Clinical Research and Practice
Clinical and genetic analysis of Noonan syndrome in 20 children
Ding Yuan, Cao Bingyan, Su Chang, Liu Min, Chen Jiajia, Fan Lijun, Gong Chunxiu
Published 2021-07-02
Cite as Chin J Pediatr, 2021, 59(7): 588-593. DOI: 10.3760/cma.j.cn112140-20210318-00228
Abstract
ObjectiveTo explore the clinical and genetic characteristics of Noonan syndrome in children.
MethodsThe clinical characteristics,genetic analysis and follow-up data of 20 children diagnosed with Noonan syndrome who were admitted to Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University from March 2016 to December 2020 were retrospectively analyzed.
ResultsAmong 20 children with Noonan syndrome, 13 were males and 7 were females. The age at diagnosis was 5.9 years (1.1 years to 12.2 years). The most common clinical complaints were delayed height growth, followed by hypospadias or cryptorchidism in 2 cases, and special facial appearance in 1 case. Physical examination revealed 12 cases of Noonan syndrome with facial features, 9 cases with cryptorchidism and hypospadias, 10 cases with abnormal cardiac structure, and 10 cases with mental retardation; Twelve patients were detected with PTPN11 variations, 4 patients carried SOS2 variations, 2 cases were confirmed with variations in SHOC2 and SOS1. Six children received recombinant human growth hormone treatment, and their height increased by 4.0 (2.5-6.0) cm to varying degrees at 9 months. No adverse events occurred.
ConclusionsMale Noonan syndrome is more frequently found with external genitalia. In addition to the high frequency of PTPN11 variation, the frequency of gene variation in SOS2 gene is higher than previously reported. All of the SOS2 variations are de novo. The syndrome phenotype profiles could vary with the admitted clinical departments. To understand the full picture of the syndrome, it is necessary to collect medical information from different departments.
Key words:
Noonan syndrome; Phenotype; Cryptorchidism; Hypospadias; Genetic variation
Contributor Information
Ding Yuan
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
Cao Bingyan
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
Su Chang
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
Liu Min
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
Chen Jiajia
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
Fan Lijun
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
Gong Chunxiu
Department of Endocrinology, Genetics and Metabolism, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
