| Symbol
| CYP11A1D
|
| Location
| 15q24.1
|
| Name
|
adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete |
| Other name(s)
|
lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism
P450scc deficiency |
| Corresponding gene
|
CYP11A1
|
| Main clinical features
|
male pseudohermaphroditism, phenotypic females irrespective of gonadal sex, frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted
congenital adrenal insufficiency with hyperpigmentation and markedly elevated ACTH levels
ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| endocrinology |
| Type
| disease
|