Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Abstract

Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens. More than 100 mutations in CYP11B1 gene have been reported to date. The level of in-vivo activity of CYP11B1 relates to the degree of severity of 11 beta-hydroxylase deficiency. Clinical management of 11 beta-hydroxylase deficiency can pose a challenge to maintain adequate glucocorticoid dosing to suppress adrenal androgen excess while avoiding glucocorticoid-induced side effects. The long-term outcomes of clinical and surgical management are not well studied. This review article aims to collate the current available data about 11 beta-hydroxylase deficiency and its management.

• Authors: Krupali Bulsari, Henrik Falhammar
• Journal: Endocrine (Endocrine) Vol. 55 Issue 1 Pg. 19-36 (Jan 2017) ISSN: 1559-0100 [Electronic] United States
• PMID: 27928728 (Publication Type: Journal Article, Review)

Chemical References

• Glucocorticoids
• Steroid 11-beta-Hydroxylase
• Hydrocortisone

Topics

• Adrenal Hyperplasia, Congenital (diagnosis, drug therapy, genetics, physiopathology)
• Animals
• Early Diagnosis
• Glucocorticoids (adverse effects, therapeutic use)
• Hormone Replacement Therapy (adverse effects)
• Humans
• Hydrocortisone (adverse effects, therapeutic use)
• Hypertension (etiology, prevention & control)
• Mutation
• Practice Guidelines as Topic
• Puberty, Precocious (etiology, prevention & control)
• Severity of Illness Index
• Steroid 11-beta-Hydroxylase (genetics, metabolism)