title: 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.affiliation: Department of Endocrinology, Royal Darwin Hospital, Darwin, NT, Australia. krupalibulsari@gmail.com.
authors.forename: Krupali
authors.initials: K
authors.lastname: Bulsari
authors.affiliation: 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.
authors.forename: Henrik
authors.initials: H
authors.lastname: Falhammar
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D000818:Animals; D042241:Early Diagnosis; D005938:Glucocorticoids / Q000009:adverse effects / Q000627:therapeutic use; D020249:Hormone Replacement Therapy / Q000009:adverse effects; D006801:Humans; D006854:Hydrocortisone / Q000009:adverse effects / Q000627:therapeutic use; D006973:Hypertension / Q000209:etiology / Q000517:prevention & control; D009154:Mutation; D017410:Practice Guidelines as Topic; D011629:Puberty, Precocious / Q000209:etiology / Q000517:prevention & control; D012720:Severity of Illness Index; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics / Q000378:metabolism
chemical_list: D005938:Glucocorticoids; D013252:Steroid 11-beta-Hydroxylase; D006854:Hydrocortisone
keywords: CYP11B1; Complications; Diagnosis; Management