Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype.

Autor:	Yauch L; Division of Endocrinology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota., Mayhew A; Division of Pediatric and Adolescent Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.; Division of Pediatric and Adolescent Gynecology, Children's National Medical Center, Washington, DC., Gomez-Lobo V; Division of Pediatric and Adolescent Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.; Division of Pediatric and Adolescent Gynecology, Children's National Medical Center, Washington, DC., Shimy K; Division of Endocrinology, Children's National Medical Center, Washington, DC., Sarafoglou K; Division of Endocrinology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota.; Department of Experimental and Clinical Pharmacology, University of Minnesota College of Pharmacy, Minneapolis, Minnesota.
Jazyk:	angličtina
Zdroj:	Journal of the Endocrine Society [J Endocr Soc] 2020 Nov 05; Vol. 5 (1), pp. bvaa169. Date of Electronic Publication: 2020 Nov 05 (Print Publication: 2021).
DOI:	10.1210/jendso/bvaa169
Abstrakt:	Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a form of primary adrenal insufficiency characterized by impaired cortisol secretion and elevated androgen production, is the leading cause of atypical genitalia in the female newborn. Females with classic CAH, either salt-wasting or simple-virilizing form, usually present at birth with atypical genitalia ranging from clitoromegaly to male-appearing genitalia, due to in utero to elevated androgens (androstenedione and testosterone). Females with mild nonclassic CAH usually present with typical genitalia. Proving the importance of always keeping an open mind for exceptions to the rule, we report on 3 female newborns who presented with the nonvirilized genitalia, salt-wasting CAH phenotype and genotype most consistent with simple-virilizing CAH. It is only through a positive newborn screen identifying the females with CAH that they were diagnosed before developing adrenal and/or salt-wasting crisis. (© The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu