Search

The anti-Müllerian hormone (AMH) is a glycoprotein secreted by Sertoli cells in males and granulosa cells in females. It has first been determined in blood serum of dogs and cats by Place et al. in 2011 with the use of a human-based ELISA test. Meanwhile, different immunoassays have been validated for AMH determination in animals and a variety of studies have demonstrated the clinical significance of AMH. This review summarizes the current knowledge about AMH in dogs and cats and describes future opportunities for its diagnostic use., (© 2020 Blackwell Verlag GmbH.)

Evaluation of the child with abnormal pubertal development can be challenging for the primary care provider. Understanding the factors associated with timing of pubertal onset and the normal sequence of pubertal changes is useful in evaluation of children with puberty disorders. A thorough workup includes assessment of growth rate, Tanner staging, and rate of pubertal progression, in addition to an extensive history and physical examination to identify signs and symptoms of disorders associated with abnormal pubertal timing. Initial diagnostic studies will most often include a bone age, levels of gonadotropins, and levels of estradiol (for girls) or testosterone (for boys)., Competing Interests: Disclosure The authors have nothing to disclose., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background: The hypothalamic-pituitary-gonadal axis is transiently activated during the postnatal months in boys, a phenomenon termed "minipuberty" of infancy, when serum testosterone (T) increases to pubertal levels. Despite high circulating T there are no signs of virilization. We hypothesize that free T as measured in saliva is low, which would explain the absence of virilization., Methods: We measured serum total T and free T in saliva using liquid chromatography-tandem mass spectrometry (LC-MS/MS) in 30 infant boys, aged 1-6 months, and in 12 adolescents, aged 11-17 years., Results: Total serum T in all infants was, as expected, high (172 ± 78 ng/dL) while salivary T was low (7.7 ± 4 pg/mL or 0.45 ± 0.20%). In contrast, salivary T in the adolescents was much higher (41 ± 18 pg/mL or 1.3 ± 0.36%) in relation to their total serum T (323 ± 117 ng/dL). We provide for the first time reference data for salivary T in infants., Conclusion: Measurement of salivary T by LC-MS/MS is a promising noninvasive technique to reflect free T in infants. The low free T explains the absence of virilization. The minipuberty of infancy is more likely of intragonadal than peripheral significance.
., (© 2017 S. Karger AG, Basel.)

Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disorder and may affect the reproductive health status of the women. Objective is to analyze the types, incidence of various menstrual disturbances in these women, to identify risk factors and to assess the gonadal function., Methods: The prospective cohort study was conducted in the SLE clinic of the Rheumatology Department of IPGMEandR, Kolkata from April 2010 to April 2011. Out of 152 females attending clinic, 110 patients fulfilling criteria were included in the study., Results: Mean age of the study population was 27.25±3.4 years. Sixty six cases had menstrual abnormalities (12.72% amenorrhea, 44.45% oligomenorrhea, 2.7% premature ovarian failure, 10.9% menorrhogia). When comparative analysis of demographic, hormonal, ovarian Doppler and therapeutic variables of normal and abnormal cycles was carried out, following parameters were significantly more related to patients with abnormal cycle ; SLEDAI score (12.48±5.53 vs 8.69±4.9; p=0.00), disease duration (6.46±3.08 vs 4.3±1.36; p< 0.05), TSH (7.73±8.64 vs 3.07±2.06; p=0.00.), LH (6.55±4.38 vs 4.56±3.29; p=0.02), a high normal prolactin (12.57±7.75 vs 8.73±3.07; p=0.02), peak systolic velocity (6.53±2.17 vs 9.12±2.1; p=0.00), end-diastolic volume (4.21±2.9 vs 9.35±2.32; p=0.00) and cumulative dose of steroid (24.02±41.44 vs 9.32±9.96; p=0.01).Cyclophosphamide with cumulative dose ≥10 gm was related to amenorrhea and affected gonadal function. Gonadal insufficiency was evident in 33.63% and 2.72% had ovarian failure., Conclusions: Reduced menstruation is a major health concern in women with SLE as it is frequent and can result in depressed and failed gonadal function later. Doppler study of ovaries is a novel way of depiction of gonadal status in these women. Certain risk factors and revolving treatment part can be preventable., (© Journal of the Association of Physicians of India 2011.)

