MCID: CLS040
MIFTS: 37

Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

MalaCards integrated aliases for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency:

Name: Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 53
Classic 21-Ohd Cah 53

Classifications:



Summaries for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 90794Disease definitionClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.EpidemiologyThe prevalence is about 1/14,000.Clinical descriptionClassic 21-OHD CAH can be divided into 2 clinical groups: simple-virilizing or salt wasting (see these terms). Clinical signs of classic 21-OHD CAH are observed prenatally or at birth. Girls present with ambiguous genitalia (clitoromegaly, partially fused labia majora with rugae, common urogenital sinus) and the extent of virilization can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. Salt wasting forms of CAH lead to symptoms of dehydration and hypotension in the first few weeks of life due to aldosterone deficiency. They can develop failure to thrive, hyponatremia, hyperkalemia, acidosis and hypoglycemia which can be life threatening if not treated immediately. Hyperandrogenia manifests with accelerated growth velocity and accelerated skeletal maturation (leading to short stature in adulthood), advanced bone age, premature pubarche and precocious puberty during childhood, acne and hirsutism, menstrual problems, subfertility, and metabolic disturbances and obesity during adulthood.EtiologyThe disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3 which controls cortisol and aldosterone production.Diagnostic methodsDiagnosis of girls with classic 21-OHD CAH is usually at birth when ambiguous genitalia are present. Fetuses can be diagnosed for CAH prenatally by measuring 17-hydroxy-progesterone (17-OHP) levels found in amniotic fluid. National systematic screening programs in most European countries diagnose cases of CAH at birth.Differential diagnosisDifferential diagnoses include other forms of CAH, polycystic ovary syndrome (PCOS, see these terms) or any diseases with androgen excess.Antenatal diagnosisPrenatal testing is available by either chorionic villus sampling (CVS) during the 10th -12th week of gestation or by amniocentesis during the 15th -18th week by measuring the enzyme activity of 17-OHP.Genetic counselingAs classic 21-OHD CAH follows an autosomal recessive pattern of inheritance, genetic counseling is possible.Management and treatmentPrenatal treatment with dexamethasone can be administered to female fetuses at risk of developing classic CAH. When administered before the 9th week of gestation, it prevents the excessive androgen production responsible for genital ambiguity in females. If diagnosed after birth, vaginoplasty surgery is usually performed on girls in the first year of life. Lifelong hormone replacement therapy is needed to treat adrenal insufficiency and to decrease elevated androgen hormone levels in order to allow for normal growth and puberty. Hydrocortisone is usually given to children as glucocorticoid (GC) replacement therapy (10-15mg/m2/day divided into 2 or 3 doses) and 9alpha-fludrocortisone for mineralocorticoid (MC) replacement. Dosage is monitored and modified during times of stress. There is a risk of developing acute adrenal insufficiency (see this term) and other complications due to chronic hyperandrogenemia. Excessive treatment with GC causes cushingoid features, and excess MC causes hypertension. Regular follow-up by a multidisciplinary team, including pediatric endocrinologists, surgeons, gynecologists, psychologists, is important.PrognosisWith proper treatment patients have a normal life expectancy.Visit the Orphanet disease page for more resources.

MalaCards based summary : Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, also known as classic 21-ohd cah, is related to lipoid congenital adrenal hyperplasia and hyperandrogenism. An important gene associated with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency is CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2), and among its related pathways/superpathways are Peptide hormone metabolism and Corticotropin-releasing hormone signaling pathway. Affiliated tissues include bone, ovary and testes, and related phenotypes are long penis and ambiguous genitalia, female

