The term “differences of sex development (DSDs)” refers to a group of clinically and etiologically heterogeneous congenital conditions wherein the development of chromosomal, gonadal, or anatomic sex is atypical. Disorders associated with ambiguous genitalia as well as those with hypogonadism are included within the umbrella term of DSD. DSDs can occur in isolation or as part of a syndrome with multisystemic involvement. Chromosomal analysis and endocrinology evaluation are essential in every individual suspected to have a DSD. Based on the chromosomal pattern, DSDs are broadly classified as sex chromosome DSDs, 46,XY DSDs, and 46,XX DSDs. Management involves hormonal therapy, management of reproductive issues, genitoplasty for genital ambiguity, and treatment of associated systemic involvement in syndromic patients. Counseling regarding management options can be challenging particularly with respect to decision-making regarding the sex of rearing and should be done by a multidisciplinary team involving a clinical geneticist, an endocrinologist, a genitourinary surgeon, and a psychologist. This review provides an overview of the clinical approach, diagnostic evaluation, management options, and counseling for DSDs.
Prajnya Ranganath (Mon,) studied this question.