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International Birth Defects Information Systems
Adrenal Hyperplasia

International Birth Defects Information Systems

Adrenal Hyperplasia

Topics: | 11 Beta - Hydroxylase Deficiency | 21 Hydroxylase B, Included | 21 Hydroxylase Deficiency | Adrenal Hypoplasia | Adrenal Hyperplasia III | Adrenal Hyperplasia IV | CA21H | Congenital Adrenal Hyperplasia | Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency | CYP21 Deficiency | CytochromeP450, Subfamily | Cytochrome P450, Subfamily XIB, Polypeptide | Cytochrome P450, Subfamily XXI | Cytochrome P450, Subfamily XXIA | Hypersensitive Form of Adrenal Hyperplasia | P450C11B1 Deficiency | Steroid 11 - Beta - Hydroxylase | Steroid Cytochrome P450 21-Hydroxylase |

Related Topics: | Hypospadias | Kallman S | XXY Klinefelter S |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English |

Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency
Visitor Comments [for Professionals mainly]
Congenital Adrenal Hyperplasia; Cytochrome P450, Subfamily XXIA; Cytochrome P450, Subfamily XXI; Steroid Cytochrome P450 21-Hydroxylase; 21 Hydroxylase B, Included ...
Gene Map Locus: 6p21.3 ... Since the symbol CAH is used for all forms of congenital adrenal hypoplasia (240200, 300200) and since CAH1 contains no intrinsic information indicating the particular type of adrenal hyperplasia, CA21H enjoyed favor as the preferred symbol after about 1983. Regarding nomenclature of the gene, the functional gene, previously designated CYP21B, is symbolized simply as CYP21, and the nonfunctional gene, previously CYP21A, is symbolized CYP21P (for pseudogene) (McAlpine, 1988) ... There are 4 recognized clinical forms of congenital adrenal hyperplasia, the majority of cases being associated with 21-hydroxylase deficiency: salt-wasting (SW), simple virilizing (SV), nonclassic (NC) late-onset (also called attenuated and acquired), and cryptic. All 4 forms are closely linked to HLA and represent the effects of various combinations of alleles. In female newborns, the external genitalia are masculinized; gonads and internal genitalia are normal. Postnatally, untreated males as well as females may manifest rapid growth, penile or clitoral enlargement, precocious adrenarche, and ultimately early epiphyseal closure and short stature. A mild form of late-onset adrenal hyperplasia due to 21-hydroxylase deficiency can occur in adults and has hirsutism as the only manifestation in the most attenuated form ... Presentation with gynecomastia and bilateral testicular masses was reported ... Kuttenn et al. (1985) found that 21-hydroxylase deficiency was the basis of hirsutism in 24 of 400 women (6%) ... In a follow-up study of 52 males with congenital virilizing adrenal hyperplasia seen at Johns Hopkins between 1950 and 1978, 51 had 21-hydroxylase deficiency and 1 had 11-hydroxylase deficiency ... women with classic CAH have relatively low fertility rates ... Patients with the HLA-Bw47 antigen invariably show simultaneous deficiencies of 21-hydroxylase activity and the C4A ... Speiser et al. (1992) correlated genotype and phenotype in 88 families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Mutations were detected on 95% of chromosomes examined ... Jones (1978) found cases of mild 'adult' adrenal hyperplasia manifest by oligomenorrhea and treated like the usual form with adrenocorticosteroids ... Congenital adrenal hyperplasia affects about 1 in 5,000 births ...

Visitor Comments [for Professionals mainly]
Cytochrome P450, Subfamily; Adrenal Hyperplasia IV; 11 Beta - Hydroxylase Deficiency; Hypersensitive Form of Adrenal Hyperplasia; Steroid 11 - Beta - Hydroxylase; P450C11B1 Deficiency; Cytochrome P450, Subfamily XIB, Polypeptide ...
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 …

Congenital Adrenal Hyperplasia: A Handbook For Parents
Jose L. Gonzalez, M.D, et al, Texas Department of Health
Visitor Comments [Support Groups]
Your baby had a blood test shortly after birth to look for a number of inherited medical conditions which require early treatment. The screening test does not prove that your baby has CAH. More tests will be needed to prove its presence. It is important to have your child tested as soon as possible. Untreated CAH can result in serious illness and, in some cases, death ... Treatment: CAH is never "outgrown"; treatment is required for life ... Psychological Consideration: If your baby was born with abnormalities of the genitals you may wish to tell family and friends that your baby has a minor defect which will delay the doctors in being able to confirm the sex of the child for a few days. Reassure them that the baby is healthy and normal in every other way. You may wish to add that your baby has a hormone imbalance that will require treatment. Issues relating to sexuality may cause concerns which are difficult to talk about. Be reassured that the little girl with CAH will grow up to function as a normal woman. Likewise, be reassured that the little boy with CAH who is taking medication to prevent excessive adrenal male-type hormone is still making plenty of male hormone! ...

Congenital Adrenal Hyperplasia: Not Really a Zebra
Michael A. Deaton, PH.D., M.D, et al, American Family Physician, March 1, 1999
Visitor Comments [for Professionals mainly] [Support Groups]
once considered a rare inherited disorder with severe manifestations. Mild congenital adrenal hyperplasia, however, is common, affecting one in 100 to 1,000 persons in the United States and frequently eluding diagnosis ... Even mild congenital adrenal hyperplasia can result in life-threatening sinus or pulmonary infections, orthostatic syncope, shortened stature and severe acne. Women with mild congenital adrenal hyperplasia often present with hirsutism, oligomenorrhea or infertility ... Classical congenital adrenal hyperplasia is rare, affecting only one in 14,000 patients, but mild forms of the disease may occur in one of every 100 to 1,000 persons ... Signs and Symptoms Suggesting Mild Congenital Adrenal Hyperplasia ... Children: Moderate to severe recurrent sinus or pulmonary infections; Severe acne; Hyperpigmentation, especially of the genitalia; Tall for age; Early onset of puberty. Adults : Childhood history as defined above; Syncope or near-syncope; Shortened stature compared with either parent; Hypotension (21-hydroxylase deficiency); Hypertension (11-ß hydroxylase deficiency). Women : Clitorimegaly; Poorly developed labia; Hirsutism; Infertility; Polycystic ovary syndrome ...

Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency
Deficiency of adrenal 17-hydroxylation activity was first demonstrated in a single 46,XX patient by Biglieri et al. (1966), who suggested a similar defect in the gonad. Production of excessive corticosterone and deoxycorticosterone resulted in hypertension and hypokalemic alkalosis. Aldosterone synthesis was almost totally absent. The patient had normal stature and amenorrhea. Although there were no other cases in the family and parental consanguinity was not noted, recessive inheritance was possible. Biglieri (1997) reviewed the evolution of the clinical features and laboratory findings in this case over 3 years.

Congenital Adrenal Hyperplasia
Washington State Department of Health
... What is CAH? - Congenital adrenal hyperplasia (CAH) is a treatable disorder that occurs when the adrenal glands do not function properly. The result is that normal amounts of essential hormones are not produced. If left untreated, CAH will cause problems with growth and development and can cause life-threatening illness …


Last Updated: 2023/07/18


American Medical Association