[A case of Wiedemann-Steiner syndrome characterized by amenorrhoea, hypertrichosis, short stature, intellectual disability]

M Y He; F F Zeng; Y Wu; Q Miao

doi:10.3760/cma.j.cn112138-20220709-00503

[A case of Wiedemann-Steiner syndrome characterized by amenorrhoea, hypertrichosis, short stature, intellectual disability]

Zhonghua Nei Ke Za Zhi. 2023 Apr 1;62(4):438-441. doi: 10.3760/cma.j.cn112138-20220709-00503.

[Article in Chinese]

Authors

M Y He¹, F F Zeng², Y Wu³, Q Miao²

Affiliations

¹ Department of Endocrinology and Metabolism, Huashan Hospital, Fudan University, Shanghai 200040, China Shanghai Medical College, Fudan University, Shanghai 200032, China.
² Department of Endocrinology and Metabolism, Huashan Hospital, Fudan University, Shanghai 200040, China.
³ Department of Radiology, Huashan Hospital, Fudan University, Shanghai 200040, China.

PMID: 37032141
DOI: 10.3760/cma.j.cn112138-20220709-00503

Abstract

Wiedemann-Steiner综合征（WSS）是由KMT2A基因突变导致的，以智力障碍、多毛、身材矮小、面容异常为特征的罕见遗传病。本文报道1例因闭经、多毛至内分泌科就诊患者，最后诊断为WSS，并回顾复习相关文献。该患者携带1个未报道过的KMT2A突变位点，同时存在下丘脑性闭经、垂体微腺瘤和肾上腺腺瘤，拓展了KMT2A突变相关的WSS临床表型。.

Publication types

Case Reports

MeSH terms

Amenorrhea
Female
Humans
Hypertrichosis*
Intellectual Disability*

Supplementary concepts

Wiedemann Grosse Dibbern syndrome
Growth Deficiency and Mental Retardation with Facial Dysmorphism