Journal of pediatric endocrinology & metabolism : JPEM · 2024
Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical 11β-hydroxylase deficiency.
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Kennedy Elaine C, Stack Maria, Carolan Eirin, Durkan Maeve, Joyce Caroline M, Hawkes Colin P
Аннотация
OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an uncommon genetic disorder which affects cortisol production in the adrenal glands. It is usually treated with glucocorticoids. We present a case of non-classical CAH caused by the partial deficiency of 11 beta-hydroxylase (11βOH) which was treated with aldosterone antagonist (eplerenone) monotherapy.
CASE PRESENTATION: An adolescent male was diagnosed with 11 beta-hydroxylase deficiency (11βOHD) at 13 years of age when he presented with hypertension, fatigue and headaches. He was initially treated with glucocorticoids, but requested an alternative therapy. Eplerenone was commenced at 25 mg with subsequent dose increases to 100 mg daily. His hypertension was controlled on this regimen, achieving a 24 h average blood pressure of 124/81 mmHg.
CONCLUSIONS: CAH caused by 11βOHD is a known cause of hypertension. It is usually managed with glucocorticoids, and antihypertensives are added if blood pressure remains uncontrolled. In this case, glucocorticoid therapy was not tolerated and treatment with aldosterone antagonist monotherapy was effective in controlling his hypertension.
CASE PRESENTATION: An adolescent male was diagnosed with 11 beta-hydroxylase deficiency (11βOHD) at 13 years of age when he presented with hypertension, fatigue and headaches. He was initially treated with glucocorticoids, but requested an alternative therapy. Eplerenone was commenced at 25 mg with subsequent dose increases to 100 mg daily. His hypertension was controlled on this regimen, achieving a 24 h average blood pressure of 124/81 mmHg.
CONCLUSIONS: CAH caused by 11βOHD is a known cause of hypertension. It is usually managed with glucocorticoids, and antihypertensives are added if blood pressure remains uncontrolled. In this case, glucocorticoid therapy was not tolerated and treatment with aldosterone antagonist monotherapy was effective in controlling his hypertension.