Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency

Alternative Names

  • Adrenal Hyperplasia III
  • 21-@Hydroxylase Deficiency
  • CYP21 Deficiency
  • Congenital Adrenal Hyperplasia 1
  • CAH1
  • Cytochrome P450, Subfamily XXIA, Polypeptide 2
  • CYP21A2
  • Cytochrome P450, Subfamily XXI
  • CYP21
  • Steroid Cytochrome P450 21-Hydroxylase
  • P450c21
  • 21-@Hydroxylase B, Included
  • CYP21B
  • CA21H
  • Cytochrome P450, Subfamily XXIA, Polypeptide 1 Pseudogene
  • CYP21A1P
  • CYP21P
  • CYP21A
  • Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency
Back to search Result
WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

OMIM Number

201910

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6p21.33

Description

Congenital adrenal hyperplasia (CAH) is a genetic disorder resulting from total or partial deficiency of an enzyme involved in cortisol and aldsosterone biosynthesis. In 95% of the cases of CAH, this enzyme is the 21-hydroxylase, which is responsible for the conversion of 17-hydroxyprogesterone to 11-deoxycorticsol. The deficiency of this enzyme leads not only to loss of cortisol synthesis, but also to the accumulation of cortisol precursors, and increase in ACTH, and consequently, androgen levels. 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
201910.1.1EgyptFemaleYesYes Ambiguous genitalia; Congenital adrenal... NM_001128590.3:c.428T>AHomozygousAutosomal, RecessiveGad, 2002
201910.2.1EgyptMaleYes Congenital adrenal hyperplasia; Renal s... NM_001128590.3:c.428T>AHomozygousAutosomal, RecessiveGad, 2002
201910.17LebanonFemaleNo Congenital adrenal hyperplasia; Rena... NM_001128590.3:c.203-13C>G, NM_001128590.3:c.242_249delGAGACTACHeterozygousAutosomal, RecessiveDelague et al, 2000 Compound heterozygot...
201910.18LebanonFemaleYes Congenital adrenal hyperplasia; Ren... NM_001128590.3:c.203-13C>GHomozygousAutosomal, RecessiveDelague et al, 2000
201910.19.1LebanonMaleYesYes Congenital adrenal hyperplasia; Re... NM_001128590.3:c.203-13C>GHomozygousAutosomal, RecessiveDelague et al, 2000
201910.19.2LebanonFemaleYesYes Congenital adrenal hyperplasia; R... NM_001128590.3:c.203-13C>GHomozygousAutosomal, RecessiveDelague et al, 2000 Sister of 201910.19....
201910.20.1LebanonFemaleYesYes Congenital adrenal hyperplasia; ... NM_001128590.3:c.203-13C>G, NM_001128590.3:c.754G>THeterozygous, HomozygousAutosomal, RecessiveDelague et al, 2000
201910.20.2LebanonMaleYesYes Congenital adrenal hyperplasia; ... NM_001128590.3:c.203-13C>G, NM_001128590.3:c.754G>THeterozygous, HomozygousAutosomal, RecessiveDelague et al, 2000 Brother of 201910.20...
201910.21LebanonFemaleNo Congenital adrenal hyperplasia; ... NM_001128590.3:c.428T>A, NM_001128590.3:c.865C>T, NM_001128590.3:c.629T>A, NM_001128590.3:c.620T>A, NM_001128590.3:c.623T>AHeterozygousAutosomal, RecessiveDelague et al, 2000 Carries the CL6 hapl...
201910.22.1LebanonMaleYesYes Congenital adrenal hyperplasia; Re... NM_001128590.3:c.242_249delGAGACTACHomozygousAutosomal, RecessiveDelague et al, 2000
201910.22.2LebanonFemaleYesYes Congenital adrenal hyperplasia; R... NM_001128590.3:c.242_249delGAGACTACHomozygousAutosomal, RecessiveDelague et al, 2000 Sister of 201910.22....
201910.23.1LebanonFemaleYesYes Congenital adrenal hyperplasia; ... NM_001128590.3:c.203-13C>G, NM_001128590.3:c.754G>THomozygousAutosomal, RecessiveDelague et al, 2000
201910.23.2LebanonFemaleYesYes Congenital adrenal hyperplasia; ... NM_001128590.3:c.203-13C>G, NM_001128590.3:c.754G>THomozygousAutosomal, RecessiveDelague et al, 2000 Sister of 201910.23....
201910.23.3LebanonFemaleYesYes Congenital adrenal hyperplasia; ... NM_001128590.3:c.203-13C>G, NM_001128590.3:c.754G>THomozygousAutosomal, RecessiveDelague et al, 2000 Sister of 201910.23....
201910.24LebanonFemaleNo Congenital adrenal hyperplasia; ... NM_001128590.3:c.203-13C>GHomozygousAutosomal, RecessiveDelague et al, 2000
201910.25LebanonMale Congenital adrenal hyperplasia; ... NM_001128590.3:c.428T>A, NM_001128590.3:c.629T>A, NM_001128590.3:c.620T>A, NM_001128590.3:c.623T>AHomozygousAutosomal, RecessiveDelague et al, 2000 Carries the CL6 hapl...
201910.26LebanonMaleNo Congenital adrenal hyperplasia; Renal s... NM_001128590.3:c.203-13C>GHeterozygousAutosomal, RecessiveDelague et al, 2000 Compound heterozygou...
201910.27LebanonMaleNo Congenital adrenal hyperplasia; Renal ... NM_001128590.3:c.203-13C>GHomozygousAutosomal, RecessiveDelague et al, 2000
201910.28.1LebanonFemaleYesYes Congenital adrenal hyperplasia; Ambiguo... NM_001128590.3:c.203-13C>GHomozygousAutosomal, RecessiveDelague et al, 2000
201910.28.2LebanonMaleYesYes Congenital adrenal hyperplasia; ... NM_001128590.3:c.203-13C>GHomozygousAutosomal, RecessiveDelague et al, 2000 Sibling of 201910.28...
201910.29LebanonFemaleNo Congenital adrenal hyperplasia; ; Ambig... NM_001128590.3:c.428T>AHeterozygousAutosomal, RecessiveDelague et al, 2000 Compound heterozygou...
201910.30LebanonFemaleNo Congenital adrenal hyperplasia; Ambiguo... NM_001128590.3:c.428T>A, NM_001128590.3:c.629T>A, NM_001128590.3:c.620T>A, NM_001128590.3:c.623T>AHeterozygous, HomozygousAutosomal, RecessiveDelague et al, 2000 Carries the CL6 hapl...
