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Purpose: The purpose of this study was to describe an approach to cervical brachytherapy for a patient with a complete bicorporeal uterus and locally advanced cervical cancer (LACC). Materials and methods: The patient was a 53-year-old woman with a complete bicorporeal uterus, diagnosed with stage IIB cervical squamous cell carcinoma due to contact bleeding. The patient underwent concurrent chemoradiotherapy (CCRT), external beam pelvic radiotherapy with 45 Gy/25 fractions, and weekly cisplatin (40 mg/m2). Brachytherapy was administered following the completion of external beam radiotherapy. Results: The brachytherapy, which was CT (Computed Tomography)-guided using two CT-compatible tandems and two CT-compatible ovoids, delivered a prescription dose of HRCTV D90 was 6 Gy*5F, which achieved satisfactory dose coverage. The patient's final HRCTV D90 EQD210 was 84.9 Gy, and IRCTV D90 EQD210 was 63.5 Gy. Rectum D2cc EQD23 was 66.03 Gy, bladder D2cc EQD23 was 75.57 Gy, sigmoid D2cc EQD23 was 63.93 Gy, and intestine D2cc EQD23 was 65.86 Gy. Follow-up at 1 year was CR. Conclusions: For patients with cervical cancer and a complete bicorporeal uterus, using double tandems combined with double ovoids is a feasible treatment method to ensure adequate dose coverage without causing additional damage. This method is also applicable to patients with endometrial cancer. [ABSTRACT FROM AUTHOR]

Background: Bladder exstrophy-epispadias complex (BEEC) is the most severe congenital anomaly involving the urinary tract. Currently, there is a growing interest in the long-term outcomes and their impact on quality of life (QoL). Methods: Our aim was to determine the incidence of urinary incontinence and whether it affects sexual function. The study population included BEEC patients >18 years treated at a specialized third-level hospital. We contacted them via telephone and emailed a voluntary online questionnaire which was anonymously self-completed. The online test included validated questionnaires to assess the following parameters: incontinence (ICIQ-SF), LUTS (ICIQ-FLUTS/IPSS) and sexual function (FSH/FSM2). Answers of the questionnaires were collected into a database for further evaluation. Statistical significance was defined by p

POLE is a pleiotropic gene with phenotypic expression of pathogenic variants depending on the type of variant, impact on the protein, and mode of inheritance. Heterozygous missense variants located within the exonuclease domain have been shown to result in polymerase proofreading‐associated polyposis (PPAP) which is characterized by an increased risk for colon polyps and colorectal cancer. Biallelic variants resulting in markedly reduced amounts of normal protein have been reported in two separate recessive pediatric syndromes: facial dysmorphism, immunodeficiency, livedo, and short stature as well as intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenital, and genital anomalies. Here we report two siblings identified to have POLE c.1686 + 32C > G in trans with POLE p.(Glu709*) via exome sequencing. A detailed review of the reported phenotypes in these two siblings and from available literature revealed that individuals with biallelic POLE pathogenic variants resulting in partial loss‐of‐function present with a similar phenotype: short stature and facial dysmorphism with or without immunodeficiency. These data suggest a phenotypic continuum between the previously reported POLE‐related recessive disorders. [ABSTRACT FROM AUTHOR]

Background: Bardet–Biedl syndrome (BBS) is a multisystemic disorder characterized by rod–cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. There is a large clinical and also genetic heterogeneity in BBS. Here, we report a patient with polydactyly, hyperechogenic kidneys increased in size with normal corticomedullary differentiation, anal imperforation, and malformation of genitals with presence of a genital tubercle with ventral urethral meatus associated with two unfused lateral genital swelling and absent urethral folds, in the context of 46, XY karyotype. Methods: Karyotype and solo exome sequencing were performed to look for a genetic etiology for the features described in our patient. Results: We identified a homozygous in‐frame deletion of exons 4 to 6 in the BBS4 gene (NM‐033028 (BBS4‐i001): c.[(157‐?)_(405 +?)del] p.(Ala53‐Trp135del), which is classified as pathogenic variant. This analysis allowed the molecular diagnosis of BBS type 4 in this patient. Conclusion: Complex genital malformations are only reported in female BBS6 patients yet, and genital abnormalities and anal imperforation are not reported in male BBS4 patients to date. We discuss the possible hypotheses for this phenotype, including the phenotypic overlap between ciliopathies. [ABSTRACT FROM AUTHOR]

