Adrenal Hyperplasia, Congenital, due to 11-Beta-Hydroxylase Deficiency

Alternative Names

Adrenal Hyperplasia IV
Steroid 11-Beta-Hydroxylase Deficiency
11-Beta-Hydroxylase Deficiency
Adrenal Hyperplasia, Hypertensive Form
P450C11B1 Deficiency

Associated Genes

Cytochrome P450, Subfamily XIB, Polypeptide 1

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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

OMIM Number

202010

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8q24.3

Description

Congenital adrenal hyperplasia (CAH) is a family of inherited disorders of steroidogenesis in which enzymatic defects result in impaired synthesis of cortisol by the adrenal cortex. One of the enzymes involved in this metabolic pathway is 11-beta hydroxylase, and CAH due to deficiency of this enzyme is characterized by the overproduction of adrenal androgens and deoxycorticosterone, leading to virilization of the female fetus, pseudoprecocious puberty in male infants, and hypertension with or without hypokalemia in both genders.

Epidemiology in the Arab World

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Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
202010.1.1	Lebanon	Female	Yes	Yes	Clitoral hypertrophy ; Abnormal labia m... Clitoral hypertrophy ; Abnormal labia morphology ; Elevated serum 11-deoxycortisol ; Elevated circulating 17-hydroxyprogesterone; Increased serum testosterone level; Hypertension	NM_000497.3:c.1210dup	Homozygous	Autosomal, Recessive	Soardi et al, 2009	Proband
202010.2.01	Morocco	Male	No	No	Abnormal external genitalia ; Hyperten... Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level	NM_000497.3:c.1343G>A	Homozygous	Autosomal, Recessive	White et al. 1991
202010.2.02	Morocco	Male	No	No	Abnormal external genitalia ; Hyperte... Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level	NM_000497.3:c.1343G>A	Homozygous	Autosomal, Recessive	White et al. 1991
202010.2.03	Morocco	Male	No	No	Abnormal external genitalia ; Hyperten... Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol;	NM_000497.3:c.1343G>A	Homozygous	Autosomal, Recessive	White et al. 1991
202010.2.04	Morocco	Female	No	No	Abnormal external genitalia ; Hyperten... Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level	NM_000497.3:c.1343G>A	Homozygous	Autosomal, Recessive	White et al. 1991
202010.2.05	Morocco	Female	No	Yes	Abnormal external genitalia ; Hyperte... Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level	NM_000497.3:c.1343G>A	Homozygous	Autosomal, Recessive	White et al. 1991
202010.2.06	Morocco	Male	No	No	Abnormal external genitalia ; Hypert... Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level	NM_000497.3:c.1343G>A	Homozygous	Autosomal, Recessive	White et al. 1991
202010.2.07	Morocco	Male	No	No	Abnormal external genitalia ; Elevated... Abnormal external genitalia ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level	NM_000497.3:c.1343G>A	Homozygous	Autosomal, Recessive	White et al. 1991
202010.2.08	Morocco	Male	No	No	Elevated serum 11-deoxycortisol; Incre... Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ;	NM_000497.3:c.1343G>A	Homozygous	Autosomal, Recessive	White et al. 1991
202010.2.09	Morocco	Female	No	No	Abnormal external genitalia ; Elevated... Abnormal external genitalia ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ;	NM_000497.3:c.1343G>A	Homozygous	Autosomal, Recessive	White et al. 1991
202010.2.10	Morocco	Male	No	No	Hypertension ; Elevated serum 11-deoxyc... Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ;	NM_000497.3:c.1343G>A	Homozygous	Autosomal, Recessive	White et al. 1991
202010.2.11	Morocco	Female	No	No	Abnormal external genitalia ; Hyperten... Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level	NM_000497.3:c.1343G>A	Homozygous	Autosomal, Recessive	White et al. 1991

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Other Reports

Jordan

Al-Maghribi (2007) studied 73 Jordanian children with CAH, of whom seven patients were thought to have 11-beta hydroxylase deficiency.

Morocco

Rosler et al. (1982) reported 26 patients with CAH due to 11-beta-hydroxylase deficiency in 18 Jewish families from Morocco, Tunisia, Turkey, and Iran

Hochberg et al. (1985) described the characteristics of 15 affected girls and nine affected boys, all Jewish individuals of Moroccan and Iranian extraction.

Rosler et al. (1992) reviewed the characteristics of 38 persons with 11-beta-hydroxylase deficiency from 25 families over a 39-year period; 19 families came from Morocco, and in another two of the families one parent came from Morocco.

Saudi Arabia

Al-Jurayyan (1995) reported that 78 Saudi children with CAH were seen at a hospital in Riyadh over a 10-year period. Of these, 20 (26%) patients from 11 families had 11-beta-hydroxylase deficiency.

Bin-Abbas et al. (2006) described two siblings with 11-hydroxylase deficiency.

Tunisia

[See: Morocco > Rosler et al., 1982].

External Links

http://emedicine.medscape.com/article/117012-overview http://ghr.nlm.nih.gov/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90795

Contributors

Sayeeda Hana: 20.06.2019
Pratibha Nair: 25.01.2015
Ghazi O. Tadmouri: 09.11.2014
Pratibha Nair: 03.11.2014
Abdul R Hamzeh: 03.11.2014

Edit History

Sayeeda Hana: 03.03.2021
Sayeeda Hana: 20.06.2019
Pratibha Nair: 01.02.2015
Pratibha Nair: 13.11.2014
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004
Ghazi O. Tadmouri: 23.08.2004
Ghazi O. Tadmouri: 28.02.2004