Clinical Study on Children with Wiedemann-Steiner Syndrome
10.3870/j.issn.1004-0781.2025.12.014
- VernacularTitle:Wiedemann-Steiner综合征患儿的临床研究
- Author:
Ziqin LIU
1
;
Xiou WANG
1
;
Fuying SONG
1
;
Mu DU
1
;
Shuyue HUANG
1
;
Yi SONG
1
;
Kang GAO
1
Author Information
1. 首都医科大学附属首都儿童医学中心内分泌科,北京 100020
- Publication Type:Journal Article
- Keywords:
Wiedemann-Steiner syndrome;
KMT2A gene;
Hypertrichosis;
Short stature;
Bone age
- From:
Herald of Medicine
2025;44(12):1970-1975
- CountryChina
- Language:Chinese
-
Abstract:
Objective Summarize the endocrine characteristics of 5 children with Wiedemann-Steiner syndrome(WDSTS)to enhance the early recognition capability of clinicians for this condition.Methods A retrospective analysis of the medical history,clinical manifestations,genetic testing,and treatment of 5 children with Wiedemann-Steiner syndrome treated in the endocrinology department of capital center for children's health,capital medical university from October 2020 to December 2024,summarizing the clinical characteristics of the disease.Results Among the 5 cases of WDSTS,there were 2 males and 3 females,with ages ranging from 1.9 to 10 years at the time of diagnosis.Cases 1 and 3 were born prematurely,and cases 1,2 and 5 were diagnosed as small for gestational age(SGA)infants.All 5 children exhibited distinctive facial features,hirsutism,sacral dimple,developmental delay,and adenoid hypertrophy,premature tooth replacement,feeding difficulties,and a high incidence of urinary system abnormalities.Four children complained of slow growth.Cases 1 and 4 were diagnosed with short stature.Cases 3 and 5 had normal height but were slightly shorter with advanced bone age.Case 5 also experienced early puberty.Case 2 was diagnosed with premature adrenarche and idiopathic central precocious puberty due to the presence of pubic hair and breast enlargement.Cases 1 and 3 were treated with recombinant human growth hormone(rhGH),which resulted in significant height growth(approximately 10 cm/year).However,treatment was discontinued in Case 1 due to a significant advancement in bone age.Conclusions WDSTS should be considered in patients presenting with short stature,distinctive facial features,hirsutism,developmental delay,and multiple system deformities.While rhGH treatment can help improve height in these patients,the potential for accelerated bone age maturation during treatment requires careful monitoring.
