Bulsari, Krupali

Falhammar, Henrik

2017-01

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.

Department of Endocrinology, Royal Darwin Hospital, Darwin, NT, Australia. krupalibulsari@gmail.com..

Department of Endocrinology, Royal Darwin Hospital, Darwin, NT, Australia.. Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.. Menzies School of Health Research, Darwin, NT, Australia..

Endocrine 2017-01; 55(1): 19-36

https://pubmed.ncbi.nlm.nih.gov/27928728/?otool=iaurydwlib

https://hdl.handle.net/10137/5302

CYP11B1

Complications

Diagnosis

Management

Adrenal Hyperplasia, Congenital

Animals

Early Diagnosis

Glucocorticoids

Hormone Replacement Therapy

Humans

Hydrocortisone

Hypertension

Mutation

Practice Guidelines as Topic

Puberty, Precocious

Severity of Illness Index

Steroid 11-beta-Hydroxylase

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

Journal Article

Review

Publication