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Published on: October 2, 2018

A Delayed Presentation of Salt-Wasting Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase

Bayan Manaf Ghareeb1, Fatema Naser Shakeeb1, Maryam Busehail2

  • 1Medicine, Royal College of Surgeons in Ireland, Busaiteen, BHR.

Cureus
|June 15, 2026
PubMed

Insights

Congenital adrenal hyperplasia (CAH) can present later in life. A two-month-old infant experienced a life-threatening adrenal crisis due to 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency, highlighting diagnostic challenges.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Congenital adrenal hyperplasia (CAH) comprises inherited disorders of adrenal steroid synthesis.
  • CAH can cause adrenal insufficiency, salt-wasting crises, and disorders of sex development.
  • While often diagnosed neonatally, rarer defects present later, complicating diagnosis.

Keywords:
3β-hydroxysteroid dehydrogenase deficiencyadrenal crisisambiguous genitaliacongenital adrenal hyperplasiadelayed presentationsalt-wasting cah

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