Rauch-Steindl Syndrome Caused by NSD2 Mutation:A Case Report and Follow-up of Growth Hormone Therapy
10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2025.0419
- VernacularTitle:NSD2基因突变致Rauch-Steindl综合征1例及生长激素治疗随访
- Author:
Qun ZENG
1
;
Siqi HUANG
;
Hui OU
;
Xiaojuan LI
;
Liyang LIANG
Author Information
1. 深圳市宝安区妇幼保健院儿科内分泌,广东 深圳 518000
- Publication Type:Journal Article
- Keywords:
Rauch-Steindl syndrome;
short stature;
NSD2 gene;
growth hormone therapy;
delayed development
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2025;46(4):714-720
- CountryChina
- Language:Chinese
-
Abstract:
[Objective]To analyze the clinical characteristics,efficacy of growth hormone(GH)therapy,and follow-up of a child with Rauch-Steindl syndrome(RAUST)caused by NSD2 gene mutation,aiming to enhance pediatricians'understanding of this disorder.[Methods]We summarized the clinical features,gene test results,outcomes of GH therapy,and follow-up data of a child with RAUST syndrome caused by NSD2 mutation admitted to the Pediatric Endocrinology Department of Sun Yat-sen Memorial Hospital in April 2017,and then conducted a comparative analysis with relevant literature.[Results]The 2.9-year-old boy at initial visit was born prematurely at 36 weeks of gestation,with a birth weight of 1.7 kg and a body length of 42.0 cm.Clinical manifestations included intrauterine growth retardation,delayed language and motor development,extreme short stature(82.0 cm,-3.7 SD),emaciation,and distinctive facial features(triangular face,narrow jaw,prominent forehead,arched eyebrows,sparse eyebrows,high anterior hairline,crowded dentition),accompanied by bilateral cryptorchidism.Bone age was delayed by 1.4 years.Karyotyping and chromosomal microarray analysis were normal.GH therapy initiated at 3.8 years old yielded annual growth rates of 4.9-6.6 cm/year.When the treatment was discontinued at the age of 8.0,the boy's height was 113.7 cm(-3.0 SD),with subsequent decline in growth velocity.Whole exome sequencing in July 2024 identified a frameshift variant c.4028del(p.Pro1343Glnfs*49)in NSD2,which was confirmed as de novo pathogenic variation by parental Sanger sequencing.[Conclusions]This study reports the clinical features of RAUST syndrome caused by NSD2 mutation and explores the long-term efficacy of GH therapy.The findings contribute to a better understanding of this rare syndrome and further optimize its diagnosis and management.