201910.31.1LebanonFemaleYesNo Congenital adrenal hyperplasia; Ambiguo... NM_001128590.3:c.242_249delGAGACTACHeterozygousAutosomal, RecessiveDelague et al, 2000
201910.31.2LebanonFemaleYesNo Congenital adrenal hyperplasia; Ambigu... NM_001128590.3:c.242_249delGAGACTACHeterozygousAutosomal, RecessiveDelague et al, 2000 Sibling of 201910.31...
201910.32LebanonMaleNo Congenital adrenal hyperplasia; ; ; ... NM_001128590.3:c.754G>THomozygousAutosomal, RecessiveDelague et al, 2000
201910.33LebanonFemale Congenital adrenal hyperplasia; ; ... NM_001128590.3:c.754G>THeterozygousAutosomal, RecessiveDelague et al, 2000 Compound heterozygot...
201910.34LebanonMaleNo Congenital adrenal hyperplasia; ; ... NM_001128590.3:c.754G>THomozygousAutosomal, RecessiveDelague et al, 2000
201910.35.3LebanonFemaleYes Congenital adrenal hyperplasia; ;... NM_001128590.3:c.754G>THomozygousAutosomal, RecessiveDelague et al, 2000
201910.36LebanonFemaleNo Congenital adrenal hyperplasia; ... NM_001128590.3:c.754G>THomozygousAutosomal, RecessiveDelague et al, 2000
201910.37LebanonFemaleNo Congenital adrenal hyperplasia; ... NM_001128590.3:c.754G>THomozygousAutosomal, RecessiveDelague et al, 2000
201910.38LebanonFemaleNo Congenital adrenal hyperplasia; ... NM_001128590.3:c.754G>THomozygousAutosomal, RecessiveDelague et al, 2000
201910.15.1LebanonFemaleYesYes Congenital adrenal hyperplasia; Renal s... NM_001128590.3:c.865C>THomozygousAutosomal, RecessiveDelague et al, 2000
201910.15.2LebanonMaleYesYes Congenital adrenal hyperplasia; Renal... NM_001128590.3:c.865C>THomozygousAutosomal, RecessiveDelague et al, 2000 Sibling of 201910.15...
201910.16PalestineFemaleNoYes Congenital adrenal hyperplasia; Rena... NM_001128590.3:c.865C>T, NM_001128590.3:c.203-13C>GHeterozygousAutosomal, RecessiveDelague et al, 2000 Compound heterozygot...
201910.G.1TunisiaFemaleYes Congenital adrenal hyperplasia; Renal ... NM_001128590.3:c.865C>THomozygousAutosomal, RecessiveKharrat et al. 2004 7 unrelated patients
201910.G.2TunisiaMaleYes Congenital adrenal hyperplasia; Renal... NM_001128590.3:c.865C>THomozygousAutosomal, RecessiveKharrat et al. 2004 3 unrelated patients
201910.G.3TunisiaFemaleNo Congenital adrenal hyperplasia; Renal... NM_001128590.3:c.865C>THomozygousAutosomal, RecessiveKharrat et al. 2004 3 unrelated patients
201910.3TunisiaFemaleNo Congenital adrenal hyperplasia; Renal... NM_001128590.3:c.865C>T, NM_001128590.3:c.203-13C>GHeterozygousAutosomal, RecessiveKharrat et al. 2004 Compound heterozygot...
201910.4TunisiaFemaleNo Congenital adrenal hyperplasia; Renal s... NM_001128590.3:c.865C>T, NM_001128590.3:c.979C>THeterozygousAutosomal, RecessiveKharrat et al. 2004 Compound heterozygot...
201910.5TunisiaFemaleNo Congenital adrenal hyperplasia; Renal ... NM_001128590.3:c.865C>T, NM_001128590.3:c.203-13C>G, NM_001128590.3:c.92C>THeterozygousAutosomal, RecessiveKharrat et al. 2004 Compound heterozygot...
201910.6TunisiaFemaleNo Congenital adrenal hyperplasia; Renal ... NM_001128590.3:c.865C>THeterozygousAutosomal, RecessiveKharrat et al. 2004 Compound heterozygot...
201910.7TunisiaFemaleNo Congenital adrenal hyperplasia; Renal... NM_001128590.3:c.203-13C>GHeterozygousAutosomal, RecessiveKharrat et al. 2004 Compound heterozygot...
201910.G.4TunisiaFemaleYes Congenital adrenal hyperplasia; Renal... NM_001128590.3:c.203-13C>GHomozygousAutosomal, RecessiveKharrat et al. 2004 5 unrelated patients...
201910.G.5TunisiaMaleYes Congenital adrenal hyperplasia; Rena... NM_001128590.3:c.203-13C>GHomozygousAutosomal, RecessiveKharrat et al. 2004 2 unrelated patients...
201910.8TunisiaFemaleYes Congenital adrenal hyperplasia; Renal ... NM_001128590.3:c.979C>THomozygousAutosomal, RecessiveKharrat et al. 2004
201910.9TunisiaMaleYes Congenital adrenal hyperplasia; Rena... NM_001128590.3:c.865C>T, NM_001128590.3:c.203-13C>GHomozygousAutosomal, RecessiveKharrat et al. 2004
201910.10TunisiaFemaleYes Congenital adrenal hyperplasia; Renal... NM_032470.3:c.*253G>AHomozygousAutosomal, RecessiveKharrat et al. 2004
201910.11TunisiaFemaleNo Congenital adrenal hyperplasia; Renal... NM_001128590.3:c.865C>THeterozygousAutosomal, RecessiveKharrat et al. 2004 Compound heterozygou...
201910.G.6TunisiaFemale Congenital adrenal hyperplasia; Ren... NM_001128590.3:c.865C>THeterozygousAutosomal, RecessiveKharrat et al. 2004 3 unrelated patients...
201910.12TunisiaFemaleNo Congenital adrenal hyperplasia; Ren... NM_001128590.3:c.59G>AHeterozygousAutosomal, RecessiveKharrat et al. 2004 Compound heterozygou...
201910.G.7TunisiaFemaleYes Congenital adrenal hyperplasia; R... NM_001128590.3:c.428T>AHeterozygousAutosomal, RecessiveKharrat et al. 2004 5 unrelated patients
201910.13TunisiaFemaleNo Congenital adrenal hyperplasia; Rena... NM_001128590.3:c.865C>T, NM_001128590.3:c.203-13C>GHeterozygousAutosomal, RecessiveKharrat et al. 2004 Compound heterozygot...
201910.14TunisiaFemale Congenital adrenal hyperplasia; Ren... NM_001128590.3:c.428T>A, NM_001128590.3:c.865C>THeterozygousAutosomal, RecessiveKharrat et al. 2004 Compound heterozygot...

