Endocrine Hypertension - Chapter 9: Congenital adrenal hyperplasia and hypertension

Elsevier, Endocrine Hypertension From Basic Science to Clinical Practice 2023, Pages 113-125
Busra Gurpinar Tosun and Tulay Guran

Congenital adrenal hyperplasia (CAH) is a group of monogenic, autosomal recessive disorders which are usually diagnosed in childhood. CAH is clinically manifested by disruption of cortisol biosynthesis, secondary to enzyme deficiencies in the adrenal steroidogenesis pathways. The prevalence of hypertension is higher with classical forms of CAH due to difficulties in glucocorticoid and mineralocorticoid therapy dose adjustments though as such not a primary hypertensive disorder. 17α-hydroxylase deficiency, 11β-hydroxylase deficiency, and P450 oxidoreductase deficiency are rare forms of CAH associated with endocrine hypertension, and may be the only presenting feature in late childhood and young adults. Hypertension in these patients with CAH is often accompanied by hypokalemia and low aldosterone and renin levels due to hypersecretion of the mineralocorticoid deoxycorticosterone. The presence of physical examination findings such as hyperpigmentation, hirsutism, short stature, menstrual irregularities, etc., may guide the diagnosis of CAH. In suspected individuals, the diagnosis is made by measuring the steroid hormone profile with confirmation by molecular genetic analysis.