Clinical, Genetic, Biochemical, Hormonal, and Radiological Profile in Patients with Disorders of Sex Development Presenting at a Tertiary Care Center in Central India

Abstract

Introduction: Disorders of sexual differentiation or differences in sex development (DSD) is a congenital anomaly with abnormal differentiation between internal gonads and external genitalia. We present the clinical, genetic, biochemical, hormonal, and radiological profile of DSD patients who presented at a tertiary care institute in Chhattisgarh during 2 years. Methodology: All patients with DSD and age <18 years who presented in the Outpatient Department of Pediatrics and Pediatric Surgery between January 2022 and December 2023 (2 years) in All India Institute of Medical Sciences, Raipur, Chhattisgarh, were included in this study. Our aim was to study the clinical, genetic, biochemical, hormonal, and radiological profile of patients with DSD presenting at our institute to outline the management plan in these patients. Results: During the study period, there were seven patients with DSD; with age ranging from 1 year to 15 years. Four patients presented in adolescent age. There were two patients with XXDSD – diagnosed to have classic congenital adrenal hyperplasia (21-hydroxylase deficiency). There was one patient with XYDSD – androgen insensitivity. Four patients had ovotesticular DSD – two had pure gonadal dysgenesis and two had mixed gonadal dysgenesis. Four patients needed gender reassignment. Conclusion: Patients with DSD require a systematic management at a tertiary care center. Assigning the sex of rearing should be done only after proper workup of patients and arriving at a diagnosis. Proper counseling of parents and individualized management as per the Indian Association of Pediatric Surgeons guidelines is mandatory.

Keywords

• disorder of sex development
• gender assignment
• karyotype
• mixed gonadal dysgenesis
• testosterone