A Chinese girl with delayed puberty due to 17-hydroxylase deficiency: the diagnosis, treatment and monitoring approach

Geoffrey Chek Fei Yu,Ming-kut Tay,Sammy Pak-lam Chen,Mei Tik Stella Leung,Joanna Yuet-ling Tung

Endocrinology, Diabetes & Metabolism Case Reports（2023）

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摘要

17 alpha-hydroxylase deficiency (17 alpha-OHD) is a rare form of congenital adrenal hyperplasia. We report the case of a teenage girl with 17 alpha-OHD who presented with delayed puberty, hypergonadotropic hypogonadism and hypertension. We illustrate the clinical approach in workup, the subsequent management and monitoring of this rare condition.

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关键词

Adolescent, young adult, Female, Asian - Chinese, China, Adrenal, Puberty, New disease or syndrome: presentations, diagnosis, management, September, 2023

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