abundance of the mRNA transcripts of DAZL was significantly downregulated in the CT group than that of those in the NT group. Western blot quantification showed that the relative intensity of UTF-1 protein bands was significantly higher, while that of DAZL protein bands was significantly lower in the CT group than in the NT group. Immunofluorescence studies showed that the number of germ cells immunostained with UTF-1 was significantly higher while immunostained with DAZL was significantly lower in the CT group than that in the NT group. The higher expression level of UTF-1 in the CT group shows that undifferentiated SSCs are not affected by long-term exposure to heat stress. These results also indicate that germ cells after differentiation phase are directly affected by heat-stress conditions, such as cryptorchidism, in stallions. • UTF-1 was found significantly higher and DAZL significantly lower in cryptorchid testes. • The undifferentiated SSCs are not affected by long-term exposure to heat stress. • The germ cells after differentiation phase are directly affected by heat-stress conditions. • Cryptorchid testes are optimal models for the study of long-term heat stress-related changes in germ cells. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Cutaneous scaling and associated clinical syndrome displayed in X‐linked ichthyosis mandates multidisciplinary care. Patient with ichthyosis confronts a numerous challenge to an anesthesiologist and demands a rigorous management. As these patients are very vulnerable perioperatively, meticulous care and support are utmost. Ichthyosis is a group of genetic conditions distinguished by the appearance of hyperkeratotic scales on the skin's surface. X‐linked ichthyosis results from a mutation in the steroid sulfatase (STS) gene, which encodes the steroid sulfatase enzyme. Here we report a case of a 6‐year‐old child with X‐linked ichthyosis. He presented to our operation theater for correction of left‐sided undescended testis and underwent surgery uneventfully. To handle X‐linked ichthyosis perioperatively, meticulous planning and efficient anesthetic administration are critical. [ABSTRACT FROM AUTHOR]

Aim: To assess testicular volume at puberty for boys who underwent orchidopexy at 9 or at 36 months compared to boys with spontaneous postnatal descent. Methods: At age 6 months, boys with congenital unilateral cryptorchidism were randomised to surgery at 9 or 39 months of age and followed to 16 years in parallel with boys with spontaneous postnatal descent. Ultrasound was done at 11 and 16 years to determine testicular volume. The ratio of the initially undescended testis to its scrotal counterpart was used to assess testicular growth. Results: At age 16, the ratio was lower (p < 0.00) in the late group compared to the early group. At 16 years, the spontaneously descended testes were significantly smaller than their scrotal counterparts but larger than the operated groups (early p < 0.01 and late p < 0.00). Conclusion: Our data at 16 years show that orchidopexy at 9 months results in better testicular growth compared to 3 years but did not reach the corresponding volumes of their scrotal counterparts. This indicates that earlier surgery is beneficial to testicular growth. At age 16, the postnatally descended testes were not only larger than the surgically treated testes but also exhibited impaired testicular growth. [ABSTRACT FROM AUTHOR]

Cryptorchidism and testicular torsion (TT) are relatively common conditions in clinical practice; however, sparse information about cryptorchid TT is available in the current literature. We retrospectively reviewed the clinical characteristics, treatment modalities, and long-term outcomes of pediatric patients treated for acute cryptorchid TT. We found eight patients with unilateral acute cryptorchid TT with a prevalence of 8.9% (8/90) among all TT cases. The left testis was affected in six patients. The median age of patients at the time of the surgery was 65 months (interquartile range (IQR) 4–136 months). The median duration of symptoms was 16 h (IQR 9–25 h), while the median time to treatment was 60 min (IQR 59–63 min). The most common symptoms were pain (abdominal and inguinal) and inguinal mass with no palpable testis in the ipsilateral hemiscrotum. Preoperative color Doppler ultrasonography revealed absent or decreased testicular blood flow in the affected testes in 7/8 of patients. Various degrees of testicular torsion (median 540°, min 360°, max 1260°) were found during surgery. A necrotic testis that led to orchidectomy was found in 4/8 of patients. The median follow-up period was 42.6 months (IQR 12.5–71.2 months), revealing only one patient with testicular atrophy. The final testicular salvage rate was 35%. Greater awareness among caregivers and primary care physicians about acute cryptorchid TT is required to improve their timely diagnosis and treatment. A physical examination of the external genitalia and inguinal regions should be mandatory to attain a proper diagnosis and treatment without delay. [ABSTRACT FROM AUTHOR]

There are 3 physiological waves of central hypothalamic-pituitary-gonadal (HPG) axis activity over the lifetime. The first occurs during fetal life, the second—termed "mini-puberty"—in the first months after birth, and the third at puberty. After adolescence, the axis remains active all through adulthood. Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by a deficiency in hypothalamic gonadotropin-releasing hormone (GnRH) secretion or action. In cases of severe CHH, all 3 waves of GnRH pulsatility are absent. The absence of fetal HPG axis activation manifests in around 50% of male newborns with micropenis and/or undescended testes (cryptorchidism). In these boys, the lack of the mini-puberty phase accentuates testicular immaturity. This is characterized by a low number of Sertoli cells, which are important for future reproductive capacity. Thus, absent mini-puberty will have detrimental effects on later fertility in these males. The diagnosis of CHH is often missed in infants, and even if recognized, there is no consensus on optimal therapeutic management. Here we review physiological mini-puberty and consequences of central HPG axis disorders; provide a diagnostic approach to allow for early identification of these conditions; and review current treatment options for replacement of mini-puberty in male infants with CHH. There is evidence from small case series that replacement with gonadotropins to mimic "mini-puberty" in males could have beneficial outcomes not only regarding testis descent, but also normalization of testis and penile sizes. Moreover, such therapeutic replacement regimens in disordered mini-puberty could address both reproductive and nonreproductive implications. [ABSTRACT FROM AUTHOR]

An 18-month-old male cat presented with pollakiuria and hematuria. It had experienced misty urination and dampness around the genital area since the age of three months. Physical examination displayed small preputial and urethral openings, and subcutaneous cryptorchidism. Blood tests revealed elevated levels of blood urea nitrogen, creatinine, potassium, and phosphate. Radiography revealed a distended bladder. Castration and perineal urethrostomy were conducted to correct subcutaneous cryptorchidism and relieve urinary incontinence due to meatal stenosis and phimosis. Normal postoperative urination was observed; no complications were reported during the follow-up. This case highlights the successful surgical intervention of meatal stenosis concurrent with phimosis. [ABSTRACT FROM AUTHOR]

