46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report

Anil Kumar Sah,Bipin Maharjan,Mahesh Bahadur Adhikari,Mimi Giri,Suman Baral

doi:10.3126/jaim.v10i1.37096

Abstract

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. Genetic males with DSD (46 XY DSD) can present with female external genital phenotype, ambiguous, or a micropenis. It is caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. It results either from decreased synthesis of testosterone or DHT or from impairment of androgen action. Herein, we report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris with hormonal assessment not suggestive of either 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome or 17β-Hydroxysteroid Dehydrogenase deficiency

Highlights

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level
IINnTtRroOdDuUcCtTioIOnN DSD are collection of rare conditions with atypical genitalia in the newborn period or as delayed puberty in an adolescent. They are generally characterized by an abnormality of the chromosomal, gonadal or phenotypic features that typically define sex development.[1]. Reported incidence of DSD is 1:4,500 births,(2) whereas a concern about the development of the external genitalia may, exist in one in 300 newborn infants[1]
We report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris

Summary

Introduction

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. They are generally characterized by an abnormality of the chromosomal, gonadal or phenotypic features that typically define sex development.[1] Reported incidence of DSD is 1:4,500 births,(2) whereas a concern about the development of the external genitalia may, exist in one in 300 newborn infants[1]. Sometimes it is difficult to reach the final diagnosis of the DSD. We report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris.

Results

Conclusion