CLASSIFICATION, CLINICAL PRESENTAION AND MANAGEMENT OF DISORDER OF SEXUAL DEVELOPMENT IN ST PAUL HOSPITAL MILLENIUM MEDICAL COLLEGE

Abstract

Abstract Background: Disorders of sexual development (DSD) were defined in the Chicago Consensus, 2006 as congenital conditions in which the development of chromosomal, gonadal and anatomical sex is atypical (Rojas, 2020). There are no clear estimates of the incidence rate of subjects presenting with ambiguous genitalia at birth, and only a proportion of them present a major challenge regarding male or female assignment. There is a paucity of data on the incidence; however, it has been estimated to be approximately 1 in 4,500–5,500. Objectives: The objective of the study was to assess classification, clinical presentation and management of DSD patients from the Pediatric Endocrine OPD in SPHMMC Methods: A Retrospective cross- sectional study done in SPHMMC consisting source population of All pediatric age group that came to endocrinology follow up clinic of pediatrics and child health department SPHMMC Results: This study involved a total of 54 patients, which were evaluated at the endocrine OPD in the study period. Majority (80%) of the patients presented with observation of ambiguous genital. Additional 5.6% (3) had ambiguous genital along with congenital malformations. Out of the 30 patients who had karyotype done, majority of them were found to have 46 XY DSD 21 (70%) Conclusion and recommendations: In this study a delayed presentation of patients was observed with ambiguous genital being the most common presenting complaint. Based on these findings we recommend a meticulous genital exam of new born to be done after delivery. We also recommend to strengthen the multi-disciplinary team management of the patients. We also recommend evaluation of all DSD patients at the endocrinology unit before surgical intervention is done.