Background: Primary gonadal failure is characterised by primary amenorrhoea or early menopause in females, and oligospermia or azoospermia in males. Variants of the minichromosome maintenance complex component 8 gene (MCM8) have recently been shown to be significantly associated with women's menopausal age in genome-wide association studies. Furthermore, MCM8-knockout mice are sterile. The objective of this study was to elucidate the genetic aetiology of gonadal failure in two consanguineous families presenting as primary amenorrhoea in the females and as small testes and azoospermia in a male., Methods and Results: Using whole exome sequencing, we identified two novel homozygous mutations in the MCM8 gene: a splice (c.1954-1G>A) and a frameshift (c.1469-1470insTA). In each consanguineous family the mutation segregated with the disease and both mutations were absent in 100 ethnically matched controls. The splice mutation led to lack of the wild-type transcript and three different aberrant transcripts predicted to result in either truncated or significantly shorter proteins. Quantitative analysis of the aberrantly spliced transcripts showed a significant decrease in total MCM8 message in affected homozygotes for the mutation, and an intermediate decrease in heterozygous family members. Chromosomal breakage following exposure to mitomcyin C was significantly increased in cells from homozygous individuals for c.1954-1G>A, as well as c.1469-1470insTA., Conclusions: MCM8, a component of the pre-replication complex, is crucial for gonadal development and maintenance in humans-both males and females. These findings provide new insights into the genetic disorders of infertility and premature menopause in women., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Study Question: What is the optimal protocol of management for phenotypic female patients with Y chromosome or Y-derived sequences, in particular for adult patients?, Summary Answer: Immediate gonadectomy, long-term hormone therapy and psychological care are suggested to be the optimal management for older phenotypic female patients with Y chromosome or Y-derived sequences., What Is Known Already: Phenotypic female patients with Y chromosome or Y-derived sequences are at increasing risk of developing gonadal tumors with age. Early diagnosis and safe guidelines of management for these patients are needed., Study Design, Size, Duration: One hundred and two phenotypic women with Y chromosome or Y-derived sequences were included in a straightforward, retrospective-observational study conducted over a period of 26 years from January 1985 to November 2010., Participants/materials, Setting and Methods: Patients aged 16-34 years presenting to our Academic Department of Gynecology with symptoms of disorders of sex development were subjected to history taking, hormonal evaluation, conventional cytogenetic analysis, PCR, histopathology and immunohistochemistry. Features of the gonads were examined and the outcome of prophylactic gonadectomy evaluated., Main Results and the Role of Chance: Among the patients recruited in our study, 48 patients (47.1%) were diagnosed with complete/partial androgen insensitivity syndrome (CAIS/PAIS) (46XY), 33 cases (32.4%) with gonadal dysgenesis (46XY) and the remaining subjects (20.1%) with mixed gonadal dysgenesis (with sex chromosome structural abnormalities). The total incidence of malignancy was 17.6%. Seventeen patients (16.7%) had gonadoblastoma, while one patient (1.0%) with gonadal dysgenesis had dysgerminoma. Gonadoblastoma were observed in 2/21 patients with sex chromosome structural abnormalities (9.5%), 3/33 patients with gonadal dysgenesis (9.1%), 9/30 patients with CAIS (30.0%) and 3/18 patients with PAIS (16.7%)., Limitations, Reasons for Caution: Selection bias in this cohort study may affect data interpretation due to the low incidence of disorders of sex development in the general population., Wider Implications of the Findings: The risk for malignant transformation may occur in early life and highly increase with age in patients with Y chromosome or Y-derived sequences. Optimal timing of gonadectomy should be decided by multiple factors including the subgroup of disorder, age and degree of patient's maturity. In addition, gonadal biopsy is suggested when the disease is diagnosed and any evidence of premalignancy warranties gonadectomy., Study Funding/competing Interest(s): This work was supported by the National Key Scientific Research Project (2013CB967404), Natural Science Funds of Zhejiang Province (Y13H04005), Zhejiang Qianjiang talent plan (2013R10027), the Fundamental Research Funds for the Central Universities and Key Projects in the National Science & Technology Pillar Program during the Eleventh Five-Year Plan Period (2012BAI32B04). The authors have no conflicts of interest to declare. TRIAL REGISTRATION NUMBER None.

