Steroid hormone diseases Flashcards
No steroid hormones
Marked salt excretion in urine; all patients have female genitalia
B-hydroxysteroid dehydrogenase deficiency
Mutation in StAR
Nearly complete loss of steroid production
Alternate mutation of desmolase
Lipoid congenital adrenal hyperplasia
Virtually no sex hormones or cortisol
Increased aldosterone
Sodium and fluid retention leading to hypertension
All patients have female genitalia
17-a-hydroxylase deficiency
Most common form of congenital adrenal hyperplasia
No glucocorticoids or mineralocorticoids
Androgens overproduced
Most common cause of female hermaphroditism
21-a-hydroxylase deficiency
Decreased cortisol, aldosterone, corticosterone
Increased deoxycorticosterone
11-B-hydroxylase deficiency