Background Objective Materials and methods Results Conclusion Despite cryptorchidism being a common genital abnormality in male newborns with significant prevalence variations globally, there is a notable scarcity of epidemiological data on this condition in China.This study aimed to delineate the prevalence pattern of cryptorchidism in Chinese population over the past 15 years using nationwide surveillance data.Data from the China National Population‐based Birth Defects Surveillance System (2007–2021) were analyzed to calculate the prevalence rates of cryptorchidism, stratified by birth year, maternal age, maternal residence, and geographic region. Adjusted prevalence rate ratios were computed using Poisson regression, while trends in prevalence and average annual percent change (AAPC) were assessed using the joinpoint regression model.During the study period, a total of 1,833 cases of cryptorchidism were identified among 2,565,964 full‐term male births, resulting in prevalence rates of 7.14, 5.60, and 1.54 per 10,000 births for overall, isolated, and associated cryptorchidism, respectively. The overall prevalence increased from 3.86 to 11.20 per 10,000 births, with an AAPC of 7.9% (95% confidence interval: 5.5–11.0). Significant variations were observed across maternal age (< 20 years, 7.62/10,000; 20–24 years, 6.14/10,000; 25–29 years, 6.96/10,000; 30–34 years, 7.48/10,000; ≥35 years, 9.22/10,000), maternal residence (urban vs. rural, 10.99/10,000 vs. 2.86/10,000), and geographic region (eastern, 12.38/10,000; central, 2.36/10,000; western, 2.63/10,000). Approximately one‐third of cryptorchidism cases were bilaterally, while two‐thirds were unilateral. Commonly observed associated abnormalities included congenital hydrocele testis, as well as anomalies in the genital organs, circulatory system, and musculoskeletal system.Despite lower rates compared to other countries, the increasing trend in prevalence of cryptorchidism necessitates further investigation and intervention. [ABSTRACT FROM AUTHOR]

Background: Acquired cryptorchidism or acquired undescended testis (UDT) is defined as the displacement of a testicle outside the scrotal sac after normal descent has been verified. There are still no clear guidelines on its management. Objectives: To analyze patients who underwent surgery for UDT in our setting to determine the prevalence of acquired cryptorchidism and to analyze the demographic and clinical characteristics of the population of children diagnosed with both acquired and congenital cryptorchidism, the age of presentation of both entities and the percentage of bilateral involvement. Materials and methods: This was a retrospective descriptive study using data from the clinical history of patients who underwent surgery for cryptorchidism between 2011 and 2022. The type of cryptorchidism, acquired or congenital, was recorded. Demographic and clinical data were collected. Results: A total of 367 patients and 442 testicular units were included in the study (75 patients had bilateral involvement). In 54.75% (95% CI: 50.09%–59.40%) of the cases analyzed, cryptorchidism was acquired, and the mean age at the time of surgery was 7.39 years (SD 2.95). Twenty percent (95% CI: 16.29%–24.58%) of the patients presented with bilateral cryptorchidism and 64% (95% CI: 52.88%–75.11%) out of them were acquired on both sides. The diagnosis was metachronous in 42.6% (95% CI: 31.21%–54.12%) of bilateral cryptorchidism cases. Discussion and conclusion: Acquired cryptorchidism accounts for more than half of cryptorchidism cases requiring surgery in our setting, with a clearly different age of presentation than that for congenital cryptorchidism. Therefore, it is necessary to monitor the presence of the testes in the scrotal sac until adolescence. It is also important to monitor patients with a history of cryptorchidism, not only for the management of the operated testicle but also for the early identification of patients who will develop metachronous contralateral cryptorchidism. [ABSTRACT FROM AUTHOR]

The American Urological Association guidelines recommend against the performance of ultrasound and other imaging modalities in the evaluation of patients with cryptorchidism before expert consultation. We aimed to examine our institutional experience with cryptorchidism and measure adherence to currently available guidelines. An institutional review board–approved retrospective review of ultrasound utilization in the evaluation of patients with cryptorchidism was performed from June 1, 2016, to June 30, 2019, at a single tertiary level pediatric hospital. We identified 1796 patients evaluated in surgical clinics for cryptorchidism. Surgical intervention was performed in 75.2% (n = 1351) of the entire cohort. Ultrasound was performed in 42% (n = 754), most of which were ordered by referring physicians (91% n = 686). Of those who received an ultrasound, surgical intervention was performed in 78% (n = 588). Those 166 patients (22%) who did not undergo surgical intervention were referred with ultrasounds suggesting inguinal testes; however, all had normal physical examinations or mildly retractile testes at the time of consultation and were discharged from the outpatient clinic. There were 597 patients referred without an ultrasound, 81% (n = 483) were confirmed to have cryptorchidism at the time of specialist physical examination and underwent definitive surgical intervention, the remainder (19%, n = 114) were discharged from the outpatient clinics. Ultrasound evaluation of cryptorchidism continues despite high-quality evidence-based guidelines that recommend otherwise, as they should have little to no bearing on the surgeon's decision to operate or the type of operation. Instead, physical examination findings should guide surgical planning. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to compare the clinical outcomes of two surgical approaches, laparoscopic-assisted scrotal incision and conventional inguinal–scrotal incision, for treating cryptorchidism with unobliterated processus vaginalis. Methods: Clinical data from 60 pediatric patients with inguinal cryptorchidism who were admitted to our institution between January 2018 and January 2022 were retrospectively analyzed. Depending on the surgical technique used, the patients were split into two groups: the laparoscopic group (n = 30) underwent a laparoscopic-assisted scrotal incision, whereas the conventional group (n = 30) underwent a conventional inguinal–scrotal incision for testicular descent and fixation. The length of the procedure, intraoperative blood loss, and the typical hospital stay following the procedure were compared between the two groups. Also assessed was the frequency of postoperative complications including wound infection and hematoma development. Results: The laparoscopic group demonstrated a notably shortened average surgical duration compared with the traditional group, and this discrepancy held statistical significance (P = .017). Moreover, the laparoscopic approach resulted in a reduced volume of intraoperative blood loss, with a statistically significant distinction (P = .002), along with a decreased average length of hospital stay after surgery, also statistically significant (P = .009). Testicular retraction, atrophy, inguinal hernias, or hydrocele were not present in any group. Although the difference between the laparoscopic and open groups was not statistically significant (P > .05), the laparoscopic group saw a reduced frequency of scrotal hematoma. The frequency of wound infection was also decreased in the laparoscopic group compared with the open group, although there was no statistically significant difference (P > .05). Conclusion: The laparoscopic-assisted scrotal incision approach for testicular descent and fixation offers precise localization of cryptorchidism, reduced surgical trauma, shorter postoperative recovery time, and results in smaller scars with minimal tissue damage. The procedure showcases enhanced overall clinical effectiveness, fewer postoperative complications, heightened safety, and superior cosmetic outcomes. [ABSTRACT FROM AUTHOR]