Purpose: Cancer patients are a high-risk population for venous thromboembolism (VTE); the natural history of gonadal vein thrombosis (GVT) occurring in cancer patients is not well described in the medical literature., Methods: Utilizing a software program the computerized tomographic scan reports of patients at a single cancer center from January 1, 2004 to June 30, 2011 were searched for the term GVT. Patients included in this analysis had a diagnosis of cancer, an isolated GVT (i.e. no evidence of thrombosis at another site), no symptoms referable to the GVT, and at least six months of follow-up information. All subsequent recurrent VTE events were confirmed by imaging studies., Results: 196 cancer patients with GVT were identified. The majority of patients in this analysis had metastatic disease (118, 61.2%) as well as active cancer (167, 85.2%). Twenty patients (10.8%) developed recurrent VTE (median follow-up 14.5 months); median time to recurrent VTEs was 5.5 months (range 0-19 months). When considering only patients with without a recent history of gynecologic surgery, VTE recurrence rates were 14.3%. Active cancer was the only risk factor significantly associated with recurrent VTE (P=0.047)., Conclusions: Based upon the patient's risk factors for VTE, treatment of an incidentally detected GVT in cancer patients with anticoagulation, as per guidelines for other VTE sites, may be indicated in certain high risk subgroups, especially those patients with active cancer who have not had prior pelvic surgery., (© 2013.)

In the attempt to harmonize clinical practices between different French transplantation centers, the French Society of Bone Marrow Transplantation and Cell Therapy (SFGM-TC) set up the third annual series of workshops which brought together practitioners from all member centers and took place in October 2012 in Lille. Here we report our results and recommendations regarding the management of short and long-term endocrine dysfunction following allogeneic stem cell transplantation. The key aim of this workshop was to give an overview gonadal failure, fertility preservation and post-transplant., (Copyright © 2013. Published by Elsevier SAS.)

Adolescent gynecology is an important part of clinical care of adolescent females. This discussion provides a basic review of current issues in adolescent gynecology, including consideration of current pubertal concepts with attention also given to delayed and precocious puberty. Causes of breast masses are reviewed, including discussion of the ANDI classification. It is recommended that physicians provide sexuality education to their adolescent patients, in addition to the community, to reduce the high rates of unintended adolescent pregnancy and STIs in teens that continue in the United States. Finally, attention is provided to ovarian masses and their management. Adolescent medicine physicians may have to work with a variety of specialists in their care of adolescents and the many gynecologic conditions that may arise.

Purpose: As more young female patients with cancer survive their primary disease, concerns about reproductive health related to primary therapy gain relevance. Cancer therapy can often affect reproductive organs, leading to impaired pubertal development, hormonal regulation, fertility, and sexual function, affecting quality of life., Methods: The Children's Oncology Group Long-Term Follow-Up Guidelines for Survivors of Childhood, Adolescent, and Young Adult Cancer (COG-LTFU Guidelines) are evidence-based recommendations for screening and management of late effects of therapeutic exposures. The guidelines are updated every 2 years by a multidisciplinary panel based on current literature review and expert consensus., Results: This review summarizes the current task force recommendations for the assessment and management of female reproductive complications after treatment for childhood, adolescent, and young adult cancers. Experimental pretreatment as well as post-treatment fertility preservation strategies, including barriers and ethical considerations, which are not included in the COG-LTFU Guidelines, are also discussed., Conclusion: Ongoing research will continue to inform COG-LTFU Guideline recommendations for follow-up care of female survivors of childhood cancer to improve their health and quality of life.

