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Deficiency of steroid 11-beta-monooxygenase(CYP11B1)

MedGen UID:
82783
Concept ID:
C0268292
Disease or Syndrome
Synonyms: 11-alpha beta-hydroxylase deficiency; 11-beta-hydroxylase deficiency; 11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Adrenal hyperplasia 4; Adrenal hyperplasia hypertensive form; Adrenal hyperplasia IV; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; CYP11B1; P450c11b1 deficiency; Steroid 11-beta-hydroxylase deficiency
SNOMED CT: Deficiency of steroid 11-beta-hydroxylase (124214007); Deficiency of steroid 11-beta-monooxygenase (124214007); Steroid 11-beta-monooxygenase deficiency (124214007); Hypertensive congenital adrenal hyperplasia (124214007); 11-beta-hydroxylase deficiency (124214007); Adrenogenital disorder due to 11-beta-hydroxylase deficiency (124214007); CAH - 11 beta-hydroxylase deficiency (124214007); Congenital adrenal hyperplasia, type 3 (124214007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CYP11B1 (8q24.3)
 
Monarch Initiative: MONDO:0008729
OMIM®: 202010
Orphanet: ORPHA90795

Definition

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991). CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991). [from OMIM]

Additional description

From MedlinePlus Genetics
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.

There are two types of CAH due to 11-beta-hydroxylase deficiency, the classic form and the non-classic form. The classic form is the more severe of the two types.

Females with the classic form of CAH due to 11-beta-hydroxylase deficiency have external genitalia that do not look clearly male or female (atypical genitalia). However, the internal reproductive organs develop normally. Males and females with the classic form of this condition have early development of their secondary sexual characteristics such as growth of facial and pubic hair, deepening of the voice, appearance of acne, and onset of a growth spurt. The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. In addition, approximately two-thirds of individuals with the classic form of CAH due to 11-beta-hydroxylase deficiency have high blood pressure (hypertension). Hypertension typically develops within the first year of life.

Females with the non-classic form of CAH due to 11-beta-hydroxylase deficiency have normal female genitalia. As affected females get older, they may develop excessive body hair growth (hirsutism) and irregular menstruation. Males with the non-classic form of this condition do not typically have any signs or symptoms except for short stature. Hypertension is not a feature of the non-classic form of CAH due to 11-beta-hydroxylase deficiency.  https://medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency

Clinical features

From HPO
Clitoral hypertrophy
MedGen UID:
57848
Concept ID:
C0156394
Finding
Hypertrophy of the clitoris.
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
Uterine hypoplasia
MedGen UID:
120575
Concept ID:
C0266399
Congenital Abnormality
Underdevelopment of the uterus.
Long penis
MedGen UID:
82837
Concept ID:
C0269011
Finding
Penile length more than 2 SD above the mean for age.
Hypoplasia of the vagina
MedGen UID:
91040
Concept ID:
C0345309
Congenital Abnormality
Developmental hypoplasia of the vagina.
Ambiguous genitalia, female
MedGen UID:
892752
Concept ID:
C4025891
Congenital Abnormality
Ambiguous genitalia in an individual with XX genetic gender.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Accelerated skeletal maturation
MedGen UID:
154262
Concept ID:
C0545053
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Congenital adrenal hyperplasia
MedGen UID:
7900
Concept ID:
C0001627
Disease or Syndrome
A type of adrenal hyperplasia with congenital onset.
Increased circulating androstenedione concentration
MedGen UID:
1386637
Concept ID:
C0240995
Finding
Increased concentration of androstenedione in the blood circulation.
Adrenogenital syndrome
MedGen UID:
86215
Concept ID:
C0302280
Disease or Syndrome
Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.
Decreased circulating aldosterone level
MedGen UID:
208996
Concept ID:
C0857899
Finding
Abnormally reduced levels of aldosterone.
Decreased circulating renin level
MedGen UID:
337182
Concept ID:
C1845206
Finding
An decreased level of renin in the blood.
Precocious puberty in males
MedGen UID:
347989
Concept ID:
C1859979
Finding
The onset of puberty before the age of 9 years in boys.
Increased serum testosterone level
MedGen UID:
892551
Concept ID:
C4072885
Finding
An elevated circulating testosterone level in the blood.
Elevated serum 11-deoxycortisol
MedGen UID:
1387192
Concept ID:
C4476775
Finding
Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.

Term Hierarchy

Follow this link to review classifications for Deficiency of steroid 11-beta-monooxygenase in Orphanet.