Background This case describes a Reeves' muntjac deer (Muntiacus reevesi) with a suspected undescended testicle or cryptorchidism. The cryptorchid testicle could not be palpated or visualized with sonography. Contrast-enhanced computed tomography (CT) imaging was performed to avoid an exploratory surgical operation, but no cryptorchid testicle was discovered. The final diagnosis was a singular testicular anorchia. Discussion Cryptorchidism and hypogonadism affect a relatively small population of male infants but are the most common male genitourinary anomalies. Identifying the location of the undescended testicle is paramount because surgical intervention should occur before the individual's first birthday. Although sonography and magnetic resonance imaging can help identify the location of undescended testicles, when the testicle is intra-abdominal, surgical intervention often is required to identify or confirm the location. Conclusion Although CT is not a first-line imaging modality in human infants with suspected cryptorchidism because of the associated radiation exposure, this case serves as evidence that it might be useful. [ABSTRACT FROM AUTHOR]

Purpose: Cryptorchidism is a well-defined risk factor for testicular germ cell tumors, whereas the underlying mechanisms have not been fully elucidated. Surgical procedures to reposition undescended testicles into the scrotum (orchidopexy) in early childhood are recommended both to increase fertility potential and to reduce the risk of developing testicular tumors. However, treatment in the post-pubertal period is controversial. The aim of this study is to review the histopathology of orchiectomy specimens and determination of spermatogenesis in post-pubertal patients with non-treated cryptorchidism. Methods: Retrospective chart review was performed to assess the occurrence of TGCTs and determine spermatogenesis in post-pubertal individuals who underwent inguinal orchiectomy for undescended testis between January 2010 and December 2019. Age at the time of surgery, laterality, location of the undescended testis and pathology results were evaluated. All pathology specimens were reviewed by a blinded pathologist. Results: There were 23 patients in the cohort with a mean age of 21 years (range 13–46 years). All testes were in the inguinal canal. Our results indicated that 1 patient had seminoma. In the histological evaluation of the remaining 22 patients in whom no tumor was detected, normal spermatogenesis was not observed in any patient. Further, seminiferous tubules were not found in 19 patients. Maturation arrest was detected in the remaining 3 patients. Conclusion: Testicular germ cell carcinoma was found in 4% of the patients who underwent post-pubertal orchiectomy. In addition, none of the undescended testes had normal spermatogenetic activity. Thus, orchiectomy should be considered in post-pubertal males with unilateral undescended testis that do not need the endocrinological activity of the testis. [ABSTRACT FROM AUTHOR]

Abstract Background The Cut Homeobox 1 (CUX1) gene has been implicated in a number of developmental processes and has recently emerged as an important cause of developmental delay and impaired intellectual development. Individuals with variants in CUX1 have been described with a variety of co-morbidities including variations in sex development (VSD) although these features have not been closely documented. Case presentation The proband is a 14-year-old male who presented with congenital complex hypospadias, neurodevelopmental differences, and subtle dysmorphism. A family history of neurodevelopmental differences and VSD was noted. Microarray testing and whole exome sequencing found the 46,XY proband had a large heterozygous in-frame deletion of exons 4–10 of the CUX1 gene. Conclusions Our review of the literature has revealed that variants in CUX1 are associated with a range of VSD and suggest this gene should be considered in cases where a VSD is noted at birth, especially if there is a familial history of VSD and/or neurodevelopmental differences. Further work is required to fully investigate the role and regulation of CUX1 in sex development.

Cross or transverse testicular ectopia is a rare congenital condition of the reproductive system that involves the migration of a testicle into the opposite inguinal canal, along with the presence of an inguinal hernia on the same side as the ectopic testicle. In the modern literature, there are discussions about diagnostic issues, particularly the use of ultrasound scanning and magnetic resonance imaging to diagnose this condition. However, it is the results of laparoscopic examination that determine the most accurate criteria for surgical treatment. Many publications discuss the choice of surgical tactics, including separate transabdominal orchiopexy, with or without laparoscopic assistance; transeptal orchiopexy on both sides of the scrotum; and rare cases of orchiopexy for both testicles on one side of the scrotum. Ultimately, the choice of surgery depends on the individual characteristics and needs of the patient, and the surgeon should make the decision based on these factors. The article describes, for the first time, a case of familial testicular ectopia with bilateral inguinal hernia in siblings who underwent surgery using laparoscopic assistance. The method used was single-trocar laparoscopic access with transscrotal transeptal orchiopexy and simultaneous bilateral puncture of the inguinal ring and suture. During the long-term follow-up period (50 and 20 months after surgery) in both siblings, there were no signs of malformation or atrophy of the gonads.

Introduction The aim of this study was to assess the adherence to the European Association of Urology (EAU)/European Society for Pediatric Urology (ESPU) 2016 guidelines in the management of undescended testes (UDT). Materials and Methods An online questionnaire was sent in 2023 to members of the European Paediatric Surgeons' Association (EUPSA). Results Among 157 members, 46 and 44% perform orchidopexy before 12 and 18 months, respectively. In total, 92% recommend conservative management of retractile testes and 58% offer close follow-up. In case of nonpalpable testes, 78% favor laparoscopy and 18% ultrasonography. If a peeping testicle is identified at laparoscopy, 76% perform a single-stage orchidopexy. In case of a high testicle, a staged procedure is preferred (84%). Management of blind-ending spermatic vessel is heterogenous with a majority ending the operation, followed by exploration of the inguinal canal and removal of the testicular nubbin with optional fixation of the contralateral testis. Only a minority recommends hormonal therapy to improve fertility potential in bilateral UDT. A majority (59%) discuss testis removal in UDT in postpubertal boys. In addition, 77% declare following the EAU/ESPU guidelines. Unawareness of guidelines was the most common reason cited for nonadherence. International guidelines were found to have the greatest influence on clinical practice; however, personal experience and institutional practice seem to play an important role. Conclusion Most recommendations of the EAU/ESPU guidelines are being followed by EUPSA members; however, personal and institutional practice impact decision making. Hormonal therapy in bilateral UDT, management of vanishing testes, and UDT in postpubertal boys could be improved. [ABSTRACT FROM AUTHOR]

Purpose: Patients with non-palpable testes has numerous treatment options, the most effective treatment is still controversial. Laparoscopy has nowadays gained the trust as the most reliable modality for the management of impalpable testis. The aim of our study was to retrospectively analyse the laparoscopic and open orchidopexy procedures and report the outcome of our series. Material and methods: 120 patients with 130 non palpable testes with a mean age of patients about 2.7 years who had undergone orchidopexy by open and laparoscopic methods over past 8 years. Results: Mean age of open group was similar to laparoscopic group (2.7 ± 1.7 vs 2.5 ± 1.5 years; p > 0.05). 10 patients (8.33%) presented with bilateral non palpable testes. 10 testes from the open group and 8 from the laparoscopic group were of vanishing variety. Fowler -Stephens staged procedure was done for 4 testes in laparoscopic group. The mean operative time was more in the laparoscopic group than the open (63min vs 47min). Laparoscopic orchidopexy group had generally lesser use of analgesics. The mean hospital stay between the open and laparoscopic groups was 2.1 vs 1.3 days (p

Abstract Background This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management. Case Presentation The male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation. Discussion and conclusions Our findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases.