Related Diseases for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Diseases related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 lipoid congenital adrenal hyperplasia 31.3 CYP21A2 POMC
2 hyperandrogenism 30.2 CYP21A2 POMC
3 polycystic ovary syndrome 29.7 CYP21A2 LEP
4 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.8
5 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 12.5
6 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 12.5
7 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 11.9
8 acute adrenal insufficiency 10.2 CYP21A2 POMC
9 cytochrome p450 oxidoreductase deficiency 10.2 CYP21A2 POMC
10 testicular leydig cell tumor 10.2 CYP21A2 POMC
11 steroid inherited metabolic disorder 10.1 CYP21A2 POMC
12 adrenal cortical hypofunction 10.1 CYP21A2 POMC
13 sex differentiation disease 10.1 CYP21A2 POMC
14 aging 10.1
15 adrenal rest tumor 10.1 CYP21A2 POMC
16 adrenal cortical adenoma 10.1 CYP21A2 POMC
17 pituitary-dependent cushing's disease 10.1 CYP21A2 POMC
18 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.1 CYP21A2 POMC
19 hypoadrenocorticism, familial 10.1 CYP21A2 POMC
20 adrenal adenoma 10.1 CYP21A2 POMC
21 adrenal carcinoma 10.0 CYP21A2 POMC
22 sick building syndrome 10.0 LEP POMC
23 endocrine pancreas disease 10.0 LEP POMC
24 pancreas disease 10.0 LEP POMC
25 amenorrhea 9.9 LEP POMC
26 eating disorder 9.9 LEP POMC
27 inherited metabolic disorder 9.8 CYP21A2 LEP
28 adrenocortical carcinoma, hereditary 9.8 CYP21A2 POMC
29 overnutrition 9.8 LEP POMC
30 glucose metabolism disease 9.8 LEP POMC
31 acquired metabolic disease 9.8 LEP POMC
32 autism 6 9.7 LEP LEPQTL1
33 obesity-hypoventilation syndrome 9.7 LEP LEPQTL1
34 conn's syndrome 9.7 CYP21A2 POMC
35 berardinelli-seip congenital lipodystrophy 9.7 LEP LEPQTL1
36 fetal macrosomia 9.7 LEP LEPQTL1
37 adenoma 9.6 CYP21A2 POMC
38 adrenal gland hyperfunction 9.5 CYP21A2 LEP POMC
39 hypothyroidism 9.2 LEP POMC
40 anorexia nervosa 9.1 LEP LEPQTL1 POMC
41 prader-willi syndrome 9.1 LEP LEPQTL1 POMC
42 body mass index quantitative trait locus 11 8.5 CYP21A2 LEP LEPQTL1 POMC

Graphical network of the top 20 diseases related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency:



Diseases related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Symptoms & Phenotypes for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Human phenotypes related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency:

32 (show top 50) (show all 57)
# Description HPO Frequency HPO Source Accession
1 long penis 32 frequent (33%) HP:0000040
2 ambiguous genitalia, female 32 frequent (33%) HP:0000061
3 fused labia minora 32 frequent (33%) HP:0000063
4 renal salt wasting 32 occasional (7.5%) HP:0000127
5 aggressive behavior 32 occasional (7.5%) HP:0000718
6 gynecomastia 32 occasional (7.5%) HP:0000771
7 hypertension 32 frequent (33%) HP:0000822
8 adrenogenital syndrome 32 hallmark (90%) HP:0000840
9 increased circulating renin level 32 hallmark (90%) HP:0000848
10 insulin resistance 32 occasional (7.5%) HP:0000855
11 menstrual irregularities 32 hallmark (90%) HP:0000858
12 decreased fertility in females 32 frequent (33%) HP:0000868
13 osteoporosis 32 hallmark (90%) HP:0000939
14 hirsutism 32 hallmark (90%) HP:0001007
15 acne 32 frequent (33%) HP:0001061
16 intellectual disability 32 occasional (7.5%) HP:0001249
17 failure to thrive 32 occasional (7.5%) HP:0001508
18 obesity 32 frequent (33%) HP:0001513
19 acidosis 32 hallmark (90%) HP:0001941
20 dehydration 32 hallmark (90%) HP:0001944
21 neonatal hypoglycemia 32 hallmark (90%) HP:0001998
22 vomiting 32 hallmark (90%) HP:0002013
23 hyperkalemia 32 hallmark (90%) HP:0002153
24 hypotension 32 hallmark (90%) HP:0002615
25 aortic root aneurysm 32 frequent (33%) HP:0002616
26 accelerated bone age after puberty 32 hallmark (90%) HP:0002805
27 hyponatremia 32 hallmark (90%) HP:0002902
28 increased circulating acth level 32 hallmark (90%) HP:0003154
29 decreased circulating aldosterone level 32 hallmark (90%) HP:0004319
30 short stature 32 hallmark (90%) HP:0004322
31 abnormality of circulating leptin level 32 frequent (33%) HP:0004361
32 abnormal oral glucose tolerance 32 frequent (33%) HP:0004924
33 generalized hyperpigmentation 32 frequent (33%) HP:0007440
34 maternal virilization in pregnancy 32 occasional (7.5%) HP:0008072
35 decreased circulating cortisol level 32 hallmark (90%) HP:0008163
36 elevated circulating follicle stimulating hormone level 32 hallmark (90%) HP:0008232
37 adrenal medullary hypoplasia 32 occasional (7.5%) HP:0008239
38 adrenocortical adenoma 32 occasional (7.5%) HP:0008256
39 congenital adrenal hyperplasia 32 hallmark (90%) HP:0008258
40 clitoral hypertrophy 32 frequent (33%) HP:0008665
41 abnormal spermatogenesis 32 frequent (33%) HP:0008669
42 enlarged polycystic ovaries 32 hallmark (90%) HP:0008675
43 female pseudohermaphroditism 32 occasional (7.5%) HP:0010458
44 hypovolemia 32 hallmark (90%) HP:0011106
45 abnormality of hair growth rate 32 hallmark (90%) HP:0011363
46 ectopic adrenal gland 32 occasional (7.5%) HP:0011742
47 adrenocorticotropic hormone excess 32 frequent (33%) HP:0011749
48 feeding difficulties 32 hallmark (90%) HP:0011968
49 elevated circulating luteinizing hormone level 32 hallmark (90%) HP:0011969
50 decreased fertility in males 32 frequent (33%) HP:0012041

