Aetiology and clinical profile of children with 46, XY differences of sex development at an Indian referral centre

摘要

46, XY differences of sex development (DSD) constitute a heterogenous group of rare genetic defects. Definitive aetiological diagnosis cannot be made in more than half of these cases. The aim of our study was to prospectively evaluate and assign a probable diagnosis based on clinical and biochemical parameters in children with 46, XY DSD. Prospective clinical and biochemical screening was performed in a series of 46, XY children referred to paediatric endocrine services of our centre. Forty children with 46, XY DSD were investigated, and presumptive aetiological diagnoses of 5-alpha reductase deficiency (5 alpha RD), partial gonadal dysgenesis (PGD), partial androgen insensitivity syndrome (PAIS), congenital bilateral anorchia (CBA), congenital lipoid adrenal hyperplasia (CLAH), ovotesticular DSD (OT-DSD) and Frasier syndrome (FS) were made. The most frequent cause of 46, XY DSD in our cohort was 5aRD (40%) followed by PGD (27.5%). Our study illustrates the complexity of 46, XY DSD with a significant overlap of phenotype and endocrine parameters between the different conditions. 5aRD was considered to be the predominant cause in our cohort.