Clinicoepidemiological Profile of Disorders of Sex Development Presenting to a Tertiary Care Center: A Descriptive Observational Study.

Background and objective: The prevalence of disorders of sex development (DSD) is estimated to affect approximately 1 in 4500-5500 newborns, yet there is a dearth of studies, particularly in Central India, on this topic. This study aims to identify prevalent types of DSD in this region, analyze clinical patterns, and explore associated factors to enhance medical services for DSD management.

Materials and methodology: A prospective observational study was conducted at a tertiary care center in Central India from February 2022 to June 2023. Children presenting with conditions such as hypospadias, micropenis, and female hernia were included in the study, while those over 18 years old and specific hypospadias cases were excluded from the study. Detailed patient histories and clinical examinations focusing on external genitalia and associated anomalies were recorded to estimate DSD prevalence, positivity rates, and phenotypic correlations.

Results: Among 40 patients meeting inclusion criteria (mean age: 5.38 years), 35% were diagnosed with DSD, predominantly 46 XY DSD. Five-alpha reductase deficiency was the leading cause in 46 XY DSD, while congenital adrenal hyperplasia predominated in 46 XY DSD. The study provides valuable epidemiological insights into DSD types prevalent in Central India, though limited by financial constraints precluding genetic analysis.

Conclusion: This study addresses the knowledge gap in Central India, which can contribute to improved understanding and management of DSD. The difference in the incidence of the common cause of DSD is different in our study compared to the existing literature because of broader inclusion criteria. This highlights the importance of evaluating children presenting with proximal penile hypospadias, undescended testes, and females with inguinal hernia for timely intervention.