Labial fusion, though rare, can present during puberty, or even adolescence leading to challenges in diagnosis and management. This case report offers a detailed examination of the clinical manifestation, diagnostic process, and therapeutic approach in an adolescent girl with labial fusion. This report emphasizes the importance of early intervention to improve patient outcomes for this complex medical condition., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Gupta et al.)

Introduction: Cryptorchidism is a disorder of the testicles, when during a physical exam, testicles, one or both of them, are not found in the scrotum, but are found either along the inguinal canal or in the abdomen. Two main modalities of treatment are hormonal and surgical treatment. Aim: The aim of this paper was to determine the success rate of hormonal therapy with human chorionic gonadotropin (hCG) in undescended testicle treatment in patients treated at the Institute for Child and Youth Health Care in Vojvodina, from January 1, 2010, to December 31, 2017. Material and methods: This research included the patients from the Institute for Child and Youth Health Care in Vojvodina ages 0-18, treated from January 1, 2010, to December 31, 2017. Medical documentation has been analyzed and interpreted using methods of descriptive statistic. The research included boys with undescended testicles, to whom the hormonal therapy was indicated. Patients were divided into 3 groups (6 years). The therapy was applied twice a week, in the course of 5 weeks (hCG 250-1000 IJ/dose). The position 12 months after therapy was used as a final position. Results: The hormonal descend was achieved in 63 patients (62.4%) of the total number of patients. Тhe highest success rate was achieved in oldest of our patients (80%). Conclusion: Hormonal therapy with hCG leads to descent in a high percentage, with very little transitory adverse effects, and it is an important modality in undescended testicles treatment.

There appear to be various patterns of sidedness with relation to the common urogenital malformations observed in pediatric urology. The objective of this statistical review was to synthesize this data and to assess if these patterns are significant. Eighteen urogenital conditions were investigated and for each condition the five largest studies that noted laterality were included. The sidedness of each condition was then analysed for statistical significance. Three conditions had a statistically significant higher proportion on the right side: palpable undescended testis (63%, p = 0.0002), inguinal hernia (59%, p = 0.0001) and hydrocele (60%, p = 0.003). Three conditions were significantly more common on the left side: impalpable undescended testis (59%, p = 0.0008), renal agenesis (54%, p = 0.02) and vesico-ureteric junction obstruction (71%, p < 0.0001) while both pelvi–ureteric junction obstruction (62%, p = 0.09) and absent vas deferens (61%, p = 0.11) were trending towards significance. Various urogenital malformations display a predilection for one side. Proximal malformations tend to be more frequently seen on the left side, where as inguinoscrotal malformations are more frequently observed on the right. There is an increasing body of literature regarding aetiological factors for these conditions. However, our current understanding of the pathophysiology of these conditions does not completely explain this pattern of observation. [ABSTRACT FROM AUTHOR]

Summary Classical bladder exstrophy (CBE), affecting 1 birth out of 30,000, is characterized by an evaginated bladder plate through a defect in the lower abdominal wall, multiple abdominal wall anomalies including a pubic bone arch dehiscence. Numerous approaches from childhood to adulthood are thus required, depending on the severity of the deformity, including the associated genital anomalies. We report the case of a 19-year-old woman with CBE with a history of three-failed primary closure. We performed a secondary neck closure with a concomitant suspension of the bladder neck and reconstruction of the lower abdominal wall using a bilateral gracilis muscle flap transposition. The early postoperative course was uneventful. The patient was discharged at day ten postoperatively. The upper part of the genital sutures (labia minora) secondary healed in three weeks. Assessment at 2, 6 and 16 months postoperatively, respectively noticed a complete healing with successful sexual intercourses, perceived gracilis contraction by the patient, and finally, recent attempts to get pregnant. Neither urinary infection nor urinary leaks occurred. Bilateral crossed gracilis muscles transfer linking both rectus abdominis muscle in front of the reconstructed bladder neck might benefit to bladder exstrophy patients. [ABSTRACT FROM AUTHOR]

