一例表现为青春期男性乳腺发育的孤立性17,20裂解酶缺陷症患儿的临床及遗传学分析  

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

作　　者：尹辉[1] 陈晓波[1] 刘子勤[1] 宋福英[1] 高亢 孔许净 陈宝荣 Yin Hui;Chen Xiaobo;Liu Ziqin;Song Fuying;Gao Kang;Kong Xujing;Chen Baorong(Department of Endocrinology,the Affiliated Children′s Hospital of Capital Institute of Pediatrics,Beijing 100020,China;Beijing Kingmed Clinical Laboratory,Beijing 100015,China)

机构地区：[1]首都儿科研究所附属儿童医院内分泌科,北京100020 [2]北京金域检验医学检验室,北京100015

出　　处：《中华医学遗传学杂志》2022年第7期718-721,共4页Chinese Journal of Medical Genetics

基　　金：首都卫生发展科研专项项目(首发2018-1-2101)。

摘　　要：目的分析以青春期男性乳腺发育为表现的孤立性17,20裂解酶缺陷症患者的临床及基因遗传特点。方法对1例14岁男性乳腺发育患者的临床表现、类固醇激素检测及相关基因进行分析。结果患者血压正常,乳腺(以"双侧增大2年余"就诊,)Tanner分期乳腺B5期,外生殖器G2期。实验室检查血钾、血气分析均正常。液相色谱串联质谱检测类固醇激素:孕烯醇酮、孕酮、17-羟孕烯醇酮、17-羟孕酮明显升高,脱氢表雄酮、雄烯二酮、睾酮、双氢睾酮等明显降低。基因检测发现患者CYP17A1基因携带分别来自父母的复合杂合变异c.1304T>C(p.F435S)和c.1346G>A(p.R449H)(未报道)。CYP17A1基因R449H变异导致17,20裂解酶氧化还原伙伴结合位点的蛋白三维构象改变,特异性影响17,20裂解酶活性。结论孤立性17,20裂解酶缺陷症是青春期男性乳腺发育的罕见病因,CYP17A1基因R449H变异可特异性影响17,20裂解酶活性。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.

关 键 词：17 20裂解酶缺陷症 CYP17A1基因 青春期 男性乳腺发育 

分 类 号：R725.9[医药卫生—儿科]