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Context: Porcine sequence corticotropin (PSC) stimulation test (PSCST) is a reliable, cost-effective alternative to the short Synacthen test. Long-acting PSC is widely available as a 300 IU multidose vial (60 IU per 1 ml). Aims: To compare the efficacy of lower doses of PSC that can be given directly from the multidose vial without reconstitution, with standard dose in assessing the hypothalamic pituitary adrenal (HPA) axis in healthy individuals. Settings and Design: Prospective study comparing different doses of PSC. Methods and Material: In 13 healthy volunteers, serum Cortisol was estimated at 30 and 60 minutes after intramuscular administration of 24IU/250 µg standard dose (0.4 ml) and lower doses of PSC (18 IU/0.3 ml/;12 IU/0.2 ml; and 6 IU/0.1 ml), with a gap of 4 weeks between each dose. Statistical Analysis Used: Mean ± SD was used to express quantitative variables. ANOVA and paired T-test were used for statistical analysis. Results: The mean ± SD of peak Cortisol levels after PSCST with all doses of PSC were >18 ug/dl. The means of peak Cortisol responses to different doses of PSC among subjects were comparable. In a subject, there was no significant dose effect and interaction (dose x time) effect indicating that the different doses were comparable (both at 30 and 60 minutes) (p = 0.735). Conclusions: All tested lower doses of PSC obtained from the multidose vial without reconstitution, including the lowest dose (6 IU/62.5 µg) tested, were comparable in efficacy to the standard dose (24IU/250 µg) in assessing the adequacy of HPA axis in healthy individuals.
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BACKGROUND: Disorders of sex development (DSD) are a wide range of relatively rare conditions having diverse pathophysiology. Identification of an underlying cause can help in treating any coexisting hormone deficiencies and can help with anticipating any other immediate or long-term health concerns. OBJECTIVE: To study the clinical and biochemical profile of patients with 46 XY DSD along with androgen receptor (AR) gene mutation status in selected group of patients. METHODS: A cross-sectional study was conducted after enrolling the eligible DSD patients. Thorough elicitation of history and detailed clinical examination was done. Assays for luteinizing hormone, follicle-stimulating hormone, testosterone, dihydrotestosterone, androstenedione, AMH & Inhibin B (where indicated), and human chorionic gonadotropin stimulation were done as per protocol. RESULTS: In total, 48 patients were included in the study. Ambiguous genitalia (58.3%) followed by hypospadias (33.3%) were common presentation. Androgen biosynthetic defect were the most commonly encountered diagnosis followed by androgen insensitivity syndrome (AIS). Swyer syndrome was diagnosed in 4.2% of cases; partial gonadal dysgenesis, ovotesticular DSD, and vanishing testis syndrome contributed to 2% of cases each. Eight cases (16.7%) who presented with isolated proximal and midshaft hypospadias for whom no diagnosis was found were categorized in the "etiology unclear" group. AR gene mutation analysis designed against specific exons did not yield any results. CONCLUSION: 46 XY DSD is a heterogeneous group of patients with a varying age of presentation and a diverse clinical profile. Most patients are reared as males and maintained the same gender identity except in isolated cases. Diagnosis of AIS remains a clinical challenge as a definite hormonal criterion does not exist and genetic mutations in AR gene may be negative. Flanking region sequencing, whole genome sequencing, and promoter region sequencing may reveal pathogenic variants. Variations in other genes regulating AR pathway may also be candidates to be studied.
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CONTEXT: The last few decades have witnessed an alarming increase in the prevalence of the metabolic syndrome (MetS) worldwide including India. Apart from the known risks of MetS in terms of cardiovascular risk and mortality, there is increasing evidence that it also leads to alteration in testicular function and fertility. AIMS: To assess the presence of hypogonadism and Sertoli cell dysfunction in young adult males with MetS and correlate these parameters with different components of the MetS. SETTINGS AND DESIGN: Cross-sectional study conducted in the Department of Endocrinology, Gauhati Medical College, a tertiary care hospital in North East India. SUBJECTS AND METHODS: Young adult males with MetS aged 20-40 years and age-matched healthy males who served as controls were examined clinically. Laboratory investigations done in the fasting state included blood glucose, lipid profile, serum follicle-stimulating hormone (FSH), inhibin B and total testosterone (Te). Semen was collected after 3 days abstinence and analysis done. STATISTICAL ANALYSIS: Baseline parameters were presented as median and 'Kruskal-Wallis' test was used to compare them. Pearson test and multiple regression analysis were used to assess the correlation and association between variables. RESULTS: Fifty cases with MetS and 30 controls were included in the study. Subjects with MetS had significantly lower levels of total Te, FSH and inhibin B. They also had significantly lower semen volume, sperm count and total as well as progressive motility. There was a significant negative correlation of waist circumference and positive correlation of inhibin B with total sperm count. A significant negative association of serum triglycerides with semen volume was also found. CONCLUSION: MetS is a state of hypogonadotropic hypogonadism as reflected by low total Te, FSH and inhibin B levels with semen abnormalities reflecting Sertoli cell dysfunction.