Adolescence is a distinctive stage in human development during which many simple and complex medical conditions can present for the first time. Paediatric and adolescent gynaecological conditions need careful multidisciplinary clinical management with a sensitive approach understanding the patients’ psychological and physiological circumstances. The objective of this study is to review the tertiary paediatric and adolescent gynaecology service in Leeds, United Kingdom and to present an overview of the various conditions that present to such a clinic. A total of 985 patients were seen over a 16-year period and the increasing number of patients seen over this time establishes the need for such a service to exist. Complex developmental anomalies of the genital tract and disorders of sexual differentiation formed a major portion of the referrals. Presence of a significant number of referrals for simple gynaecological conditions including menstrual irregularities, gynaecological pain, vulvovaginitis, polycystic ovary syndrome and concerns about labial appearance indicates the reluctance of general gynaecologists and general practitioners to manage such conditions in young patients. This emphasizes the need for continued education of primary health care professionals and establishment of clear guidelines and care pathways for the management of this special patient group. [ABSTRACT FROM PUBLISHER]

Introduction The purpose of this study was to present the prenatal sonographic findings of external genital anomalies and determine diagnostic clues. Methodology In a single-center retrospective study, a total of 15,320 pregnant women underwent a routine ultrasound (US) screening between 18 and 40 weeks of gestation from March 2015 to January 2022. The fetuses with indeterminate sex and suspected genital anomalies were enrolled in the study. B-mod and three-dimensional (3D) imaging of the external genital organs were performed according to a local protocol in cases of genital anomalies. Prenatal and postnatal data were retrieved from the electronic health records. Results A total of 88 fetuses were included in the study. The prevalence of external genital anomalies was found to be 0.6%, and the degree of correspondence (DC) between prenatal and postnatal diagnoses of external genital anomalies was 94.3%. The most common genital anomaly was hypospadias with a frequency of 59%. Severe hypospadias was detected in five of six cases with chordee where the penoscrotal angle was below 30°. Approximately 70% of clitoromegaly cases with labial hypertrophy had a horseshoe sign  on 3D images. Conclusions The DC between prenatal and postnatal diagnoses of external genital anomalies is high in this study. The novel diagnostic clues, such as horseshoe sign  and penoscrotal angle  may be useful in diagnosing and determining the severity of the external genital anomalies., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Annac et al.)

Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs. Professional counselling explained him the nature of his condition and treatment options to correct dental anomalies and congenital malformations were advised.

Introduction: The pure interstitial trisomy 11q11q23.2 is an uncommon genomic disorder associated with nonrecurrent intrachromosomal duplications. The phenotype is characterized by intellectual disability and craniofacial abnormalities. Given their uncommonness, a comprehensive genotype-phenotype correlation has not fully been defined., Case Presentation: We report the clinical and cytogenomic characterization of a 5-year-old boy with intellectual disability, psychomotor retardation, craniofacial dysmorphism, genital anomalies, and pure interstitial trisomy 11q arising from a nonrecurrent 11q13.1q22.3 intrachromosomal duplication in a high-mosaic state (>80%). The duplicated chromosome was characterized by cytogenetics, multicolor banding FISH, and SNP array. We demonstrated the wide mosaic distribution of the 11q duplication by interphase FISH in tissues from different embryonic germ layers. The duplication involves a copy number gain of 45.3 Mb containing 22 dosage-sensitive genes. We confirmed the overexpression of dosage-sensitive genes along the duplicated region using RT-qPCR., Discussion: Only 8 patients have been described. Our patient shares clinical features with previous reports but differs from them by the presence of genital anomalies. We provide a detailed clinical review and an accurate genotype-phenotype correlation and propose PC , NDUFV1 , FGF3 , FGF4 , and DHCR7 as dosage-sensitive genes with a possible role in the clinical spectrum of our patient; however, expression changes of FGF3/4 were not detected since they must be regulated in a spatiotemporal way. This patient contributes to the accurate description of the pure interstitial trisomy 11q. Future reports could continue to delineate the description, considering the relationship between the chromosome segment and the genes involved., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2023 by S. Karger AG, Basel.)