The pituitary gonadotropin follicle-stimulating hormone (FSH) interacts with its membrane-bound receptor to produce biologic effects. Traditional functions of FSH include follicular development and estradiol production in females, and the regulation of Sertoli cell action and spermatogenesis in males. Knockout mice for both the ligand (Fshb) and the receptor (Fshr) serve as models for FSH deficiency, while Fshb and Fshr transgenic mice manifest FSH excess. In addition, inactivating mutations of both human orthologs (FSHB and FSHR) have been characterized in a small number of patients, with phenotypic effects of the ligand disruption being more profound than those of its receptor. Activating human FSHR mutants have also been described in both sexes, leading to a phenotype of normal testis function (male) or spontaneous ovarian hyperstimulation syndrome (females). As determined from human and mouse models, FSH is essential for normal puberty and fertility in females, particularly for ovarian follicular development beyond the antral stage. In males, FSH is necessary for normal spermatogenesis, but there are differences in human and mouse models. The FSHB mutations in humans result in azoospermia; while FSHR mutations in humans and knockouts of both the ligand and the receptor in mice affect testicular function but do not result in absolute infertility. Available evidence also indicates that FSH may also be necessary for normal androgen synthesis in males and females.

The majority of children, adolescents, and young adults diagnosed with cancer will become long-term survivors. Although cancer therapy is associated with many adverse effects, one of the primary concerns of young male cancer survivors is reproductive health. Future fertility is often the focus of concern; however, it must be recognized that all aspects of male health, including pubertal development, testosterone production, and sexual function, can be impaired by cancer therapy. Although pretreatment strategies to preserve reproductive health have been beneficial to some male patients, many survivors remain at risk for long-term reproductive complications. Understanding risk factors and monitoring the reproductive health of young male survivors are important aspects of follow-up care. The Children's Oncology Group Long-Term Follow-Up Guidelines for Survivors of Childhood, Adolescent, and Young Adult Cancer (COG-LTFU Guidelines) were created by the COG to provide recommendations for follow-up care of survivors at risk for long-term complications. The male health task force of the COG-LTFU Guidelines, composed of pediatric oncologists, endocrinologists, nurse practitioners, a urologist, and a radiation oncologist, is responsible for updating the COG-LTFU Guidelines every 2 years based on literature review and expert consensus. This review summarizes current task force recommendations for the assessment and management of male reproductive complications after treatment for childhood, adolescent, and young adult cancers. Issues related to male health that are being investigated, but currently not included in the COG-LTFU Guidelines, are also discussed. Ongoing investigation will inform future COG-LTFU Guideline recommendations for follow-up care to improve health and quality of life for male survivors.

More than half of all people with cancer are treated with radiation therapy. Over the last decade the technical advances, both in therapy beam precision and imaging, have greatly improved the therapeutic ratio and accuracy of modern radiotherapy. However, damaging healthy tissues near the tumor leads to radiation induced injury that develops immediately and continue to progress long after exposure to radiation. Recently dramatic advances have been made in understanding the determinant of tissue response to radiation exposure.

Background: It is difficult to predict the reproductive capacity of children given hematopoietic cell transplantation (HCT) before pubertal age because the plasma concentrations of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) are not informative and no spermogram can be done., Methods: We classified the gonadal function of 38 boys and 34 girls given HCT during childhood who had reached pubertal age according to their pubertal development and FSH and LH and compared this to their plasma inhibin B and anti-Müllerian hormone (AMH)., Results: Ten (26%) boys had normal testicular function, 16 (42%) had isolated tubular failure and 12 (32%) also had Leydig cell failure. All 16 boys given melphalan had tubular failure. AMH were normal in 25 patients and decreased in 6, all of whom had increased FSH and low inhibin B.Seven (21%) girls had normal ovarian function, 11 (32%) had partial and 16 (47%) complete ovarian failure. 7/8 girls given busulfan had increased FSH and LH and 7/8 had low inhibin B. AMH indicated that ovarian function was impaired in all girls.FSH and inhibin B were negatively correlated in boys (P < 0.0001) and girls (P = 0.0006). Neither the age at HCT nor the interval between HCT and evaluation influenced gonadal function., Conclusion: The concordance between FSH and inhibin B suggests that inhibin B may help in counselling at pubertal age. In boys, AMH were difficult to use as they normally decrease when testosterone increases at puberty. In girls, low AMH suggest that there is major loss of primordial follicles.

