克氏综合征并部分型雄激素不敏感综合征1例并文献复习
Klinefelter syndrome with partial androgen insensitivity syndrome:a case report and literature review
陈琼 1吴雪 1葛丽丽 2毋盛楠 1杨海花 1曹冰燕 3卫海燕1
作者信息
- 1. 郑州大学附属儿童医院/河南省儿童医院郑州儿童医院内分泌遗传代谢科,郑州 450018
- 2. 郑州大学附属儿童医院/河南省儿童医院郑州儿童医院河南省儿童遗传代谢性疾病重点实验室,郑州 450018
- 3. 首都医科大学附属北京儿童医院内分泌遗传代谢科 北京 100045
- 折叠
摘要
回顾性分析1例克氏综合征(KS)合并部分型雄激素不敏感综合征(PAIS)患儿临床资料.患儿,2个月22 d,因外生殖器异常于2021年10月至郑州大学附属儿童医院就诊.患儿出生后即发现外生殖器异常,表现为阴蒂肥大,完善性激素检查符合同龄儿,染色体结果提示47,XXY,因患儿严重男性化不足,进一步完善全外显子检测,结果提示AR基因杂合变异(c.1847G＞A,p.Arg616His),诊断为PAIS,同时其姐姐诊断为完全型雄激素不敏感综合征.目前患儿临床随访中,需多学科综合评估确定治疗方案.本案例为1例罕见的KS合并PAIS病例,提示对于KS患儿,出现严重男性化不足时需注意合并AR基因变异的可能.
Abstract
The clinical data of a patient with Klinefelter syndrome(KS)complicated by partial androgen insensitivity syndrome(PAIS)was retrospectively analyzed.The patient,a 2-month-and-22-day-old baby,was admitted to Children's Hospital Affiliated to Zhengzhou University due to abnormal external genitalia in October 2021.Upon birth,the patient exhibited abnormal external genitalia,manifested as clitoral hypertrophy.Hormonal examinations were consistent with those of peers,while chromosomal analysis revealed 47,XXY.Due to the severe undermasculinization,whole exome sequencing was conducted,indicating a heterozygous variant of the AR gene(c.1847G＞A,p.Arg616His).The patient was diagnosed with PAIS,and her elder sister was diagnosed with complete androgen insensitivity syndrome.For further treatment,a multidisciplinary comprehensive evaluation is needed.This is a rare case of KS combined with PAIS,suggesting the possibility of AR gene mutations in KS children with severe undermasculinization.
关键词
克氏综合征/雄激素不敏感综合征/AR基因Key words
Klinefelter syndrome/Androgen insensitivity syndrome/AR gene引用本文复制引用
出版年
2024
NETL
NSTL
万方数据