11β Hydroxylase Deficiency in a Child with Hypothyroidism: A Case Report

JNMA J Nepal Med Assoc. 2023 Dec 1;61(268):956-957. doi: 10.31729/jnma.8378.

Abstract

Congenital adrenal hyperplasia occurs due to enzymatic defects in the adrenocortical steroidogenesis. 11β hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia which presents with hypertension and features of androgen excess. Hypertension has also been found to cause end-organ damage in children with 11β hydroxylase deficiency. We report a case of a 10-year-old male child with hypothyroidism under thyroid replacement therapy, presenting with features of severe hypertension and androgen excess, later on, diagnosed as congenital adrenal hyperplasia due to 11β hydroxylase deficiency.

Keywords: case reports; congenital adrenal hyperplasia; hypertension; hypothyroidism.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital* / complications
  • Adrenal Hyperplasia, Congenital* / diagnosis
  • Androgens
  • Child
  • Humans
  • Hypertension* / etiology
  • Hypothyroidism* / complications
  • Hypothyroidism* / diagnosis
  • Male
  • Mutation
  • Steroid 11-beta-Hydroxylase / genetics

Substances

  • Steroid 11-beta-Hydroxylase
  • Androgens