ESPE Abstracts

Disorders of sex development (DSD) comprise a heterogeneous group of conditions involving interference with normal sex differentiation and hormonal production in the embryo resulting in relatively rare conditions having diverse pathophysiology. The aim of the current work is to study the clinical characteristics and testicular function of patients with 46 XY DSD. A cross-sectional study was done included children with initial presentation of atypical genitalia and satisfied the criteria of DSD classification. Hormonal assays for luteinizing hormone, follicle-stimulating hormone, testosterone, dihydrotestosterone, androstenedione, AMH & Inhibin B and human chorionic gonadotropin (hCG) stimulation were done. A total of 33 patients were included with a mean age of 1.89 ± 2.44 years. Ambiguous genitalia were the commonest presentation (82%). Majority of patients (75.8 %) were reared as males. There were significant positive correlations between basal inhibin B, AMH, FSH and testosterone response after hCG stimulation test (P< 0.029, <0.001 and <0.004). Similarly, there was a significant positive correlation between basal AMH and inhibin B (P<0.025). Five alpha reductase enzyme type 2 deficiency was the most common diagnosis (45.5% of cases). We concluded to elucidating the exact cause of 46 XY DSD is often cumbersome and challenging in a resource constrained developing countries. Despite the clear genital ambiguity, most of our patients were reared as males. Basal AMH or inhibin B is highly predictive of the presence and function of testes although that cannot obviate the need for hCG test in the work-up.