Background: Infertility is one of the most prevalent health disorders in young adults., Objectives: To study the distribution of causes of infertility in couples referred to primary infertility clinics in Israel., Methods: Data for a 9 year period were derived from two clinics of major women's hospitals run by the country's largest health insurance fund. All patients were treated by one physician. Laparoscopy was not performed to rule out endometriosis., Results: Of the 2515 couples identified, 1991 (79.2%) had a definitive diagnosis following complete workup (including hysterosalpingography). Mean age was 29.6 +/- 6.0 years; mean duration of infertility was 1.7 +/- 1.8 years. Primary infertility accounted for 65% of cases. Causes of infertility were male factor (45%), oligo-ovulation disorders (37%), and tubal damage (18%). Infertility factors were identified in the woman alone in 30.6% of cases and the man alone in 29.2%. Two combined infertility factors were found in 18% of patients, and three combined factors in 0.5%. The rate of unexplained infertility (which probably includes non-tubal endometriosis) was 20.7%., Conclusions: As male factor accounts for almost half of all cases of infertility in couples, sperm analysis is mandatory before any treatment.

Female sexual dysfunction (FSD) affects ~50% of postmenopausal women. Unfortunately, it often goes undiagnosed because both patients and health-care providers may be reluctant to bring it up at an annual office visit. FSD encompasses both physical and emotional components, all of which are often intermingled. Exhaustion, anxiety, stress, interpersonal relationship issues, hormonal changes and their sequelae on vaginal tissue, medication side effects, and medical problems all play a potential role. This review discusses some of the common etiologies and diagnostic and management options., (© Thieme Medical Publishers.)

Inhibin B is a gonadal dimeric peptide, produced in men in testicular Sertolli cells. Inhibin B blood level knowledge can be a useful tool in the management of difficult diagnostic problems, such as ambiguous genitalia, the distinction between cryptorchidism and anorchidism and the hypogonadotrophic hypogonadism/delayed puberty differential diagnosis. Inhibin B measurements can help in gonadal dysgenesis evaluation, androgen insensitivity management and also in the diagnosis of some gonadal tumors. In adult men, inhibin B evaluation is helpful in the investigation of male infertility, especially in the judgment of the prognosis of testicular biopsy in in-vitro fertilization programs. Although commercial kits for inhibin B measurement are available at present, its evaluation is accessible in the Czech Republic for the time being in only very limited number of laboratory centers.

To establish the optimal age of sexual maturation in Egyptian children, Tanner's maturity stages were determined for a sample of children and adolescents (1550 girls, 1563 boys) ranging from 6.5 to 18.5 years. The mean age for attainment of pubic hair (stage PH2) was 10.46 (SD 1.36) years for girls and 11.86 (SD 1.45) years for boys. For axillary hair (stage A2), mean age was 11.65 (SD 1.62) years for girls and 13.55 (SD 1.52) years for boys. The mean age at menarche in girls was 12.44 years and for breast development (stage B2) was 10.71 (SD 1.30) years. Testicular volume by palpation showed that the mean age of genital stage G2 for boys was 10.56 (SD 1.40) years. The study results can aid in the assessment of sexual maturation and pubertal disorders in Egyptian adolescents.

