Disorders of sex development: a study of 194 cases

Abstract

Objective: To study the clinical profile and the management of patients with disorders of sex development (DSD).

Design and setting: Retrospective study from a tertiary care hospital of North India.

Methods and patients: One hundred ninety-four patients of DSD registered in the Endocrine clinic of Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2014 were included.

Results: One hundred and two patients (52.5%) had 46,XY DSD and seventy-four patients (38.1%) had 46,XX DSD. Sex chromosome DSD was identified in seven (3.6%) patients. Of 102 patients with 46,XY DSD, 32 (31.4%) had androgen insensitivity syndrome and 26 (25.5%) had androgen biosynthetic defect. Of the 74 patients with 46,XX DSD, 52 (70.27%) had congenital adrenal hyperplasia (CAH) and eight (10.8%) had ovotesticular DSD. Five patients with sex chromosome DSD had mixed gonadal dysgenesis. Excluding CAH, majority of the patients (90%) presented in the post-pubertal period. One-fourth of the patients with simple virilising CAH were reared as males because of strong male gender identity and behaviour and firm insistence by the parents. Corrective surgeries were performed in twenty patients (20%) of 46,XY DSD without hormonal evaluation prior to the presentation.

Conclusion: Congenital adrenal hyperplasia is the most common DSD in the present series. Most common XY DSD is androgen insensitivity syndrome, while CAH is the most common XX DSD. Delayed diagnosis is a common feature, and corrective surgeries are performed without seeking a definite diagnosis.

Keywords: androgen biosynthetic defect; androgen insensitivity syndrome; congenital adrenal hyperplasia; disorders of sex development.

Figure 1

Low power photomicrograph to show seminiferous tubules with Sertoli cells only with prominent interstitial Leydig cells. At the left upper corner is the collection of seminiferous tubules containing germ cells (H&E, ×50).

Figure 2

Low power photomicrograph showing both ovarian and testicular tissue in one low power field area. The Graafian follicle is seen at upper and left hand side of the picture with ovarian stroma. Seminiferous tubules are seen at the lower part of the picture and highlighted by thick arrows (H&E, ×50). The same has so been given in the inset showing seminiferous tubules with thickened basement membrane interspersed with Leydig cell (H&E, ×250).