STUDY OF THE CLINICAL PROFILE AND AETIOLOGY OF VARIOUS DISORDERS OF SEX DEVELOPMENT PRESENTING TO ENDOCRINE OPD OF A TERTIARY CARE HOSPITAL

BACKGROUND Disorders of Sex Development (DSD), formerly described as intersex conditions, are a conglomerate of rare disorders defined as discrepancy of chromosomal, gonadal or anatomic sex. There are limited data on the incidence of DSD with an overall incidence of 1:5,500, but varies with population. Congenital adrenal hyperplasia and mixed gonadal dysgenesis are the most common causes of ambiguous genitalia constituting approximately 50% of all cases presenting with genital ambiguity at birth. The aim of the study is to study the clinical profile and aetiology, mean age of presentation of common aetiologies, initial sex of rearing based on genital ambiguity and correctness of sex of rearing since birth as compared to genetic karyotype after diagnosis of patients of various disorders of sex development presenting to endocrine OPD of a tertiary care hospital. MATERIALS AND METHODS We assessed the records of patients who were evaluated for hypogonadism and genital ambiguity between March 2014 to June 2017 in our endocrine department. The patients were classified on the basis of clinical features, hormonal investigations, imaging studies, karyotype and laparoscopy/biopsy studies as indicated. Design- Cross-sectional study. RESULTS Distribution of DSD by category were 46, XY DSD (41.6%); 46, XX DSD (27.3%); SCD DSD (30.9%). Distribution of DSD by subtypes were 46, XY DSD; -5α reductase (37.1%); IHH (20.1%); Kallmann syndrome (14.28%); bilateral anorchia (11%); PAIS (8.5%); CAIS (2.8%); CAH (2.8%); 46, XX DSD-CAH (34.1%); IHH (21.7%); 46, XX OTD (13%); ACC (8.6%); classic CAH (4.3%); SCD DSD-KFS (53.8%); TS (38.4%) and MGD (7.69%). Mean age of presentation of DSD; 5α reductase (7.5 yrs.), PAIS (14.33 yrs.), CAH (9.3 yrs.), KFS (25 yrs.) and TS (17 yrs.). CONCLUSION 46 XY DSD comprises 41.6% of cases of which 5α reductase deficiency is the most common aetiology. CAH was the main subtype of 46, XX DSD. KFS was the main subtype of SCD DSD. DSD pose a serious challenge not only in terms of gender role, identity and sex reassignment, but also in terms of fertility issues, social acceptance and risk of gonadal malignancy in certain subtypes.