Journal of Clinical Pediatrics >
Clinical analysis of five patients with 17α-hydroxylase deficiency from three families
Received date: 2023-07-18
Online published: 2024-05-10
Objective To investigate and summarize the diagnosis and treatment of 17α-hydroxylase deficiency. Methods Clinical data of a total of 5 cases of 17α-hydroxylase deficiency (17OHD) from 3 families admitted to the Department of Pediatric Endocrinology and Genetic Metabolism from November 2015 to February 2023 were retrospectively analyzed, and relevant literature was reviewed. Results Hypertension, hypokalemia and low sex hormone levels were present in all 5 cases, 4 cases had no secondary sexual development, and 2 children with 46, XY underwent gonadal biopsy and bilateral orchiectomy, and postoperative gonadal pathology showed dysplasia of testis. Genetic analysis showed that 3 cases had homozygous variants of c.985_987delinsAA, which resulted in amino acid shift line mutation (p.Tyr329Lysfs*90), and the other two cases had compound heterozygous varaiants of c.785T>G and c.1193C>T. Hypokalemia and hypertension were controlled by glucocorticoid therapy. Conclusions Early recognition and diagnosis of 17α-hydroxylase deficiency and timely glucocorticoid replacement therapy can achieve a satisfactory outcome and improve the quality of life of the children. Gene sequencing helps to clarify the molecular diagnosis of this rare disease.
Key words： 17α-hydroxylase deficiency; CYP17A1; hypertension; hypokalemia
Xiuqi MA , Yijun TANG , Yao CHEN , Qian LIU , Xiaofang ZHANG , Lin CHEN , Yi ZHANG , Xike WANG , Xiumin WANG . Clinical analysis of five patients with 17α-hydroxylase deficiency from three families[J]. Journal of Clinical Pediatrics, 2024 , 42(5) : 450 -455 . DOI: 10.12372/jcp.2024.23e0665
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