ABSTRACT In 2007 the Nordic group came to the following unanimous conclusions: In general, hormonal treatment is not recommended, considering the poor immediate results and the possible long-term adverse effects on spermatogenesis. Thus, surgery is to be preferred. However, defective mini puberty inducing insufficient gonadotropin secretion is one of the most common causes of nonobstructive azoospermia in men suffering from congenital isolated unilateral or bilateral cryptorchidism. The extent of alteration in the unilateral undescended testis correlate with the contralateral descended testis, indicating that unilateral cryptorchidism is a bilateral disease. Idiopathic central hypogonadism explains the phenomenon of defective mini puberty in otherwise healthy cryptorchid boys. We therefore recommend hormonal treatment for cryptorchid boys with defective mini puberty. Gonadotropin releasing hormone agonist (GnRHa) treatment following surgery to correct cryptorchidism restores mini puberty via endocrinological and transcriptional effects and prevents adult infertility in most cases. Several genes are important for central hypogonadotropic hypogonadism in mammals, including many that are transcribed in both the brain and testis. At the molecular level, there is no convincing evidence that heat shock is responsible for the observed pathological testicular changes. Thus, impaired transformation of gonocytes is not the result of temperature stress but rather a hormonal imbalance. Cryptorchidism should therefore be considered a serious andrological problem that cannot be successfully treated by early orchidopexy alone.

Background: The last decades revealed new scientific knowledge regarding the fertility and potential malignancy of undescended testis AQ2(UDT). Accordingly, many guidelines changed their recommendation concerning timing of therapy, with the goal of an earlier time of surgery. Methods: We analyzed the number of new diagnosis and performed surgeries in predefined age groups provided by the obligatory annual reports of German hospitals in the reimbursement.INFO"-tool between 2006 and 2020. Results: Overall, 124,741 cases were analyzed. We showed a slight increase in performed surgeries in the first year by 2% per year with a main increase till 2011, a constant number of surgeries between first and 4th year and a decrease of surgeries between 5 and 14th year of living with a main decrease till 2009 by 3% per year. Conclusion: Even if our results illustrate an increasing adaption of the guideline's recommendation, there is still a significant number of patients who receive later treatment. More research about the reasons and circumstances for the latter is needed. [ABSTRACT FROM AUTHOR]

Summary Background Objective Study design Methods Results Main limitations Conclusions There is limited information regarding cryptorchid teratomas other than a few case report studies, and almost all involved standard‐frame horse breeds.To investigate the prevalence of testicular teratoma in horses presented for cryptorchidism and to determine its relationship with horse breeds.Retrospective case series.Medical records from all horses presented for cryptorchidism that underwent surgical cryptorchidectomy between January 2010 and August 2021 in a single institution were reviewed. Additionally, cryptorchid horses with a histopathological diagnosis of testicular teratoma were further analysed.Cryptorchidectomy was performed in 220 horses (253 testicles: 187 unilateral and 33 bilateral). Left abdominal cryptorchidism was the most common presentation (101/187, 54%), followed by right abdominal (37/187, 20%) and then, right (27/187, 14%) and left (22/187, 12%) inguinal. A teratoma was confirmed via histopathology in two Draughts, one Draught‐related breed (Canadian horse) and one Paint. Unfortunately, a pre‐operative diagnosis of teratoma was not reached in 3/3 horses where only routine caudal ultrasonography was performed. Draught and draught‐related breeds represented 6% (2219/36,857) of the hospital caseload during the study period and 11% (24/220) of the entire cryptorchid population. Draught and draught‐related breeds had a 37.1 relative risk ratio of having a cryptorchid teratoma (95% CI: 7.85–175.73) in this study. However, this may have been coincidental or specific to our geographic location given the small number of affected cases.Retrospective nature of the study, small population of horses, one institution and by extent one geographical location.We found that cryptorchid teratomas are encountered with a high prevalence in our draught and draught‐related breed caseload. A thorough pre‐operative ultrasound, including cranio‐ventral abdomen, may be recommended in cryptorchids to facilitate identification of large teratomas lying cranially within the abdomen as well as surgical planning. [ABSTRACT FROM AUTHOR]

Key Clinical Message: In babies presenting with an omphalocele, other components of the prune belly syndrome should be scrutinized for early diagnosis and timely intervention. A male baby on his 13th day of life presented with an omphalocele. On evaluation, he had congenital absence of left kidney and bilateral cryptorchidism. Therefore, he was diagnosed with prune belly syndrome. He responded well to abdminoplasty, and wait and watch policy was applied for his cryptorchidism. [ABSTRACT FROM AUTHOR]

A 1‐year‐old European shorthair male cat with a normally developed penis was subjected to genetic, endocrinological and histological studies due to unilateral cryptorchidism. The blood testosterone level was typical for males, while the level of anti‐Mullerian hormone (AMH) was very low. Surgical removal of internal reproductive organs was followed by a histological study, which revealed inactive testicles with neoplastic changes and derivatives of Mullerian ducts. Cytogenetic analysis showed a normal XY sex chromosome complement and molecular analysis confirmed the presence of Y‐linked genes (SRY and ZFY). Although the level of AMH was low, two normal copies of the AMH gene were found using droplet digital PCR (ddPCR). Analysis of the coding sequences of two candidate genes (AMH and AMHR2) for persistent Mullerian duct syndrome (PMDS) in the affected cat and in control male cats (n = 24) was performed using the Sanger sequencing method. In the affected cat, homozygosity was found for three novel missense variants in Exon 1 (one SNP) and Exon 5 (two SNPs) of AMH, but the same homozygous genotypes were also observed in one and two control cats, respectively, whose sex development was not examined. Three known synonymous variants with homozygous status were found in AMHR2. We conclude that the DNA variants identified in AMH and AMHR2 are not responsible for PMDS in the affected cat. [ABSTRACT FROM AUTHOR]