Other Reports

Jordan

Al-Maghribi (2007) conducted a retrospective study on patients with congenital adrenal hyperplasia (CAH) over a period of 10 years (1996-2006) at the King Hussein Medical Center (KHMC) in Amman. The study included 73 Jordanian children (39 females and 34 males) with CAH. 

Kuwait

Lubani et al. (1990) found 60 children with CAH diagnosed between 1978 and 1988, giving an estimated prevalence of 1 in 9,000 live births. In addition, there was presumptive evidence of CAH resulting in the death of 20 other children, giving a prevalence figure of 1 in 7,000. In 54 patients (90%), 21-hydroxylase deficiency was diagnosed.

Oman

Rajab et al. (2005) undertook a study to estimate the prevalence of commonly diagnosed autosomal recessive diseases in Oman from a hospital-based register in years 1993 to 2002. The study revealed that congenital adrenal hyperplasia was diagnosed in 55 patients, with an observed incidence of 1 in 10,000 births. 

Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in Nizwa Hospital. Of the 21,988 total births in the hospital, four children were born with congenital adrenal hyperplasia (21 OH deficiency). 

Qatar

Lindner et al. (2007) investigated 25,214 neonates born in Qatar for inborn errors of metabolism and endocrine disorders. One neonate was diagnosed with congenital adrenal hyperplasia.

Saudi Arabia

Al-Jurayyan (2011) conducted a retrospective study in the pediatric endocrine clinic at a university hospital Saudi Arabia during the period 1989-2008. Medical records of 81 children with ambiguous genitalia were reviewed. Fifty three (65%) of the patients were genetically females (46XX), with congenital adrenal hyperplasia being the common cause in 51 (97%) patients. 

United Arab Emirates

In a study on 102 women of Arab and Asian origins with hirsutism, Gatee et al. (1996) identified late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency in two cases. 

© CAGS 2021. All rights reserved.