DISEASE: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Entry
H02314 Disease
Name
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Supergrp
Congenital adrenal hyperplasia [DS:H00216] 46,XY disorder of sex development due to testosterone secretion defect [DS:H00608] Male hypogonadism [DS:H02027]
Description
The cholesterol side-chain cleavage enzyme P450scc, encoded by CYP11A1, catalyzes the conversion of cholesterol to pregnenolone in the first step of steroid hormone biosynthesis. CYP11A1 deficiency is commonly associated with adrenal insufficiency, and in 46,XY individuals, with variable degrees of disorder of sex development.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the adrenal glands or adrenal hormone system
5A74 Adrenocortical insufficiency
H02314 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06019 Steroid hormone biosynthesis
H02314 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.
Parajes S, Chan AO, But WM, Rose IT, Taylor AE, Dhir V, Arlt W, Krone N
Title
Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X).
