Adrenal hyperplasia

Congenital adrenal hyperplasia
Classification and external resources
Specialty	Pediatrics, medical genetics
ICD-10	E25.0
ICD-9-CM	255.2
OMIM	201910 201710 202110 201810 202010
DiseasesDB	1854 1832
MedlinePlus	000411
eMedicine	ped/48
MeSH	D000312
[]

Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis).

Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults.

The symptoms of CAH vary depending upon the form of CAH and the sex of the patient. Symptoms can include:

Due to inadequate mineralocorticoids:

Due to excess androgens:

Due to insufficient androgens and estrogens:

Each form of CAH is associated with a specific defective gene. The most common type (95% of cases) involves the gene for 21-hydroxylase, which is found on 6p21.3 as part of the HLA complex. 21-hydroxylase deficiency results from a unique mutation with two highly homologous near-copies in series consisting of an active gene (CYP21A) and an inactive pseudogene (CYP21P). Mutant alleles result from recombination between the active and pseudo genes (gene conversion).

Further variability is introduced by the degree of enzyme inefficiency produced by the specific alleles each patient has. Some alleles result in more severe degrees of enzyme inefficiency. In general, severe degrees of inefficiency produce changes in the fetus and problems in prenatal or perinatal life. Milder degrees of inefficiency are usually associated with excessive or deficient sex hormone effects in childhood or adolescence, while the mildest forms of CAH interfere with ovulation and fertility in adults.

...
Wikipedia