21β-hydroxylase deficiency
A newborn child (girl) exhibited ambiguous genitalia, hyponatremia, hyperkalemia, and hypotension as a result of genetic deficiency of 21β-hydroxylase activity.
Questions and tasks
1. Describe briefly synthesis and degradation of suprarenal hormones and focus on importance of 21β-hydroxylase and effects of its deficiency.
2. Describe the regulation of production and release of suprarenal cortex hormones
3. In this type of adrenal hyperplasia in which there is excess production of cortisol precursors, which of the follow describes the primary therapeutic effect of glucocorticoid administration?
a) increased adrenal estrogen synthesis
b) inhibition of adrenal aldosterone syntehsis
c) prevention of hypoglycemia
d) recovery of normal immune function
e) suppression of ACTH secretion
4. Except of hydrocortisone administration, which other therapeutic approaches should be included?
5. What could happen, if the treatment of this patient would not be sufficient? Which clinical symptoms could occur?