Distal 10q deletion syndrome is a well-characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac malformations, genital and urinary tract defects, as well as digital anomalies. Patients with interstitial deletions involving band 10q26.1 present a phenotype similar to the ones with the distal 10q deletion syndrome, which led to the definition of a causal 600 kb smallest region of overlap (SRO). In this report, we describe a male patient with an interstitial 4.5 Mb deletion involving exclusively the 10q26.1 segment. He had growth and psychomotor retardation, microcephaly, flat feet, micropenis, and cryptorchidism. The patient's deleted region does not overlap the 10q SRO. We reviewed the clinical phenotype of patients with similar deletions and suggest the presence of two new SROs, one associated with microcephaly, growth and psychomotor retardation, and the other associated to genital anomalies. Interestingly, we narrowed those regions to segments encompassing five and two genes, respectively. FGFR2, NSMCE4A, and ATE1 were suggested as candidates for facial dysmorphism, growth cessation, and heart defects, respectively. WDR11 was linked to idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Its haploinsufficiency could play a crucial role in the genital anomalies of these patients. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

This is an attempt to establish the normal stretched penile length and prevalence of male genital anomalies in full-term neonates and whether they are influenced by prenatal parental exposure to endocrine-disrupting chemicals. A thousand newborns were included; their mothers were subjected to the following questionnaire: parents' age, residence, occupation, contact with insecticides and pesticides, antenatal exposure to cigarette smoke or drugs, family history of genital anomalies, phytoestrogens intake and history of in vitro fertilization or infertility. Free testosterone was measured in 150 neonates in the first day of life. Mean penile length was 3.4±0.37 cm. A penile length <2.5 cm was considered micropenis. Prevalence of genital anomalies was 1.8% (hypospadias 83.33%). There was a higher rate of anomalies in those exposed to endocrine disruptors (EDs; 7.4%) than in the non-exposed (1.2%; p<0.0001; odds ratio 6, 95% confidence interval 2-16). Mean penile length showed a linear relationship with free testosterone and was lower in neonates exposed to EDs. [ABSTRACT FROM AUTHOR]

Summary: Objective: Male genital image has a significant impact on sexual functioning and quality of life. This concept will be defined, and attempts to operationalize and measure it will be critiqued. Selected medical conditions and surgical treatments that impact male genital image will be highlighted, and discussed. Method: A PubMed review of genital image measurement was performed, along with a review of selected medical conditions and surgeries that affect the appearance and functioning of the male genitals including micro-penis, hypospadias, Peyronie''s disease, and genital cancers. Results: Male genital image does appear to be a measurable attribute, and is correlated with a number of sexual health outcomes. Present measurement methods, however, may only apply to healthy populations. Furthermore, medical conditions affecting the appearance and functioning of the genitals appear to have significant impact on genital image as well as on quality of life. Discussion: Male genital image should be taken into account when considering medical interventions affecting the genitalia. Better measures of genital image need to be developed and validated; this will allow for better understanding of the psychosexual outcomes of genital image, as well as for examining how genital image can be improved. [Copyright &y& Elsevier]

