endocrino Flashcards
Enzyme Deficiencies-17α-hydroxylase deficiency
Hypertension and hypokalemia
sexual infintilism, and primary amenorrhea
Enzyme Deficiencies-11β-hydroxylase deficiency
Hypertension and hypokalemia, plus androgen excess
Enzyme Deficiencies-21-hydroxylase deficiency
Hyponatremia, hyperkalemia, and sometimes hypoglycemia
Enzyme Deficiencies-17α-hydroxylase deficiency
DX:
Diagnosis is established by elevated 11-deoxycorticosterone (> 4000 ng/dL) and corticosterone (> 116 nmol/L) in the presence of low cortisol, androgens, and estrogens.
Enzyme Deficiencies-17α-hydroxylase deficiency
Treatment
low-dose glucocorticoids and spironolactone
Donde esta la 11β-hydroxylase
Mitochondria
Enzyme Deficiencies-11β-hydroxylase deficiency
Treatment
Infants are treated with glucocorticoids alone.
21-hydroxylase is required for synthesis of
aldosterone and cortisol
->all hormone synthesis is shunted to androgen synthesis.
insulin activates phosphofructokinase 2 and fructose-2,6-bisphosphate predominates.
During fed states
glucagon activates fructose bisphosphatase 2 and fructose-6-phosphate predominates
During fasting states
