[Clinical and genetic analysis of a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia].
In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, Jg. 39 (2022-07-10), Heft 7, S. 718-721
academicJournal
Zugriff:
Objective: To explore the clinical and genetic basis for a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia.
Methods: Clinical manifestation, steroid analysis as well as genetic testing were carried out for a 14-year-old boy featuring puberty gynecomastia.
Results: 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.
Conclusion: 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.
| Titel: |
[Clinical and genetic analysis of a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia].
|
|---|---|
| Autor/in / Beteiligte Person: | Yin, H ; Chen, X ; Liu, Z ; Song, F ; Gao, K ; Kong, X ; Chen, B |
| Zeitschrift: | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, Jg. 39 (2022-07-10), Heft 7, S. 718-721 |
| Veröffentlichung: | <2004->: Chengdu, Sichuan, P.R. China : Sichuan University ; <i>Original Publication</i>: Chengdu : Hua xi yi ke da xue,, 2022 |
| Medientyp: | academicJournal |
| ISSN: | 1003-9406 (print) |
| DOI: | 10.3760.cma.j.cn511374-20210528-00452 |
| Schlagwort: |
|
| Sonstiges: |
|