Purpose: Complete treatment for Hodgkin's lymphoma (HL) may disturb functioning of different organs leading to deteriorated quality of future life. Endocrine complications are one of the most common and may be the result of radiotherapy of neck, mediastinal and infradiaphragmatic regions, as well as chemotherapy, especially with alkylating agents. The aim of our study was to analyse gonadal and thyroid disturbances in young adults after the treatment for HL in childhood., Material and Method: In 36 adolescents and young adults (19 males; mean age 20.5+/-3.1) 5.9+/-3.4 years after treatment for HL, we have examined the thyroid function (TSH, thyroxine-T4, tri-iodothyronine-T3, ultrasound) as well as gonadal function in males: FSH, LH, testosterone, inhibin B and in females: FSH,LH, estradiol, inhibin B and anti-müllerian hormone (AMH). Radiotherapy of supradiaphragmatic region was used in 34/36 patients and for infradiaphragmatic region in 17 patients (7 males). Chemotherapy was composed of B-DOPA and MVPP protocols., Results: 1. Signs of subclinical hypothyroidism (elevated TSH) were found in three survivors (irradiated on upper mediastinum). Ultrasonic abnormalities (simple nodules) were found in three patients after mantle radiotherapy. 2. In males the mean values of FSH were higher than in healthy boys (16.0 mIU/ml+/-13.0 vs 3.9 mIU/ml+/-2.0) p=0.0004, inhibin B- lower (50.1 ng/L +/- 43.5 vs.68.1 ng/L +/- 77.2) p = 0.0001, and testicular volume lower (17,3 ml+/-3.8 vs 18.5 ml+/-4.8) p = 0.05. The mean values of LH and testosterone were normal. Inhibin B<2SD and FSH>2SD in 6/19 males, LH>2SD in 4 cases (irradiated infradiaphragmatically) were found. 3. In females, we observed higher FSH values (8.53 mIU/ml+/-3.25 vs 5.8 mIU/ml+/-2.03) p=0.045; lower AMH (17.19 pmol/L+/-14.84 vs 29.40 pmol/L+/-13.2) p=0.05 and tendency to lower inhibin B (31.47 ng/L+/-18.83 vs 47.9 ng/L+/-26.39) p=0.08 than in control group. LH and estradiol concentrations did not differ in between groups. FSH>2SD, inhibin B and AMH<2SD were found in 5 girls (infradiaphragmatic irradiations in 4 cases)., Conclusions: Our observations show the possibility of different endocrine disturbances after combined treatment for HL, especially gonadal function disturbances. Considering these long-term complications, further follow-up is needed, even in the absence of clinical symptoms.

Cytotoxic chemotherapy and radiotherapy have improved the survival rates in many malignant conditions, particularly in paediatric patients with haematologic malignancies. Treatment is associated with significant morbidity in many patients, and alterations in gonadal function are among the most common long-term side effects of therapy. Chemotherapy and radiotherapy may damage germ-cell spermatogonia, resulting in impaired spermatogenesis or sterility in the male. This review describes gonadal dysfunction in males at risk of chemotherapy and radiotherapy and the type of malignancy in childhood induced infertility. The detection and diagnostic methods of gonadal damage in males after treatment for a childhood malignancy are also described and therapeutic strategies for preventing these problems are outlined.

Frailty is a geriatric syndrome that has been characterized by an increased vulnerability against external stressors. The aim of laboratory investigations in the context of frailty is to screen for conditions that are pathophysiologically related to the development of this syndrome. Successful therapy of these conditions may help to stabilize the elderly individual who is at risk for functional decline and increasing frailty. In this review laboratory parameters for the detection of anemia, impaired vitamin D intake, thyroid and gonadal function are described in their relationship with developing frailty.

We report the cases of 3 patients with brucellar gonadal abscess who were examined with gray-scale and color Doppler sonography. In these 3 cases, sonography revealed a thick-walled avarian (n = 2) or testicular (n = 1) abscess. Duplex Doppler sonography indicated a low-resistance type of flow in all 3 patients. The diagnosis of brucellar gonadal abscess is difficult, because it may have a misleading tumor-like appearance. Awareness of the imaging findings of gonadal abscess in patients with brucellosis and correlation with the results of serologic testing can allow early diagnosis, especially in endemic areas., ((c) 2007 Wiley Periodicals, Inc.)

