Case Report: Anastrozole as a monotherapy for pre-pubertal children with non-classic congenital adrenal hyperplasia

Frontiers in Endocrinology

Endocrinology

Mutaz Jaber¹  Sandy C. Liu²  Malavika Suresh²  Yesica Mercado Munoz²  Kyriakie Sarafoglou³ 

[1] Department of Experimental and Clinical Pharmacology, University of Minnesota College of Pharmacy, Minneapolis, MN, United States;Department of Pediatrics, Division of Pediatric Endocrinology, University of Minnesota Medical School, Minneapolis, MN, United States;Department of Pediatrics, Division of Pediatric Endocrinology, University of Minnesota Medical School, Minneapolis, MN, United States;Department of Experimental and Clinical Pharmacology, University of Minnesota College of Pharmacy, Minneapolis, MN, United States;

关键词: congenital adrenal hyperplasia;    anastrozole;    aromatase inhibitor;    hydrocortisone;    bone maturation;    growth;    androgen;    estrogen;   

DOI  :  10.3389/fendo.2023.1101843

 received in 2022-11-18, accepted in 2023-02-17,  发布年份 2023

来源: Frontiers

【 摘 要 】

Most children with non-classic congenital adrenal hyperplasia (NC-CAH) due to 21-hydroxylase deficiency are asymptomatic and do not require cortisol replacement therapy unless they develop symptoms of hyperandrogenemia. The current practice is to treat symptomatic children with hydrocortisone aimed at suppressing excess adrenal androgen production irrespective of the child’s level of endogenous cortisol production. Once on hydrocortisone therapy, even children with normal cortisol production require stress dosing. Some children with NC-CAH may present with premature adrenarche, growth acceleration, and advanced bone age, but with no signs of genital virilization and normal endogenous cortisol production. In these cases, an alternative therapy to hydrocortisone treatment that does not impact the hypothalamic–pituitary–adrenal axis, but targets increased estrogen production and its effects on bone maturation, could be considered. Aromatase inhibitors (AIs), which block the aromatization of androgen to estrogen, have been used off-label in men with short stature to delay bone maturation and as an adjunct therapy in children with classic CAH. The use of AI as a monotherapy for children with NC-CAH has never been reported. We present three pre-pubertal female children with a diagnosis of NC-CAH treated with anastrozole monotherapy after presenting with advanced bone age, early adrenarche, no signs of genital virilization, and normal peak cortisol in response to ACTH stimulation testing. Bone age z-scores normalized, and all three reached or exceeded their target heights. Monotherapy with anastrozole can be an effective alternative in slowing down bone maturation and improving height outcomes in children with NC-CAH and normal adrenal cortisol production.

【 授权许可】

Unknown   
Copyright © 2023 Liu, Suresh, Jaber, Mercado Munoz and Sarafoglou