Preferred Label : Hypersecretion of adrenal androgens, familial;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Some women with hirsutism and amenorrhea have an attenuated form of congenital adrenal
hyperplasia due to 21-hydroxylase deficiency (201910). This form, as in the classic
form of congenital adrenal hyperplasia, is linked to HLA and has an autosomal recessive
inheritance. Mild forms of 11-hydroxylase deficiency (202010) and of 3-beta-hydroxysteroid
dehydrogenase deficiency (201810) also exist. Lee et al. (1987) described a family
in which female members presented with premature pubarche, later with hirsutism and
amenorrhea, and with evidence of functional adrenal hyperfunction but no evidence
of enzyme deficiency. These findings were observed in the proband, her mother, the
mother's twin sister, and her maternal great-grandmother. Basal levels of androgen
in the first 3 were variably elevated. Neither the proband nor her mother or twin
sister had the type of response seen in homozygotes, the attenuated form of congenital
adrenal hyperplasia, when;
Inheritance : Autosomal dominant;
Prefixed ID : 145295;
Origin ID : 145295;
UMLS CUI : C1840387;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
