Journal
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
Volume 48, Issue -, Pages 90-102Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.bpobgyn.2017.11.005
Keywords
Disorders of sex development; Ambiguous genitalia; Congenital adrenal hyperplasia; Urogenital anomalies
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Funding
- NIDA NIH HHS [R21 DA037958] Funding Source: Medline
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Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of molecular events that lead to male sex development. Disorders of sex development comprise a heterogeneous group of congenital conditions associated with atypical development of internal and external genitalia. These disorders are generally attributed to deviations from the typical progression of sex development. Disorders of sex development can be classified into several categories including chromosomal, gonadal, and anatomic abnormalities. Genetic tools such as microarray analyses and next-generation sequencing techniques have identified novel genetic variants among patients with disorders of sexual development. Most importantly, patient management needs to be individualized, especially for decisions related to sex of rearing, surgical interventions, hormone treatment, and potential for fertility preservation. (C) 2017 Elsevier Ltd. All rights reserved.
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