A Case of Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Presented With Acute Liver Failure

Sarah Alpini, Rasheda J. Vereen, Amy Quinn

Research output: Contribution to journalArticlepeer-review

Abstract

Congenital adrenal hyperplasia (CAH) is a group of rare autosomal disorders characterized by a variety of defects in adrenal steroidogenesis. Most cases of CAH are due to an enzyme deficiency in either 21-hydroxylase or 11-beta-hydroxylase. A much rarer form of CAH due to 3-betahydroxysteroid dehydrogenase (3B-HSD) deficiency results in impaired synthesis of all steroid hormones. The clinical presentation of undervirilization in 46 XY patients, hyponatremia, hyperkalemia, and recurrent hypoglycemia in 3B-HSD deficiency cases is well described in the literature. We describe a neonate with 3B-HSD deficiency that presented with ambiguous genitalia and hypoglycemia and was found to have comorbid coagulopathy, cholestasis, and direct hyperbilirubinemia with liver failure that resolved with glucocorticoid and mineralocorticoid treatment. Prompt recognition of this disease is imperative for timely intervention.

Original languageEnglish (US)
JournalJournal of Neonatology
DOIs
StateAccepted/In press - 2022

Keywords

  • Endocrinology and metabolism
  • genetics
  • neonatal care
  • neonatology/perinatology
  • newborn

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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