Adrenal enzyme deficiencies Flashcards
17-alpha hydroxylase deficiency is associated with what phenotype in males vs females
males = ambiguous genitalia, undescended testes Females = lack secondary sexual development
How are adrenal hormones affected by a 17-alpha hydroxylase deficiency?
Cortisol and adrogens will be low
Aldosterone will be high
17-alpha hydroxylase is required for conversion of pregnenalone and progesterone to cortisol and adrogen pathways
pregnenalone (first step in steroid synthesis in adrenals) will all be converted to aldosterone
21 hydroxylase deficiency is associated with what phenotype?
salt wasting in infacncy or precocious puberty
How are adrenal hormones affected by a 21 hydroxylase deficiency?
aldosterone and cortisol are low
sex hormones are high
11 beta hydroxylase deficiency is associated with what phenotype?
female virulization
what is most common adrenal enzyme deficiency?
21 hydroxylase leading to salt wasting in infacncy or precocious puberty
What are the lab values for 21 hydroxylase deficiency
decreased aldosterone decreased cortisol increased sex hormones decreased BP increased K+ increased renin increased 17-hydroxy-progesterone
