Nonvirilized Genitalia in 3 female newborns with the salt-wasting congenital adrenal hyperplasia phenotype

Lauren Yauch, Allison Mayhew, Veronica Gomez-Lobo, Kim Shimy, Kyriakie Sarafoglou

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Article numberbvaa169
JournalJournal of the Endocrine Society
Volume5
Issue number1
DOIs
StatePublished - 2020

Bibliographical note

Publisher Copyright:
© 2020 The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society.

Keywords

  • Congenital adrenal hyperplasia
  • Genitalia
  • Genotype/phenotype
  • Newborn screening
  • Virilization

PubMed: MeSH publication types

  • Case Reports

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