Simple Summary: Management of breeding stallions is crucial to equine reproduction. The long-life use of a stallion for a breeding career is the ultimate objective, whether it happens through natural mating or through semen collection and artificial insemination. Stud farm veterinarians should be aware of the techniques used to evaluate testicular function and the diagnostic approach to testicular disorders in cases of emergency. This paper presents the clinical methods used to assess testicular health, including palpation, ultrasonography, biopsy, and fine-needle aspiration. The discussion of testicular disorders is broken down into four categories: congenital (present at birth) disorders (cryptorchidism, monorchidism, and testicular hypoplasia), differential diagnosis of scrotal enlargement, differential diagnosis of causes of progressive testicular enlargement, and differential diagnosis of testicular asymmetry or reduction in size with an emphasis on testicular degeneration. Severe clinical signs often accompany a sudden increase in testicular size and are a major cause of stallions being referred for surgery. Testicular disorders are illustrated with clinical cases seen by the authors. Management of breeding stallions is crucial to equine reproduction. The longevity of the breeding career is the ultimate objective, whether the stallion is used for natural cover or for semen collection and artificial insemination. Stud farm veterinarians should be aware of the techniques used to evaluate testicular function and the diagnostic approach to testicular disorders in cases of emergency. This paper presents the clinical methods used to evaluate testicular health, including palpation, ultrasonography, biopsy, and fine-needle aspiration. The discussion of testicular disorders is broken down into four categories: congenital disorders (cryptorchidism, monorchidism, and testicular hypoplasia), differential diagnosis of scrotal enlargement, differential diagnosis of causes of progressive testicular enlargement, and differential diagnosis of testicular asymmetry or reduction in size with an emphasis on testicular degeneration. The sudden increase in testicular size is often accompanied by severe clinical signs and is a major cause for referral of stallion for surgery. Testicular disorders are illustrated with clinical cases seen by the authors. [ABSTRACT FROM AUTHOR]

Purpose: To identify the genetic cause of a cryptorchidism patient carrying a non-canonical splicing variant highlighted by SPCards platform in RXFP2 and to provide a comprehensive overview of RXFP2 variants with cryptorchidism correlation. Methods: We identified a homozygous non-canonical splicing variant by whole-exome sequencing and Sanger sequencing in a case with cryptorchidism and non-obstructive azoospermia (NOA). As the pathogenicity of this non-canonical splicing variant remained unclear, we initially utilized the SPCards platform to predict its pathogenicity. Subsequently, we employed a minigene splicing assay to further evaluate the influence of the identified splicing variant. Microdissection testicular sperm extraction (micro-TESE) combined with intracytoplasmic sperm injection (ICSI) was performed. PubMed and Human Genome Variant Database (HGMD) were queried to search for RXFP2 variants. Results: We identified a homozygous non-canonical splicing variant (NM_130806: c.1376-12A > G) in RXFP2, and confirmed this variant caused aberrant splicing of exons 15 and 16 of the RXFP2 gene: 11 bases were added in front of exon 16, leading to an abnormal transcript initiation and a frameshift. Fortunately, the patient successfully obtained his biological offspring through micro-TESE combined with ICSI. Four cryptorchidism-associated variants in RXFP2 from 90 patients with cryptorchidism were identified through a literature search in PubMed and HGMD, with different inheritance patterns. Conclusion: This is the first cryptorchidism case carrying a novel causative non-canonical splicing RXFP2 variant. The combined approach of micro-TESE and ICSI contributed to an optimal pregnancy outcome. Our literature review demonstrated that RXFP2 variants caused cryptorchidism in a recessive inheritance pattern, rather than a dominant pattern. [ABSTRACT FROM AUTHOR]

Background: In otherwise normal boys with undescended testes, early orchidopexy is recommended to preserve fertility, to decrease the risk of testicular cancer, and to facilitate its detection. Indeed, compared to the general population, the risk of testicular cancer is increased two- to eight-fold in isolated cryptorchidism and usually occurs before the age of 40 years. By contrast, when cryptorchidism is associated with congenital hypogonadotropic hypogonadism, the risk of testicular cancer is unknown. Objective: The aim of this study was to determine the characteristics of testicular cancer when cryptorchidism is associated with congenital hypogonadotropic hypogonadism. Methods: We conducted a PubMed research without date limits including the following key words: hypogonadism, hypogonadotropic hypogonadism, testicular cancer, testicular germ cell tumors, undescended testis, Kallmann syndrome, FSH, AFP (α foeto protein), βHCG. Results: Only 3 patients with testicular cancer and congenital hypogonadotropic hypogonadism have been published in the past 4 decades and two were diagnosed at 50 and 64 years. Conclusion: Gonadotropin deficiency may protect against testicular cancer, and orchidopexy in this context may be deferred. [ABSTRACT FROM AUTHOR]

Background: This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management. Case Presentation: The male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation. Discussion and conclusions: Our findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases. [ABSTRACT FROM AUTHOR]

RASopathies are syndromes caused by congenital defects in the Ras/mitogenactivated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000. Patients are typically identified in childhood based on diverse characteristic features, including cryptorchidism (CR) in >50% of affected men. As CR predisposes to spermatogenic failure (SPGF; total sperm count per ejaculate 0-39 million), we hypothesized that men seeking infertility management include cases with undiagnosed RASopathies. Likely pathogenic or pathogenic (LP/P) variants in 22 RASopathy-linked genes were screened in 521 idiopathic SPGF patients (including 155 CR cases) and 323 normozoospermic controls using exome sequencing. All 844 men were recruited to the ESTonian ANDrology (ESTAND) cohort and underwent identical andrological phenotyping. RASopathy-specific variant interpretation guidelines were used for pathogenicity assessment. LP/P variants were identified in PTPN11 (two), SOS1 (three), SOS2 (one), LZTR1 (one), SPRED1 (one), NF1 (one), and MAP2K1 (one). The findings affected six of 155 cases with CR and SPGF, three of 366 men with SPGF only, and one (of 323) normozoospermic subfertile man. The subgroup "CR and SPGF" had over 13-fold enrichment of findings compared to controls (3.9% vs. 0.3%; Fisher's exact test, p = 5.5 × 10-3). All ESTAND subjects with LP/P variants in the Ras/MAPK pathway genes presented congenital genitourinary anomalies, skeletal and joint conditions, and other RASopathy-linked health concerns. Rare forms of malignancies (schwannomatosis and pancreatic and testicular cancer) were reported on four occasions. The Genetics of Male Infertility Initiative (GEMINI) cohort (1,416 SPGF cases and 317 fertile men) was used to validate the outcome. LP/P variants in PTPN11 (three), LZTR1 (three), and MRAS (one) were identified in six SPGF cases (including 4/31 GEMINI cases with CR) and one normozoospermic man. Undiagnosed RASopathies were detected in total for 17 ESTAND and GEMINI subjects, 15 SPGF patients (10 with CR), and two fertile men. Affected RASopathy genes showed high expression in spermatogenic and testicular somatic cells. In conclusion, congenital defects in the Ras/MAPK pathway genes represent a new congenital etiology of syndromic male infertility. Undiagnosed RASopathies were especially enriched among patients with a history of cryptorchidism. Given the relationship between RASopathies and other conditions, infertile men found to have this molecular diagnosis should be evaluated for known RASopathy-linked health concerns, including specific rare malignancies. [ABSTRACT FROM AUTHOR]

Congenital cryptorchidism, also known as undescended testis, is the condition where one or both testes are not in place in the scrotum at birth and is one of the most common birth defects in boys. Temporal trends and geographic variation in the prevalence of cryptorchidism from 1% to 9% have been reported in prospective cohort studies. The testes develop in the abdominal cavity and descend to the scrotum in two phases, which should be completed by gestational week 35. Thus, the risk of cryptorchidism is higher in preterm boys. In many cases a spontaneous descent occurs during the first months of life during the surge of gonadotropins and testosterone. If not, the testis is usually brought down to the scrotum, typically by surgery, to increase future fertility chances and facilitate cancer surveillance. The increasing frequency of impaired semen quality and testicular cancer, with which cryptorchidism is associated, represents a concern for male reproductive health in general and a need to understand its risk factors. The risk of cryptorchidism is closely related to gestational factors (preterm birth, low birth weight and intrauterine growth restriction), and especially maternal smoking seems to be a risk factor. Evidence is accumulating that the increasing prevalence of cryptorchidism is also related to prenatal exposure to environmental chemicals, including endocrine disrupting compounds. This association has been corroborated in rodents and supported by ecological studies. Conducting human studies to assess the effect of endocrine disrupting chemicals and their interactions is, however, challenged by the widespread concomitant exposure of all humans to a wide range of chemicals, the combined effect of which and their interactions are highly complex. [ABSTRACT FROM AUTHOR]

Objectives: Intra-abdominal testes are located in a variety of intra-abdominal positions, most less than 2 cm from the internal ring. Various surgical techniques of laparoscopic orchiopexy have been described to date. The aim of this study was to evaluate the safety and long-term efficacy of a single-stage, vessel-preserving, laparoscopic orchiopexy for intra-abdominal testes in pediatric patients. Methods: A retrospective search of the medical records of 32 children (34 testes) who underwent single-stage, vessel preserving, laparoscopic orchiopexy for intra-abdominal testes between 1 January 2014 and 31 December 2023 was performed. Single-stage laparoscopic orchiopexies were performed in all patients for whom sufficient length of the spermatic cord was achieved during the procedure. The volume of each patient's testes was measured using ultrasound before and 6 months after laparoscopic orchiopexy. The main outcome of this study was testicular volume before and after the procedure. The secondary outcomes were the occurrence of early and late complications, the duration of surgery, and the length of hospital stay. Results: The median age at the time of surgery was 10 months (interquartile range—IQR 9, 13). The majority of the children (n = 24; 75%) were less than 12 months old at the time of surgery. A normal testis was found in 24 patients (70.6%), while a hypotrophic testis was visible in 10 cases (29.4%). The majority of the testes were located near the internal ring (n = 19; 55.9%), while in the remaining cases, the testes were located near the iliac blood vessels. The median duration of the surgical procedure was 37.5 min (IQR 33, 42.5). The duration of hospitalization was one day for all the children. No intraoperative complications were observed. One child had a wound infection at the site of the umbilical trocar, which was treated conservatively. In two cases (5.5%), testicular atrophy was detected during long-term follow-up. In three cases, the testis was found in a higher position in the scrotum during the follow-up period, but in two cases, the position was normal during the follow-up period, while in one case, the position in the scrotum remained unchanged. At long-term follow-up with a median of 35 months (IQR 19, 60.5), the overall success rate was 94.5%. The median testicular volume at 6-month follow-up increased from 0.31 mL (IQR 0.28, 0.43) to 0.40 mL (IQR 0.33, 0.53) (p = 0.017). Conclusions: Single-stage, vessel-preserving, laparoscopic orchiopexies for intra-abdominal testes are safe and effective in pediatric patients in whom adequate spermatic cord length can be achieved during the procedure. [ABSTRACT FROM AUTHOR]

Cryptorchidism is defined as the extra-scrotal position of the testes. It is a common disorder in male children, but rarely in adult patients. The association of cryptorchidism with hernia is a common finding in childhood, but is not frequent in adults or the elderly. Herein, we report a series of three cases (28-, 24-, and 34-year-old men) of adult inguinal hernia combined with cryptorchidism successfully managed by laparoscopic surgery under the same operative view. Laparoscopic transabdominal preperitoneal repair and orchiectomy were performed in all patients. No complications occurred in the postoperative period, and the patients were discharged on the first or second postoperative day. Pathological examination of the specimens revealed atrophic testes without malignancy. No hernia recurrence was observed during follow-up. The laparoscopic approach in the combined pathology of inguinal hernia and cryptorchidism is feasible in adult patients and has multiple advantages in terms of diagnosis and management. [ABSTRACT FROM AUTHOR]

