Objective To analyze the characteristics of molecular genetics and clinical pheno-type of Noonan syndrome(NS)in which short stature is the main complaint,and to provide clini-cal evidence for screening NS in childhood with short stature as main complaint.Methods The re-sults of NS-related gene variation,clinical phenotypic characteristics,recombinant human growth hormone treatments and follow-ups were retrospectively analyzed in 14 patients with short sta-ture who were admitted to the Department of Endocrinology,Genetics and Metabolism of Jiangxi Children's Hospital from January 2016 to April 2023,and the differences of variant phenotypes were compared by literature search.Results PTPN11 gene mutation was the most common in 14 children(11/14 cases,78.5％);the other gene variant were KRAS,with 1 case of SOS1 and RIT1 mutation;PTPN11 gene mutations in exon 7 were most common(4/11 cases,36.3％).12 of the 14 gene mutations were new mutations(85.7％)and two(14.3％)were family inherited muta-tions;all the mutation types were missense mutations.The mean age of the 14 patients was(7.89±3.65)years,and the clinical phenotypes were mainly severe growth retardation[100％,mean height standard deviation(HtSDS)was(-4.28±1.04)SDS],and backwardness in bone age[100％,mean backwardness(2.79±1.11)years].12 cases(85.7％)had specific facial features;10 cases(71.4％)were associated with total growth retardation;7 cases(50.0％)with congenital heart disease(atrial septal defect was the most common);7 cases(50.0％)with skeletal malforma-tion;5 cases(35.7％)with urogenital anomalies.Other clinical phenotypes included eyelid ptosis in 3 cases(21.4％),visible skin nevus in 2 cases(14.3％),low birth weight in 2 cases(14.3％),and cutaneous hemangioma in 1 case.The pituitary gland MRI suggested the miniaturization of pitui-tary gland in 5 cases(38.5％).From growth hormone stimulation tests in 13 cases,1 case was completely growth hormone deficient;5 cases were partially growth hormone deficient;4 cases were treated with recombinant human growth hormone(rhGH)for 1.5 to 2.0 years,and the growth rate was between 7 and 10 cm·year-1,no adverse effects observed.Conclusion NS Chil-dren with short stature as the main clinical symptom are mainly characterized by severe short sta-ture after birth.Some of them may not have a typical NS face,some of them may not have cardiac malformations,or they may only present with atrial septal defects,which could lead to underdiag-nosis.Therefore,genetic testing should be recommended to clarify the etiology of NS in children presenting with severe growth retardation combined with specific facial features.
NETL
NSTL
万方数据
维普
