Congenital enzymatic defects of supra renal gland)adrenal) CAH -Abnormal hair growth in women

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Adrenal hyperplasia

Congenital adrenal hyperplasia may be of two types. These disorders are enzymatic defects of adrenal gland.  A) Severe form: revealed at birth or soon after ::-is an inherited autosomal recessive enzyme defect that results in metabolic disorders and masculinization of newborn females. It is fortunately rare. B) Mild form is clinically revealed at about Puberty.This type is of  milder form, with onset at or following menarche, is variously labeled late-onset, adult-onset, acquired, partial, attenuated and non-classical adrenal hyperplasia. There can be deficiency of any of three enzymes like  21-hydroxylase deficiency,  11β-hydroxylase deficiency or  3β-hydroxysteroid dehydrogenase deficiency.  However the   most common form is due to 21-OH roxylase deficiency; other forms are due to 11β-hydroxylase deficiency and 3β-hydroxysteroid dehydrogenase deficiency. What are the clinical signs? Ans:- This  includes  mild hirsutism(currently called abnormal hair growth in women ) , increased skin sebum   causing mild acne, increased scalp sebum making daily hair washing necessary and mild hypertension. How to confirm the diag?? Ans:-The diagnosis is confirmed by 17-hydroxyprogesterone (17OHP) levels ≥ 200 ng/dL or dehydroepiandrosterone sulfate (DHEAS) levels ≥ 180 μg/dL, which may also originate in the ovary. Elevated DHEAS is more common in mild cases and can be measured first. 17OHP should be measured first if there is virilization (hirsutism, male-pattern baldness or clitoral enlargement). Treatment for either defect is low-dose corticosteroid (0.5 mg dexamethasone or 5 mg prednisone) daily at bedtime. The addition of CC is often necessary or ovulation. Corticosteroids should be discontinued after ovulation, because of the risk of birth defects. Amenorrhea and excess androgen may be due to Cushing’s syndrome or acromegaly. Rapid development of virilization may be due to an androgen-producing tumor.