Anti-Müllerian hormone (AMH), also called MUllerian inhibiting substance (MIS) is a product of supporting gonadal Sertoli and granulosa cells. Its main physiological role is the induction of regression of Müllerian ducts in male fetuses but it also plays a role in Leydig cell steroidogenesis and in follicular development. It is a member of the transforming growth factor B family and signals through two serine/threonine kinase receptors, only one of whom, type II, is specific. Type I receptors and the intracytoplasmic signaling molecules are shared with the bone morphogenetic family. AMH is positively regulated by SF1, SOX9 and FSH. Testosterone is a powerful downregulator. Males lacking functional AMH or AMH receptor genes do not undergo regression of MUllerian derivatives during fetal life. AMH is an excellent marker of prepubertal testicular function and has gained recognition as a valuable marker of follicular reserve in adult women.

The polycystic ovary syndrome (PCOS) in women belongs to the most frequent endocrinopathies. This syndrome is characteristic by a hormonal and metabolic imbalance. It seems to be a kind of an oligogenic disease resulting from the interaction among several key genes and environmental effects. Considering the genetic basis of this syndrome there is no reason why the syndrome could not occur in men as well, be it with a different symptomatic expression. Premature baldness before the age of thirty used to be suggested as a symptom of the male PCOS equivalent. Yet there still seems to be rather a meagre attention devoted to the endocrinological changes in men in the specialised literature, although there do exist genealogical studies on the occurrence of alopecia or glucose metabolic disorder in male members of the families where a considerable number of females were affected by PCOS.

We present a male patient with photosensitivity since the earliest months of his life, and pigmented macules in exposed areas, some showing clinical atypia, which increased in number over time. Molecular biology studies detected an alteration in DNA repair ability, so xeroderma pigmentosum was diagnosed. Shortly after birth, low weight, microcephaly and psychomotor retardation had been observed, but the cause was not established. The patient progressively showed neurological disorders that included perceptive deafness, hyporeflexia and areflexia, as well as choreoathetotic movements. Therefore, we felt that the patient's symptoms fit De Sanctis-Cacchione syndrome.

Diagnostic evaluation of patients with an abnormal gonad is complex because of multifactoral etio-pathogenesis and rarity of the conditions. In the text to follow, we have briefly discussed the embryology and attempted to classify abnormal gonadal disorders. The aims of evaluating such a child are to: (1) establish genetic sex; (2) determine the hormonal milieu; (3) evaluate the anatomy of internal and external genitalia and gonads; and (4) in older children, assess the phenotypic and psychological sex. In newborn children with ambiguous genitalia, the focus is now on accurate gender assignment. A team approach is needed and decisions are based on likely prognosis for behavior and gender orientation. The recent advances in cytogenetics have proven to be helpful in early and accurate diagnosis. In patients with an abnormal gonad, four conditions can present with sexual ambiguity at birth: female pseudohermaphroditism (or "virilized female"), true hermaphroditism, male pseudohermaphroditism (or "undervirilized male") and mixed gonadal dysgenesis. The role of clinical history and examination is emphasized in differential diagnosis and management. Timing of surgery for each of the conditions is discussed.

Anti-Mullerian hormone (AMH) is a gonadal hormone synthesized by granulose cells of the ovary and Sertoli cells of the testis. Anti-Mullerian hormone is used to facilitate the evaluation of intersex disorders and as a marker in some ovarian tumors or ovarian reserve assessment in the infertility cases. Serum levels of AMH hold objective information, which is useful in the clinical practice. Therefore it is necessary to decimate the normal and the abnormal levels of AMH.