Background: External genital anomalies are among the most common congenital anomalies. Proper early diagnosis and management of genital abnormalities are of great importance to minimize medical, psychological and social complications. Aim: To detect the incidence of external genital anomalies and disorders of sex development (DSD) in Great Cairo and Qalyubiyah governorates. Subjects and Methods: 20,000 newborns and infants up to the age of 6 months coming for compulsory vaccination at primary health care units and centers in Great Cairo and Qalyubiyah governorates were examined in the years 2006-2007 for suspected genital anomalies. Results: There were 187 (93.5/10,000) cases with external genital anomalies among the screened 20,000 participants. Various abnormalities in the form of 46,XY DSD, undescended testis, hydrocele, hypospadias, micropenis, synechia of the labia and other genital anomalies were diagnosed and classified after thorough clinical examination, and hormonal, radiological, and laparoscopic investigations. Conclusion: This first pilot study in Great Cairo and Qalyubiyah governorates showed a relatively high incidence of genital anomalies and DSD. Therefore, we recommend more studies including larger population sizes to detect the actual incidence of genital anomalies and DSD in Egypt in order to serve those patients and their families. [ABSTRACT FROM AUTHOR]

Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs. Professional counselling explained him the nature of his condition and treatment options to correct dental anomalies and congenital malformations were advised. [ABSTRACT FROM AUTHOR]

Genitopatellar syndrome is an extremely rare, autosomal dominant disorder characterized by the association of absent patellae, genital anomalies, dysmorphic features (coarse face, large nose, microcephaly), renal anomalies (multicystic kidneys or hydronephrosis), cardiac defects, and intellectual deficit. Constant skeletal manifestations include flexion deformities of the knees and hips with club feet. It is caused by mutations in KAT6B which encodes for histone acetyltransferase 6B enzyme involved in gene regulation. [ABSTRACT FROM AUTHOR]

Haemangiomas are common, benign, vascular tumours, observed in 4–12% of infants during the first year of life. Most cases progress without complication, yet a small proportion experience life-threatening complications. Concomitant congenital malformations have been reported in a small but significant proportion of haemangioma patients. This study aimed to describe haemangioma cases and to identify patterns of congenital malformations associated with these diagnoses in a large population. Diagnoses of haemangiomas and 21 congenital malformations were extracted from electronic medical records of 467 295 singleton infants born to US military families from 1998 to 2003. Cluster analysis was used to group cases according to these diagnoses. Multivariable logistic regression was used to further explore the associations of the 21 congenital malformations with the diagnosis of haemangioma and to assess the adjusted relationships between a number of characteristics of interest and diagnosis of haemangioma. Clusters found to be associated with haemangioma were characterised by anomalies of the cervix, vagina, and external female genitalia, anophthalmia or microphthalmia, hydrocephalus without spina bifida, and reduction deformities of the brain. Logistic regression identified three congenital malformations significantly associated with haemangioma diagnosis: spina bifida without anencephalus, hydrocephalus without spina bifida, and anomalies of the cervix, vagina and external female genitalia. Characteristics significantly associated with haemangioma included female gender, preterm birth, white non-Hispanic race/ethnicity and increasing maternal age. This exploratory study identified a number of important associations between haemangiomas and congenital malformations that may provide insight into the pathogenesis of these disorders and have possible implications for clinical care. [ABSTRACT FROM AUTHOR]

We tested the hypothesis that maternal exposure to synthetic estrogen can cause hypospadias in male offspring and defined the morphological changes in the disrupted urethral seam. Timed pregnant C57/6 mice were exposed to synthetic estrogens. The genital tubercles were examined for the presence of hypospadias using histology, three-dimensional computer reconstruction, and plastic cast injection molds of the urethra. Microscopic serial analysis confirmed the presence of hypospadias, which occurred in ∼50% of the synthetic-estrogen-treated male fetuses. No effect was seen in the female embryos. Plastic cast injection showed that affected males had a shorter total urethral length and loss of male anatomic features such as the prostatic utricle. Exposure to synthetic estrogens during pregnancy affects the normal development of the urethra in the mouse. We conclude that endocrine disrupters play an important role in genital tubercle anomalies. [Copyright &y& Elsevier]

