Adrenogenital syndromes

Question 1

Diseases linked toward excess functional tissue

Answer 1

Congenital adrenal hyperplasia

Adenoma and carcinoma of zona reticularis

Question 2

Diseases linked toward funneling of metabolic intermediates

Answer 2

21-hydroxylase deficiency (classical) - leads to a shift in hormone production toward androgens. This is the most common form of CAH. It is autosomal recessive, HLA linked. Leads to excess steroids; virilisation, hirsutism, premature adrenarche, infertility. Also leads to less aldosterone and thus salt wasting, hyperkalemia, hypotension.

11-hydroxylase deficiency (non-classical) - Same symptoms as the classical version, except that there is an increase in DOC which works as an agonist for mineralocorticoid receptors and therefore you get no salt wasting.

Question 3

Treatment

Answer 3

Administration of glucocorticoids in order to induce negative feedback to decrease hyperplasia of the adrenal glands. Administration of testosterone and estrogen