Professional guidelines

PubMed

Aycan Z, Keskin M, Lafcı NG, Savaş-Erdeve Ş, Baş F, Poyrazoğlu Ş, Öztürk P, Parlak M, Ercan O, Güran T, Hatipoğlu N, Uçaktürk SA, Çatlı G, Akyürek N, Önder A, Kılınç S, Çetinkaya S
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Eur J Med Genet 2021 Dec;64(12):104369. Epub 2021 Oct 27 doi: 10.1016/j.ejmg.2021.104369. PMID: 34718183
Ahmed SF, Rodie M
Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):197-218. doi: 10.1016/j.beem.2009.12.001. PMID: 20541148

Recent clinical studies

Etiology

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Clin Endocrinol (Oxf) 2021 Apr;94(4):533-543. Epub 2020 Dec 4 doi: 10.1111/cen.14376. PMID: 33275286
Alswailem M, Alsagheir A, Abbas BB, Alzahrani O, Alzahrani AS
J Steroid Biochem Mol Biol 2021 Apr;208:105736. Epub 2020 Aug 9 doi: 10.1016/j.jsbmb.2020.105736. PMID: 32784047
Kandemir N, Yilmaz DY, Gonc EN, Ozon A, Alikasifoglu A, Dursun A, Ozgul RK
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Diagnosis

Xie H, Yin H, Ye X, Liu Y, Liu N, Zhang Y, Chen X, Chen X
Front Endocrinol (Lausanne) 2022;13:882863. Epub 2022 May 24 doi: 10.3389/fendo.2022.882863. PMID: 35685215Free PMC Article
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Endocrine 2017 Jan;55(1):19-36. Epub 2016 Dec 7 doi: 10.1007/s12020-016-1189-x. PMID: 27928728
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Best Pract Res Clin Endocrinol Metab 2009 Apr;23(2):181-92. doi: 10.1016/j.beem.2008.10.014. PMID: 19500762Free PMC Article

Therapy

Elfekih H, Abdelkrim AB, Marzouk H, Saad G, Gribaa M, Hasni Y, Maaroufi A
Pan Afr Med J 2020;36:226. Epub 2020 Jul 28 doi: 10.11604/pamj.2020.36.226.24270. PMID: 33708317Free PMC Article
Bulsari K, Falhammar H
Endocrine 2017 Jan;55(1):19-36. Epub 2016 Dec 7 doi: 10.1007/s12020-016-1189-x. PMID: 27928728
Nimkarn S, New MI
Trends Endocrinol Metab 2008 Apr;19(3):96-9. Epub 2008 Feb 21 doi: 10.1016/j.tem.2008.01.002. PMID: 18294861
Hakki T, Bernhardt R
Pharmacol Ther 2006 Jul;111(1):27-52. Epub 2006 Jan 19 doi: 10.1016/j.pharmthera.2005.07.006. PMID: 16426683
White PC
Endocrinol Metab Clin North Am 2001 Mar;30(1):61-79, vi. doi: 10.1016/s0889-8529(08)70019-7. PMID: 11344939

Prognosis

Sun B, Lu L, Gao Y, Yu B, Chen S, Tong A, Wu X, Mao J, Wang X, Zhao Z, Zhang W, Nie M
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Karlekar MP, Sarathi V, Lila A, Rai K, Arya S, Bhandare VV, Atluri S, Patil V, Ramteke-Jadhav S, Shah NS, Kunwar A, Bandgar T
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Elfekih H, Abdelkrim AB, Marzouk H, Saad G, Gribaa M, Hasni Y, Maaroufi A
Pan Afr Med J 2020;36:226. Epub 2020 Jul 28 doi: 10.11604/pamj.2020.36.226.24270. PMID: 33708317Free PMC Article
Khattab A, Haider S, Kumar A, Dhawan S, Alam D, Romero R, Burns J, Li D, Estatico J, Rahi S, Fatima S, Alzahrani A, Hafez M, Musa N, Razzghy Azar M, Khaloul N, Gribaa M, Saad A, Charfeddine IB, Bilharinho de Mendonça B, Belgorosky A, Dumic K, Dumic M, Aisenberg J, Kandemir N, Alikasifoglu A, Ozon A, Gonc N, Cheng T, Kuhnle-Krahl U, Cappa M, Holterhus PM, Nour MA, Pacaud D, Holtzman A, Li S, Zaidi M, Yuen T, New MI
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Müller J
Steroids 1995 Jan;60(1):2-9. doi: 10.1016/0039-128x(94)00021-4. PMID: 7792810

Clinical prediction guides

Pignatti E, Kollar J, Hafele E, Schuster D, Steele RE, Vogt B, Schumacher C, Groessl M
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Yildiz M, Isik E, Abali ZY, Keskin M, Ozbek MN, Bas F, Ucakturk SA, Buyukinan M, Onal H, Kara C, Storbeck KH, Darendeliler F, Cayir A, Unal E, Anik A, Demirbilek H, Cetin T, Dursun F, Catli G, Turan S, Falhammar H, Baris T, Yaman A, Haklar G, Bereket A, Guran T
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