A clinical algorithm to diagnose differences of sex development.

Authors :: León NY
Reyes AP
Harley VR
Source :: The lancet. Diabetes & endocrinology [Lancet Diabetes Endocrinol] 2019 Jul; Vol. 7 (7), pp. 560-574. Date of Electronic Publication: 2019 Feb 22.
Publication Year :: 2019
Abstract: The diagnosis and management of children born with ambiguous genitalia is challenging for clinicians. Such differences of sex development (DSDs) are congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. The aetiology of DSDs is very heterogenous and a precise diagnosis is essential for management of genetic, endocrine, surgical, reproductive, and psychosocial issues. In this Review, we outline a step-by-step approach, compiled in a diagnostic algorithm, for the clinical assessment and molecular diagnosis of a patient with ambiguity of the external genitalia on initial presentation. We appraise established and emerging technologies and their effect on diagnosis, and discuss current controversies.<br /> (Copyright © 2019 Elsevier Ltd. All rights reserved.)