Clinical Features of Incomplete 17α-Hydroxylase Deficiency in Patients with Hyperprogestroemia
ZHANG Yinghui
MA Xiaojun
ZHANG Huijuan
LIU Yanxia
Abstract：Objective To analyze the clinical characteristics of incomplete 17α-hydroxylase deficiency in patients with hyperprogestroemia,so as to improve the level of clinical understanding,diagnosis and treatment of this disease.Methods The clinical manifestations,laboratory tests,imaging findings and treatment effects of 8 patients with incomplete 17α-hydroxylase deficiency characterized by hyperprogestroemia admitted to the hospital from March 2019 to May 2022 were retrospectively analyzed.Results All the 8 patients with 17α-hydroxylase deficiency were female,aged 21-37 years,with clinical manifestations of primary infertility,7 patients with regular menstruation,1 patient with primary amenorrhea,8 patients with basically normal blood pressure and no hypokalemia.Laboratory examination showed high progesterone,7 patients were diagnosed by genotype test,6 patients with high hyperprogestroemia were given glucocorticoid therapy and individualized ovulation induction program,and 3 patients had a good pregnancy outcome.Conclusion Most patients with incomplete 17α-hydroxylase deficiency have primary infertility and hyperprogestroemia as the main clinical manifestations.Timely genetic testing should be performed to confirm the diagnosis,early treatment and timely glucocorticoid treatment assisted reproduction can achieve good pregnancy outcome.
Keywords：hyperprogesteremiacongenital adrenal hyperplasia17α-hydroxylase deficiency
Publication Date：2024-06-30
Online Publishing Date：2026-09-12(First online date of this platform, not the publication date of the document)
Pages：6( 2149-2154 )