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Items: 3

1.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

MedGen UID:
424833
Concept ID:
C2936858
Congenital Abnormality
2.

Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency

MedGen UID:
348518
Concept ID:
C1859995
Disease or Syndrome
3.

Deficiency of steroid 11-beta-monooxygenase

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 (White et al., 1991). CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991). [from OMIM]

MedGen UID:
82783
Concept ID:
C0268292
Disease or Syndrome
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