STUDY QUESTION Do different boys with different types of cryptorchidism exhibit different anogenital distances (AGDs)? SUMMARY ANSWER Length of AGD seemed to differ in different groups of patients with cryptorchidism. WHAT IS KNOWN ALREADY AGD, which is used as an indicator of prenatal androgen action, tends to be shorter in boys with cryptorchidism compared to unaffected boys. Shorter AGDs have also been reported in boys with hypospadias, in men with poor semen quality, and in men with testicular cancer. STUDY DESIGN, SIZE, DURATION A prospective descriptive cohort study was performed using data from consecutively selected boys with cryptorchidism (n = 169) operated in a single center over a period of 3 years (September 2019 to October 2022). PARTICIPANTS/MATERIALS, SETTING, METHODS AGD was measured in 169 infant boys, at 3 to 26 months of age, during anesthesia with a vernier caliper measuring the distance from the anus to the base of the scrotum (AGDAS) and from the anus to the anterior base of the penis (AGDAP) in two body positions according to the methods by 'The Infant Development and the Environment Study' (TIDES) and 'Cambridge Baby Growth Study', resulting in four mean values per patient (TIDES AGDAS/AP and Cambridge AGDAS/AP). Normal values for AGD by age were set by our hospital Department of Growth and Reproduction based on a large cohort of healthy infant boys (n = 1940). Testicular biopsies were performed at orchidopexy as a clinical routine. The germ cell number (G/T) and type Ad spermatogonia number (AdS/T) per cross-sectional tubule of at least 100 and 250 tubules, respectively were measured and related to normal samples. Blood samples were obtained by venipuncture for measuring serum LH, FSH, and inhibin B. They were analyzed in our hospital Department of Growth and Reproduction where the normal reference was also established. Correlations between the four mean AGD measurements for each boy were evaluated by Spearman rank correlation analyses. The AGD measurement of every boy was transferred to the multiple of the median (MoM) of the normal AGD for age and named MoM AGD. MAIN RESULTS AND THE ROLE OF CHANCE There were 104 boysoperated for unilateral, and 47 boys operated for bilateral, undescended testes, whereas 18 boys had vanished testis including one boy with bilateral vanished testes. Only 6% of cases with vanished testes had a MoM AGD higher than the normal median compared to 32% with undescended testes (P  < 0.05). MoM AGD increased with the age at surgery for boys with vanished testis (Spearman r  = 0.44), but not for boys with undescended testes (Spearman r  = 0.14). Boys with bilateral cryptorchidism had longer AGDs and more often had hypogonadotropic hypogonadism than boys with unilateral cryptorchidism (P  < 0.005) and (P  < 0.000001). LIMITATIONS, REASONS FOR CAUTION Although being the largest published material of AGD measurements of infant boys with cryptorchidism, one limitation of this study covers the quite small number of patients in the different groups, which may decrease the statistical power. Another limitation involves the sparse normal reference material on G/T and AdS/T. Finally, there are currently no longitudinal studies evaluating AGD from birth to adulthood and evaluating childhood AGD in relation to fertility outcome. Our study is hypothesis generating and therefore the interpretation of the results should be regarded as exploratory rather than reaching definite conclusions. WIDER IMPLICATIONS OF THE FINDINGS The study findings are in agreement with literature as the total included group of boys with cryptorchidism exhibited shorter than normal AGDs. However, new insights were demonstrated. Boys with vanished testis had shorter AGDs compared to unaffected boys and to boys with undescended testes. This finding challenges the current concept of AGD being determined in 'the masculinization programming window' in Week 8 to 14 of gestation. Furthermore, boys with bilateral cryptorchidism had longer AGDs and more often had hypogonadotropic hypogonadism than boys with unilateral cryptorchidism, suggesting that the lack of fetal androgen in hypogonadotropic hypogonadism is not that significant. STUDY FUNDING/COMPETING INTEREST(S) No external funding was used and no competing interests are declared. TRIAL REGISTRATION NUMBER The trial was not registered in an ICMJE-recognized trial registry. [ABSTRACT FROM AUTHOR]

Cryptorchidism affects spermatogenesis and testis development, often resulting in stallion subfertility/infertility. This study aims to identify the specific germ cells impacted by cryptorchism in stallions. In a previous study, we found that PGP9.5 and VASA are molecular markers expressed in different germ cells within stallions. Herein, we assessed the heat stress-induced response of spermatogonial stem cells (SSCs) in the seminiferous tubules (ST) of cryptorchid stallion testes (CST) and normal stallion testes (NST). This goal was accomplished by comparing PGP9.5 and VASA expression patterns through reverse transcription quantitative PCR and immunofluorescence assays. We also compared the cross-sectional ST area between groups. Six post-pubertal Thoroughbred unilateral cryptorchid stallions were used. The relative abundance of the mRNA transcripts of PGP9.5 and VASA was significantly upregulated in the NST group than in the CST group. Additionally, the cross-sectional ST area and localization of PGP9.5 and VASA in germ cells were significantly higher in the NST group than in the CST group. Regarding Leydig cells, PGP9.5 staining was observed in both groups. Spermatogonia, primary spermatocytes and secondary spermatocytes were immunostained with VASA in the NST group, while immunostaining was only observed in spermatogonia in the CST group. These results indicate long-term exposure to heat stress conditions, such as cryptorchidism, directly impacts germ cell proliferation and differentiation, leading to impaired spermatogenesis and compromised fertility in stallions. [ABSTRACT FROM AUTHOR]

Persistent Müllerian duct syndrome is a rare autosomal recessive disorder of sex development characterized by the presence of Müllerian duct derived structures in a normally virilized, genotypical (46, XY) and phenotypical male. Here we describe a case of male partner of the couple who presented with primary subfertility and was diagnosed with persistent müllerian duct syndrome during investigations. Persistent Müllerian duct syndrome is a rare disease and in developing countries like Nepal, because of unaware of the disease condition and lack of proper health care facilities, such cases are diagnosed later in adult males. Therefore, this case highlights the importance of awareness and knowledge for early detection and treatment of such conditions to conserve fertility and prevent malignancy of testis and other remnant mullerian structures.

Key Clinical Message Cutaneous scaling and associated clinical syndrome displayed in X‐linked ichthyosis mandates multidisciplinary care. Patient with ichthyosis confronts a numerous challenge to an anesthesiologist and demands a rigorous management. As these patients are very vulnerable perioperatively, meticulous care and support are utmost. Abstract Ichthyosis is a group of genetic conditions distinguished by the appearance of hyperkeratotic scales on the skin's surface. X‐linked ichthyosis results from a mutation in the steroid sulfatase (STS) gene, which encodes the steroid sulfatase enzyme. Here we report a case of a 6‐year‐old child with X‐linked ichthyosis. He presented to our operation theater for correction of left‐sided undescended testis and underwent surgery uneventfully. To handle X‐linked ichthyosis perioperatively, meticulous planning and efficient anesthetic administration are critical.

Genetic mutations in the androgen receptor (AR) gene have been identified as the cause of androgen insensitivity syndrome. These mutations are linked to inconsistent development of the Wolffian duct and may result in conditions such as micropenis, hypospadias, and cryptorchidism. The androgen receptor has two polymorphic sites located in exon 1, which consists of varying amounts of CAG and GGN repeats. These repetitions lead to the formation of polyglutamine and polyglycine stretches of varied lengths. Increased CAG repeats lead to a decrease in androgen receptor transcriptional activity, but the impact of GGN triplets is less well understood. This research examined the CAG and GGN repeat lengths in males who had a past medical record of cryptorchidism. Prospective and retrospective observational studies from PubMed, Science Direct, and Embase were systematically searched up to 15th November 2020. Primary outcomes were analyzed using a fixed or random effect model regarding its heterogeneity and continued with multilevel modeling of each polymorphism and ethnicity. CAG and GGN repeat polymorphism was found to be significantly different compared to control in contributing to cryptorchidism (CAG: 0.55 [CI 95%=0.19-0.91]; p-value=0.003 and GGN 0.90 [CI95%=0.65-1.15]; p value

