Abstract 77: Clinical Profile of Disorders of Sex Development (DSD) at a tertiary care center in South India

Introduction: Disorder of sex development (DSD) is defined as congenital condition in which the development of chromosomal, gonadal, or anatomic sex is atypical. It is a social and medical emergency that requires a multidisciplinary team approach for appropriate diagnosis and management. Objective: To study the clinical profile of patients with DSD presenting to a tertiary care center in South India. Methods: Retrospective analysis. 42 patients with DSDs were included. Patients with Turner and Klinefelter syndrome were excluded. Detailed history including age and mode of presentation, sex of rearing, any genital surgeries were noted. The hormonal profile of the patients included serum 17 OHP (basal or stimulated), LH, FSH, Testosterone (T), Dihydrotestosterone (DHT), Androstenedione (A) as indicated. Results: 23 of 42 patients (54%) had 46 XX DSD and 18 patients (42%) had 46 XY DSD. One child had 47 XXY DSD with STAR deficiency (genetically proven). Majority of the patients with DSDs had Congenital Adrenal Hyperplasia (n = 23, 54%). Among CAH, Simple Virilising CAH (n = 21) is the most common variety with 3 of them being 11 beta hydroxylase deficiency. Other forms of CAH included Classic salt wasting, 3 beta HSD and STAR deficiency (n = 1 each). 8 patients (19%) were diagnosed to have 5 alpha reductase deficiency and 3 patients (7%) with androgen biosynthetic defects. 4 patients (9%) had Gonadal dysgenesis (Complete and Partial Gonadal Dysgenesis, Mixed Gonadal Dysgenesis with Gonadoblastoma, Ovo testicular DSD; n = 1 each). Two patients had Androgen insensitivity Syndrome (CAIS/PAIS; n = 1 each). One child had Y q deletion. 19 patients (45%) presented at birth or within 5 years of birth with crises/atypical genitalia. Eleven patients (26%) presented between 5 to 10 years of age with atypical genitalia. Rest of them presented in peri or post pubertal period. 5 patients of Simple Virilizing CAH (23%) presented with precocious puberty. 4 patients of 46 XX DSDs (17%) were reared as males. 7 patients (38%) of 46 XY DSDs were reared as females. Around 50% of the patients (n = 21) underwent genital reconstruction surgeries/gonadectomy. Conclusion: CAH is the most common cause of DSDs in our series. Though 21 hydroxylase deficiency is the most common form of CAH, with the availability of genetic studies other forms of CAH are also being diagnosed. 5 alpha reductase deficiency diagnosed biochemically contributed to 19% of our DSDs. Majority of our patients presented before 10 years of age with atypical genitalia. Early diagnosis and appropriate counselling may prevent psychological suffering and gender dysphoria in these patients.