Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency

Last update 08 May 2025

Basic Info

Synonyms

11 Beta Hydroxylase Deficiency, 11 beta-hydroxylase deficiency, 11-BETA-HYDROXYLASE DEFICIENCY

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Introduction

Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension.

100 Clinical Results associated with Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency

100 Translational Medicine associated with Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency

0 Patents (Medical) associated with Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency

446

Literatures (Medical) associated with Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency

01 Apr 2025·Endocrinology, Diabetes & Metabolism Case Reports

Precocious puberty in male with hypertension and hypokalemia; a definite diagnostic clue for 11β hydroxylase deficiency CAH

Article

Author: Pande, Minal ; Darshini S, Dhivya ; Patra, Shinjan ; Katam, Kishore K

Summary11β-hydroxylase deficiency (11βOHD) (5–7%) is an uncommon cause of congenital adrenal hyperplasia compared to 21-hydroxylase deficiency (21OHD) (90%). We report a case of a 5-year-old boy who presented with gonadotropin-independent precocious puberty along with hypertension, generalized hyperpigmentation and hypokalemia. 17-hydroxyprogesterone came raised along with low stimulated cortisol. With the unavailability of urinary steroid profiling and serum 11-β deoxycortisol levels, we went ahead with molecular analysis of the patient. It confirmed exon deletion (1–6) of CYP11B1 and exon deletion (8–9) of the CYP11B2 gene, and the diagnosis of 11βOHD was substantiated. The patient was started on oral hydrocortisone tablet and responded promptly regarding blood pressure normalization and hypokalemia resolution. This case highlights the importance of discriminatory features of hypertension and hypokalemia, which can effectively differentiate from 21OHD to 11βOHD clinically. In addition, we have reported a comparatively rare genetic finding of 1–6 exon deletion in the CYP11B1 gene.Learning points

CYP11B1 OHD should be considered one of the primary differentials for boys presenting with precocious puberty and hypertension.

11βOHD can cause childhood-onset salt-wasting episodes and, later, significant hypertension with precocious puberty.

Increased 17-hydroxyprogesterone can be found in both 21OHD and 11 βOHD cases; significant hypertension and hypokalemia are discriminatory clinical findings besides renin, aldosterone assay and molecular analysis.

Prompt initiation of glucocorticoids, the mainstay of the treatment of 11βOHD, retards pubertal progression and normalizes blood pressure. Additional antihypertensives can be used in refractory cases.

01 Feb 2025·Zhonghua nei ke za zhi

[A case of 11β-hydroxylase deficiency complicated with bilateral adrenal myelolipoma].

Article

Author: Li, Z Y ; Li, D M ; Gao, X M ; Zhang, H J ; Huang, F J ; Lin, M ; Zhou, Z Z

01 Feb 2025·Anales de Pediatría (English Edition)

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes

Article

Author: Pérez, Víctor ; Clemente, María ; Yeste, Diego ; Mercado Santis, Elida ; Campos, Ariadna ; Oriola, Josep ; Fernández, Paula

INTRODUCTION11β-hydroxylase (11β-OH) deficiency is the second most frequent cause of classic congenital adrenal hyperplasia (CAH) (5%-8% of cases). Clinically, it is characterized by virilization and arterial hypertension. The objective of this study was to describe the clinical, biochemical and genetic characteristics classic 11β-OH deficiency in patients managed in our hospital and its outcomes.PATIENTS AND METHODSRetrospective longitudinal, observational and descriptive study.INCLUSION CRITERIAPatients with clinical features of virilization, high levels of 11-deoxycortisol and study of CYP11B1 gene with detection of pathogenic and likely pathogenic variants.RESULTSWe identified 6 patients (1 male, 5 female) from 4 families. In the 4 index cases, the median age at diagnosis was 2.3 years. The 46,XX patients exhibited a variable degree of virilization at diagnosis, with a predominance of Prader stage V, and one case of male sex assignment at birth. All patients had elevated serum concentrations of 17-hydroxyprogesterone and testosterone. Fifty percent of the patients had developed arterial hypertension during the follow-up, with onset at a median age of 9.3 years. Three 46,XX patients reached a median final height of 154 cm. Six different variants of theCYP11B1 gene were identified, 5 of which were novel variants (c.595 G > A, c.710 T > C, c.1156delG, c.395 + 2dupT, c.1159dupA).CONCLUSIONSThere is considerable heterogeneity in the clinical presentation of patients with CAH due to 11β-OH deficiency. Early diagnosis and treatment are important to prevent complications and improve long-term outcomes. We report 6 different variants of the CYP11B1 gene, including 5 novel variants.

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Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency

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