Genetic Defects of Cortisol Synthesis – Hypertension	

Biglieri and colleagues have described a syndrome where defective 17a-hydroxylation is present in the adrenals and gonads. The resultant low levels of cortisol, acting via the negative feedback mechanism, stimulate ACTH release, with consequent bilateral hyperplasia and excessive secretion of corticosterone and deoxycorticosterone. These, in turn, cause sodium retention, potassium loss, hypertension, and a hypokalaemic alkalosis. The absence of normal androgen secretion in men causes male pseudohermaphroditism, while defective oestrogen secretion in women results in primary amenorrhoea. Renin levels are also suppressed.