Disorders of Sexual DevelopmentPathological Profile of 45 Cases at a Tertiary Care Centre

Abstract

Disorders of Sexual Development (DSD) are rare syndromes, which show congenital discordance between chromosomal, gonadal and phenotypic sex. A retrospective analysis was performed to analyse the histopathological profile and spectrum of a large number of cases of DSD received at a tertiary care center. There were 45 cases of DSD encountered over a period of eight years, from January 2012 to December 2020. Detailed evaluation of each case with respect to demographic details, clinical features, imaging and pathology was done. All cases were classified as per Chicago Consensus Classification (2006) modified in 2010. The 46, XY DSD were the most common 26 (57.78%) cases, followed by sex chromosomal DSD 14 (31.1%) and 46,XX, DSD 5 (11.1%). Among 46, XY DSD, Complete Gonadal Dysgenesis (CGD) (Swyer syndrome) and Complete Androgen Insensitivity Syndrome (CAIS) had the highest number of cases, with 30.77% cases of each. Among 46XX, DSD, cases of ovotesticular DSD amounted to 80%. In sex chromosomal DSD, cases of Mixed Gonadal Dysgenesis (MGD) amounted to 78.57%. Out of 45 cases studied in this series, 20% cases showed neoplasms, of which 8.89% were malignancies. Nine out of 45 (20%) patients had neoplasms, out of which 5 (55.6%) had benign tumours while 4 (44.4%) had malignant tumours. Five patients had gonadoblastoma and three of these had coexistent dysgerminoma. Two patients had sertoli cell adenomas, one seminoma and one serous cystadenoma. Frequent clinical features noted were primary amenorrhea seen in 25 (55.5%) cases and ambiguous genitalia seen in 18 (40%) cases, while the most common location of gonad was intra-abdominal in 30 (66.6%) cases. Streak gonads were seen in CGD, MGD and Turner’s syndrome. Malignant germ cell tumours were seen in CGD and CAIS. Early diagnosis, good histopathology and follow-up are essential in the management of DSDs