GenomeRNAi Phenotypes related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.32 POMC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.32 POMC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.32 LEP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.32 LEP POMC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.32 LEP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.32 POMC
7 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.32 POMC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.32 POMC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.32 POMC

Drugs & Therapeutics for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Search Clinical Trials , NIH Clinical Center for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Genetic Tests for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Anatomical Context for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

MalaCards organs/tissues related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency:

41
Bone, Ovary, Testes, Uterus, Adrenal Gland

Publications for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Articles related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency:

(show all 27)
# Title Authors Year
1
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism. ( 28669219 )
2017
2
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia. ( 27041116 )
2016
3
Comparison of different glucocorticoid regimens in the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 25364676 )
2014
4
Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency followed from birth to 4A years of age. ( 24818525 )
2014
5
Prevalence of non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with acne: a hospital-based cross-sectional study. ( 22703023 )
2013
6
A case of recurrent labial adhesions in a 15-month-old child with asymptomatic non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 23426836 )
2012
7
Adrenarche and puberty in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 22123283 )
2011
8
IGF-I-IGFBP-3-acid-labile subunit (ALS) complex in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH). ( 21636299 )
2011
9
Alterations in lipid and carbohydrate metabolism in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 20395657 )
2010
10
An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. ( 20339513 )
2010
11
Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. ( 20169124 )
2009
12
Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency? ( 19004982 )
2009
13
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006. ( 19786796 )
2009
14
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006. ( 19844117 )
2009
15
Non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in families from a Greek island with a closed society. ( 19205441 )
2008
16
Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency can achieve their target height: the Leipzig experience. ( 18493149 )
2008
17
The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome. ( 18187875 )
2008
18
[Comparative study of prednisolone versus hydrocortisone acetate for treatment of patients with the classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency]. ( 18345402 )
2008
19
Growth in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 18174719 )
2007
20
Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 17200174 )
2007
21
Altered 24-hour blood pressure profiles in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 17003094 )
2006
22
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 16396852 )
2006
23
Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 16636975 )
2006
24
Pregnancy outcomes in women with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 16279367 )
2005
25
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density. ( 14586796 )
2003
26
Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 10084573 )
1999
27
Blunted adrenarche in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 7588424 )
1995

Variations for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Expression for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Search GEO for disease gene expression data for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Pathways for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

GO Terms for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Biological processes related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 8.96 LEP POMC
2 regulation of blood pressure GO:0008217 8.62 LEP POMC

Molecular functions related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 LEP POMC

Sources for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

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