【Objective】Through summarizing the clinical manifestations and gene mutations of 5 types of RASopathies in childhood including Neurofibromatosis type1（NF1），Noonan syndrome（NS），Noonan syndrome with multiple lentigines（NSML），Costello syndrome（CS）and cardio-facio-cutaneous syndrome（CFC）and analyzing their commonalities and characteristics，to deepen the clinician′s understanding of the RASopathies and improve the domestic doctors′ diagnosis and treatment level of RASopathies.【Methods】The clinical data and gene mutation types of 11 patients of RASopathies who were diagnosed in Sun Yat- Sen Memorial Hospital from January 2015 to May 2018 were retrospectively analyzed. 【Results】The age of onset ranged from 6 months to 12 years and the main clinical manifestations of 11 patients included： short stature，craniofacial features，congenital heart defect，café-au-lait macules，developmental delay，thrombocytopenia， seizures and dystonia，cryptorchidism，etc. Five gene mutations were detected including NF1 gene，PTPN11 gene， RAF1 gene ，BRAF gene and HRAS gene.【Conclusions】The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/MAPK pathway. The RAS/MAPK pathway plays an important role in regulating growth development，promoting cell proliferation，differentiation，metabolism，and signal transduction of various hormones. Therefore，they share many overlapping characteristics，including craniofacial features，growth retardation，cardiac malformations，cutaneous and musculoskeletal abnormalities，neurocognitive impairment and tumor susceptibility. However ，each RASopathy exhibits different degree phenotypes because of mutations at different points in the pathway. In addition ，tumor susceptibility is one of the typical clinical features of RASopathies. Therefore，tumor monitoring is one of the most important contents in the follow-up process.

【Objective】 The purpose of this study was to investigate puberty development in β-TM patients and to analyze its clinical characteristics and influencing factors. 【Methods】 A total of 42 β-TM patients aged ≥10 years old were evaluated for their stages of puberty development by reviewing follow-up data(using the REDCAP system, the thalassemia follow-up database), questionnaire, physical examination and laboratory tests. To investigate The correlations between multiple factors, such as age, beginning age of iron chelation, iron overload and so on, and abnormal puberty development in β-TM patients, were investigated. 【Results】 Twenty-four cases of β-TM patients were diagnosed as abnormal puberty development, including 11 girls and 13 boys. The common clinical manifestations of β-TM patients with abnormal puberty development were delayed puberty development and primary amenorrhea for girls and short penis and small testicles for boys. The prevalence rate of abnormal puberty development was significantly higher in β-TM patients who had older beginning age of iron chelation, β0β0 genotype, a history of splenectomy, vitamin D deficiency and diabetes(χ² = 3.966, 5.196, 5.567, 4.714, P = 0.046, 0.023, 0.018, 0.030). The result of logistic regression analysis indicated that cardiac MRT2* < 20 ms was an independent risk factor for abnormal puberty development in β-TM patients. 【Conclusions】 Abnormal puberty development in β-TM patients is very common. Influencing factors include beginning age of iron chelation, β0β0 genotype, vitamin D deficiency, diabetes and cardiac iron deposition. Moreover, hypogonadotropic hypogonadism may be an important pathogenesis of abnormal puberty development in β-TM patients.