Clinical and genetic analysis of a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia].

Hui Yin, Xiaobo Chen, Ziqin Liu, Fuying Song, Kang Gao, Xujing Kong, Baorong Chen

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 Jul 10

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To explore the clinical and genetic basis for a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia. Clinical manifestation, steroid analysis as well as genetic testing were carried out for a 14-year-old boy featuring puberty gynecomastia. The patient was admitted due to puberty gynecomastia for 2 years. Physical examination showed Tanner B5, G2 and normal blood pressure. Laboratory examination showed normal range of serum potassium and blood gas. Steroid analysis revealed extremely high pregnenolone, progesterone, 17-hydropregnenolone and 17-hydroprogesterone, Correspondingly, the DHEA, androstenedione, testosterone and dihydrotestosterone were low. He was found to harbor compound heterozygous variants of CYP17A1 gene (c.1304T>C/p.F435S and c.1346G>A/p.R449H), among which the R449H variant may result in isolated 17,20 lyase deficiency by altering the structure of redox-partner binding site. Isolated 17,20 lyase is a rare cause for puberty gynecomastia. The p.R449H variant of the CYP17A1 gene can result in isolated 17,20 lyase deficiency.

Citation

Hui Yin, Xiaobo Chen, Ziqin Liu, Fuying Song, Kang Gao, Xujing Kong, Baorong Chen. Clinical and genetic analysis of a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2022 Jul 10;39(7):718-721