ABSTRACT Purpose: To analyze the histology and distribution of abdominal testicular vessels in human fetuses Patients and Methods: We studied 19 fetuses (34 testes) ranging in age from 12 to 19 weeks post-conception. The fetuses were evaluated regarding crown-rump length (CRL), total length (TL) and body weight immediately before dissection. Each testis was dissected and embedded in paraffin, from which 5 µm thick sections were obtained and stained with Masson's trichrome and Anti-CD31 antibody to quantify the vessels. The stereological analysis was carried out with the Image Pro and Image J programs, using a grid to determine volumetric densities (Vv). Means were statistically compared using the unpaired T-test (p

Background: Incidence and recognition of the congenital anomalies involving vas (or) ductus deferens, also called as sperm duct, are low, particularly when duplication of the sperm duct and epididymis occurs together. These anomalies, although of rare incidence, should be considered while performing surgeries related to the spermatic cord, to prevent inadvertent damage. Case presentation: We, here, present a case of a seventeen year old boy with undescended testis on left side, where laparoscopic evaluation revealed polyorchidism. The accessory testis was removed, and histo-pathological examination confirmed duplication of the sperm duct and the epididymis. Conclusion: This case scenario highlights the importance of recognizing and managing rare urogenital anomalies during procedures involving handling of spermatic cord structures.

Background: Noonan syndrome is a rare genetic disorder, characterized by dysmorphic facies, short stature, congenital heart diseases, and delay in development of variable degree. Aims: The aim of this study was to highlight the clinical spectrum, molecular profile, and outcome of Noonan syndrome patients from India. Settings and Design: A retrospective observational study was carried out between 2017 and 2020 in our tertiary care teaching institute. Materials and Methods: The retrospective data of consecutive patients were collected including clinical profile, investigations, and molecular analysis. Results: There were seven pediatric patients with Noonan syndrome. Characteristic facies, broad nose, low-set ears, short stature, and congenital cardiac anomalies (pulmonary stenosis) were present in all 7/7 (100%) patients. Short neck was present in 6 (85.71%), depressed nasal bridge in 5 (71.43%), development was grossly delayed in 5 (71.43%), and chest wall deformities in 4 (57.14%) patients. Cryptorchidism was present in 5 out of 6 (83.33%) male patients. Mutation in protein-tyrosine phosphatase nonreceptor type 11 gene was detected in all 4 out of 7 (57.14%) patients in whom genetic study was performed. Conclusions: A high index of suspicion for Noonan syndrome should be kept in mind in a patient presenting with facial dysmorphism, short stature, and congenital heart diseases with genitourinary abnormalities including cryptorchidism. A proper health education and counseling to the parents about the problem and alternative methods for having a healthy baby should be emphasized. Molecular confirmation is essential for prenatal diagnosis.

Anti-Müllerian hormone (AMH) is a Sertoli cell-secreted glycoprotein involved in male fetal sex differentiation: it provokes the regression of Müllerian ducts, which otherwise give rise to the Fallopian tubes, the uterus and the upper part of the vagina. In the first trimester of fetal life, AMH is expressed independently of gonadotropins, whereas from the second trimester onwards AMH testicular production is stimulated by FSH and oestrogens; at puberty, AMH expression is inhibited by androgens. AMH has also been suggested to participate in testicular descent during fetal life, but its role remains unclear. Serum AMH is a wellrecognized biomarker of testicular function from birth to the first stages of puberty. Especially in boys with nonpalpable gonads, serum AMH is the most useful marker of the existence of testicular tissue. In boys with cryptorchidism, serum AMH levels reflect the mass of functional Sertoli cells: they are lower in patients with bilateral than in those with unilateral cryptorchidism. Interestingly, serum AMH increases after testis relocation to the scrotum, suggesting that the ectopic position result in testicular dysfunction, which may be at least partially reversible. In boys with cryptorchidism associated with micropenis, low AMH and FSH are indicative of central hypogonadism, and serum AMH is a good marker of effective FSH treatment. In patients with cryptorchidism in the context of disorders of sex development, low serum AMH is suggestive of gonadal dysgenesis, whereas normal or high AMH is found in patients with isolated androgen synthesis defects or with androgen insensitivity. In syndromic disorders, assessment of serum AMH has shown that Sertoli cell function is preserved in boys with Klinefelter syndrome until mid-puberty, while it is affected in patients with Noonan, Prader-Willi or Down syndromes. [ABSTRACT FROM AUTHOR]

Heat shock proteins are the most evolutionarily conserved protein families induced by stressors including hyperthermia. In the context of pathologies of the male reproductive tract, cryptorchidism is the most common genital defect that compromises the reproductive potential of the male because it induces an increase in intratesticular temperature. In equine species, cryptorchidism affects almost 9 % of newborns and few studies have been carried out on the molecular aspects of the retained testis. In this study, the expression pattern of HSP60, 70, and 90 in abdominal and inguinal testes, in their contralateral descended normally testes, and in testes of normal horses were investigated by Western blot and immunohistochemistry. The histomorphological investigation of retained and scrotal testes was also investigated. The seminiferous epithelium of the retained testes showed a vacuolized appearance and displayed a completely blocked spermatogenesis for lacking meiotic and spermiogenetic cells. On the contrary, the contralateral scrotal testes did not show morphological damage and the seminiferous epithelium displayed all phases of the spermatogenetic cycle as in the normal testes. The morphology of Leydig cells was not affected by the cryptorchid state. Western blot and immunohistochemistry evidenced that equine testis (both scrotal and retained) expresses the three investigated HSPs. More in detail, the Western blot evidenced that HSP70 is the more expressed chaperone and that together with HSP90 it is highly expressed in the retained gonad (P < 0.05). The immunohistochemistry revealed the presence of the three HSPs in the spermatogonia of normal and cryptorchid testes. Spermatogonia of retained testes showed the lowest expression of HSP60 and the highest expression of HSP90. Spermatocytes, spermatids of scrotal testes, and the Sertoli cells of retained and scrotal testes did not display HSP60 whereas expressed HSP70 and HSP90. These two proteins were also localized in the nucleus of the premeiotic cells. The Leydig cells displayed the three HSPs with the higher immunostaining of HSP70 and 90 in the cryptorchid testes. The results indicate that the heat stress condition occurring in the cryptorchid testis influences the expression of HSPs. • HSP60, 70 and 90 are expressed in equine testis. • Germ and somatic cells show a specific HSP pattern in retained testis. • Cryptorchidisms influences HSPs expression and localization in the testis. [ABSTRACT FROM AUTHOR]