Disorders of Sex Development

Objective: We studied the clinical profile, etiology, and outcome of patients with disorders of sex development (DSD). Design/Setting: Retrospective study/tertiary care hospital. Methods/Patients: All patients were registered in the Endocrine clinic of the Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2005. Results: Of 95 patients with DSD, 45 (47.4%) had 46, XX DSD, 45 (47.4%) had 46, XY DSD, while sex chromosomal DSD was identified in 4 (4.2%) and in one patient the disorder could not be defined. Forty-four patients (46.3%) had congenital adrenal hyperplasia (CAH), making it the most frequent cause for DSD. Of the 45 patients with 46, XX DSD, 37 patients (82.2%) had CAH and 6 (13.3%) had an ovotesticular DSD (true hermaphroditism). One patient had lower vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome variant) and another had 46, XX testicular DSD (XX male). Of the 45 patients with 46, XY DSD, 7 each (15.6%) had androgen insensitivity and CAH. Six (12.2%) had 5-α reductase deficiency, 4 (8.9%) had dysgenetic testes and 2 (4.4%) had a lutenizing hormone receptor mutation. Four patients (8.9%) had vanishing testes syndrome, and 3 (6.7%) had genital ambiguity associated with other congenital anomalies. One patient had 46 XY ovotesticular DSD. Two patients (4.4%) had bilateral cryptorchidism and 9 (20.0%) patients had idiopathic hypospadias. Four patients (4.2%) had sex chromosome DSD (mixed gonadal dysgenesis). Sex of rearing was concordant with genetic sex in all CAH patients except 9 genetic females with male gender identity, role, and orientation. The majority of patients with ovotesticular 46, XX DSD were reared as males. Sex of rearing and gender identity was concordant in all patients except in 3 patients with 5-α reductase deficiency who changed to male sex at puberty. One patient with undefined etiology presented with a lower abdominal mass that proved to be a gonadoblastoma, the only such tumor observed in our series. Social and cultural factors may have played a role on the sex of rearing even after explaining future fertility prospects. Conclusion: The clinical profile of various etiologies of DSD observed over the past 2 decades is presented using the recent classification. Forty-six, XX DSD was as common as that of 46 XY, DSD, and CAH was the most common cause of DSD. Sex of rearing in the majority of instances was influenced by social and cultural factors.