We found significant elevated incidence of hypospadias in two towns in Southeastern Sicily selected on the basis of the presence of intense industrial (Augusta) and agricultural (Vittoria) activities. Cases and controls were chosen in records collected from a surveillance system on abnormal live births in the same area and in a large city (Catania) located in an area at low risk of exposure to environmental pollutants. From 1991 to 1998, 16 cases of isolated hypospadias were recorded among male live births in Augusta (12.1 per 1000 male live births) and 24 cases in Vittoria (7.4 per 1000 male live births) with an incidence significantly higher than that expected (3.2 per 1000 in Southeastern Sicily). Relative risks in Augusta and Vittoria were 3.8 (95% confidence interval: 2.16–6.14) and 2.3 (95% confidence interval: 1.48–3.43; P=0.00003 and 0.04, respectively). In Augusta, the incidence of hypospadias was higher than in Vittoria. Significant log odds ratios were found for occupational exposure in fathers both in Augusta and Vittoria (P=0.0478 and 0.026, respectively). However, daily contact with pollutants in Augusta may not be sufficient by itself to determine hypospadias and other factors might be involved. Similar factors may act also in Vittoria. Thus, contact with large amounts of pesticides is, by itself, a risk factor for hypospadias, though genetic and other environmental factors might be involved. [Copyright &y& Elsevier]

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Background. Although the frequent association between distal 10q monosomy and urogenital anomalies suggests the presence of a gene(s) for urogenital development on distal 10q, molecular deletion mapping has not been performed for the putative gene(s). In this study, we examined genotype-phenotype correlations in patients with distal 10q monosomy. Methods. This study consisted of six karyotypic males (cases 1 through 6) and four karyotypic females (cases 7 through 10) with 10q26 monosomy. Cases 3 through 5 and 7 through 10 had urinary anomalies such as vesicoureteral reflux and hypoplastic kidney, and cases 1 through 6, 8, and 9 exhibited genital anomalies such as micropenis, hypospadias, cryptorchidism, and hypoplastic labia majora. Fluorescence in situ hybridization (FISH) for 10q telomere, whole chromosome 10 painting, and microsatellite analysis for 35 loci on distal 10q were performed in cases 1 through 8. Results. FISH and whole chromosome painting confirmed distal 10q monosomy in cases 1 through 8. Microsatellite analysis revealed that hemizygosity for the region distal to D10S186 was shared by cases with urinary anomalies and that for the region distal to D10S1248 was common to cases with genital anomalies. Furthermore, it was indicated that PAX2, GFRA1, and EMX2 on distal 10q, in which the deletions could affect urinary and/or genital development, were present in two copies in cases 1 through 8. Conclusions. The results suggest that a novel gene(s) for urinary development and that for genital development reside in the approximately 20 cM region distal to D10S186 and in the approximately 10 cM region distal to D10S1248, respectively, although it remains to be determined whether the two types of genes are identical or different. [ABSTRACT FROM AUTHOR]

The birth of an infant with a significant genital anomaly creates a complex situation for professional staff, in which important issues of communication, diagnosis, and treatment must be considered simultaneously. There have been many major scientific advances in the field and the basis for many of the disorders responsible for genital anomalies are understood, but progress in the development of terminology suitable for use with distressed parents has not been as rapid. [ABSTRACT FROM AUTHOR]

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Androgen insensitivity syndrome (AIS) (OMIM 300068) is an X-linked recessive genetic disorder with an XY karyotype that is caused by androgen receptor (AR) defects. We report a prenatal diagnosis case with clinical and molecular findings. The fetal phenotype was female, moreover the autopsy revealed the presence of abdominal testes confirmed by histopathological examination. The AR gene molecular analysis performed on the fetal DNA showed the presence of a c.2493C>T change in exon 4. The single nucleotide change resulted in a Q711X amino acid substitution within the AR ligand-binding domain of the protein that has never been described before in the literature. AIS is an important consideration in pregnancies that show sex discordance in ultrasonography and karyotype results with the opportunity to perform molecular analysis of the AR gene in order to confirm the diagnosis. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Three new cases of the congenital syndrome consisting of X-linked lissencephaly, absent corpus callosum, and genital anomalies (XLAG) are reported from the University Hospital, Angers, France.