Background: The current diagnostic criteria for PraderWilli syndrome (PWS) although widely accepted, is challenging to be implemented in Chinese population.
Objective and hypotheses: The present study collected PWS cases from 12 centres across China. By analysing the clinical manifestation during early infancy, we aimed to provide data for clinical characteristics, screening strategy and effect of GH treatment in Chinese PWS patients.
Method: We screened 63 suspected PWS cases in 12 centres from May 2012 to August 2013 using MS-PCR. Patients diagnosed by MS-PCR further underwent analysis by MS-MPLA and STR to identify PWS genetic markers. Data on patients history, clinical manifestation, anthropometrics and clinical biochemistry test before/after GH treatment were collected for analysis.
Results: Among our enrolled subjects, 16 were confirmed by MS-PCR. Further analysis using MS-MLPA and STR analysis showed that 13 were associated with paternal deletion while the rest three were maternal uniparental disomy (mUPD). Among the 16 diagnosed PWS, 13 were delivered at full term, one were preterm birth, two postterms, four delivered vaginally, and 12 delivered by caesarean section. Fetal distress was diagnosed in ten cases while abnormal foetal position found in five cases. All patients had reduced foetal movement, hypotonia and infant feeding difficulties. Characteristic facial appearance was found in six cases when 13 showed hypogonadism, eight had hypopigmentation. There were four patients received rhGH treatment. When we found patients treated with GH had improved physical development, no difference was found in thyroid function, plasma IGF1 levels, fasting blood glucose, fasting insulin levels, and blood lipid levels.
Conclusion: PWS might account for 25% of infants with idiopathic hypotonia and infant feeding difficulties. Screening using MS-PCR in suspected cases is critical to identify PWS patients. Hypogonadism and hypopigmentation are important clues for diagnosis. GH treatment during infancy can improve physical development in PWS patients, however how to improve cognitive development and function of endocrine system in PWS patients requires future studies.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology