一个患有3-M综合征的男性发生性腺失败
Irena Aldhoon-Hainerova1, Elizabeth Baranowski2,3, Esther Kinning4
1Department of Children and Adolescents, Faculty Hospital Kralovske Vinohrady, Third Faculty of Medicine, Charles University, 100 34 Prague 10, Czech Republic.
JCEM case reports
|June 7, 2024
概括
3-M综合征是一种罕见的遗传疾病,导致身材矮小,也可能导致男性的青春期功能障碍. 这一案例强调了需要对受影响个体的青春期发育保持警的监测.
科学领域:
- 遗传学和内分泌学
- 罕见的遗传疾病 罕见的遗传疾病
背景情况:
- 3-M综合征 (OMIM 273750) 是一种罕见的遗传疾病,其特征是严重的矮身和异形特征,通常与诸如CUL7.7等基因中的致病变体有关.
- 虽然身高矮是主要特征,但在男性中,相关的异常,如低性和低性异常很少被报告.
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