Clinical Characteristics And Treatment Efficacy In Six Noonan Syndrome Patients

Noonan syndrome(NS)is an autosomal dominant inherited disorder,characterized by short stature,special face features,and congenital heart disease.Previous studies showed that recombinant human growth hormone(rhGH)can significantly improve the patient’s adult height.But there are no reports about clinical manifestations or rhGH treatment responses in Chinese NS patients.(1)Six NS patients were collected from May 2009 to August 2015 in Department of Endocrinology,Peking Union Medical College Hospital with series of physical examination,laboratory tests,and genetic screening results.(2)Five patients were prescribed with rhGH with the daily dose of 0.04-0.06 mg/kg subcutaneously in the evening and made the regular follow-up.(3)Ten age/gender matched Turner syndrome(TS)patients and ten growth hormone deficiency(GHD)patients were also collected in the study,aiming to analyze the efficacy differences of rh GH treatment in NS,TS,and GHD patients.(1)Clinical manifestations: all patients manifested short stature and typical facial features.Five of them had congenital heart disease,four of them showed skeletal system abnormalities.(2)Genetic test results: PTPN11 is the most common affected gene in NS patients(4/6).The other gene mutations including KRAS(1/6)and SOS1(1/6).(3)Five of six patients were treated with rhGH.The annual growth rate of the patients was significantly increased than before(P<0.01).One patient entered 3-10 th percentile of the normal range of height in the 1-year follow-up,while the remaining four patients’ height was still less than 3rd.(4)The age-matched NS and TS patients had thesimilar efficacy of rhGH treatment in every follow-up.However,compared with age/gender matched GHD patients,NS patients revealed less treatment benefit.(5)Adverse events: two NS patients emerged subclinical hypothyroidism during the follow-up,levothyroxine was administered to correct their thyroid function.NS patients had relatively common symptoms and clinical features.Careful history collection and physical examinations could help us to make the diagnosis,through the precision gene screening is the definite way to confirm.rh GH showed the significant efficacy and safety in the treatment of NS.But the careful assessment of adverse events is still needed in the follow-up.