A biomarker can be broadly defined as any biological index capable of being measured, which is associated with or indicative of a defined biological endpoint such as a developmental or disease stage. Identification and verification of anatomical, endocrine, cellular and molecular biomarkers is crucial for successful clinical diagnosis and treatment of toxicity and disease, as well as basic toxicological, epidemiological and other research. Various biomarkers of reproductive development and health have been identified, including those associated with pubertal development, adult reproductive health and pregnancy outcome. Herein we discuss those in situ biomarkers which have been more closely associated with toxicant action on the reproductive system. Biomarkers of toxicant exposure and susceptibility are addressed, but the majority of the review focuses on those biomarkers which may prove useful for determining current pathophysiological status or predicting future adverse outcomes. In males these are primarily associated with altered spermatogenesis and sperm parameters, and in females with altered endocrine function. We conclude that although few robust in situ biomarkers are currently available which are specific for toxicant exposure, susceptibility or effect in reproductive systems, there is expectation that post-genomic technologies offer a new paradigm for identifying and verifying such biomarkers as may exist.

Management of iatrogenic gonadal reproductive failure and sexual morbidity assumes a priority, especially in young recipients of high-dose chemotherapy and stem cell transplantation (SCT). Hormone replacement treatment (HRT) is beneficial for correction of sexual symptoms and osteoporosis in both sexes, especially in females. Sperm banking is the standard technique for preservation of fertility in adult and sexually mature adolescent males. Testicular tissue cryopreservation has a place in well-selected azoospermic adults and in mentally and sexually competent adolescents. In vitro fertilisation using superovulation with embryo-cryopreservation (for future embryo transfer) is the most tried method in female SCT recipients with good results. In mentally and sexually competent adolescents and adults without a partner, ovarian cortical tissue cryopreservation has a place for subsequent re-implantation to orthotopic or heterotopic sites. Gonadotrophin releasing hormone (GnRH) co-treatment during chemotherapy, is a promising method for the future. Although generally reassuring, continued monitoring of the offspring of SCT survivors and follow-up of all recipients of SCT is important for return of spontaneous or induced fertility.

The problems associated with hyperandrogenism are not uncommon in primary care settings. In fact, polycystic ovary syndrome, a common cause of androgen excess, exists in 5% to 10% of women during their reproductive years, with onset typically in adolescence. The subject of this column is the AACE's Hyperandrogenism Guidelines, which review the evaluation and treatment of the disorders causing androgenic excess.

Introduction: The effects of an intensive training programme involving screening of children for disorders of growth and puberty for community based nursing and medical staff employed by Cardiff Community Healthcare NHS Trust were audited to assess the impact of this training on referrals to the local hospital based growth clinic., Method: Referrals from community based staff to the growth clinic of patients living in the geographical area in which staff underwent training were compared with those from general practitioners in the 18 months prior to and following the training programme. Hospital notes were available for 209 of 254 (82.2%) patients identified. We excluded 112 referrals as they did not have a problem relating to growth or puberty or were inter-hospital referrals. Hence 97 referrals were included in the final audit., Results: Forty referrals occurred prior to compared with 57 following the training programme. The number of referrals from community based staff increased threefold during the six months immediately following the training programme but then returned to the previous level. There were no differences in age or height standard deviation scores at referral between groups at any time. The proportion of children referred from the community with significant abnormalities of growth or puberty (for example, hypothyroidism or precocious puberty) increased from two of 15 referrals to six of 30 referrals following the training programme., Conclusions: Intensive training in screening for disorders of growth and puberty can increase the number of referrals of children with significant pathology but at the cost of increased total number of referrals. The increase in referrals is not sustained with time, suggesting continued training is necessary.

Function of hypothalamic-pituitary-ovarian axis is an essential factor for the maintenance of regular cycles in mature women. The disturbance of function of those organs causes gonadal dysfunction such as anovulation, amenorrhea and menstrual disorders. Therefore, the correct diagnosis for the assessment of CNS and ovarian function is clinically important to treat the patients those who have an menstrual disorders. In this review, the mechanism of normal gonadal cycles and the diagnostic method and the treatment of gonadal dysfunction are described.