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DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.11222.3

Abstract

Disorders of sex development are congenital conditions where chromosomal, gonadal and anatomical sex of an individual is atypical. The sex of an individual is governed by chromosomal complement, which in turn decides the development of bi-pontential gonad and differentiation of external as well as internal genitalia into a definitive human sex either male or female. Though this is the general plan of sex development, most of the times in spite of being normal chromosomal complement, the gonadal and/ or genital sex is discordant leading to conditions known as disorders of sex development. Depending upon the chromosomal complement, these conditions are classified as (a) sex chromosome DSD (b) 46, XY DSD and (c) 46, XX DSD. Though most of the DSDs present at infancy with genital ambiguity and other clinical features, some of these conditions may not present or get recognized until adolescence and presenting as lack of pubertal development or primary amenorrhea. This leads to a social stigma to the patient as well as the family members and proper counselling and management of these cases can be improved by understanding the molecular pathology of these conditions. This review helps to understand the molecular genetics of 46, XY DSD in adolescent females who present as lack of puberty and primary amenorrhea.

Keywords : Disorders of sex differentiation (DSD); Primary amenorrhea; 46, XY gonadal dysgenesis; Complete androgen insensitivity syndrome; Molecular genetics.

Corresponding Author : Babu Rao Vundinti, Scientist "F", Department of Cytogenetics, ICMR-National Institute of Immunohematology, K.E.M. Hospital Campus, Parel, Mumbai 400012, Maharashtra, India.vbaburao@hotmail.com