Abstract
Background
Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder due the lack of expression of paternally inherited imprinted genes on chromosome 15q11-13. Clinical presentation includes hypotonia, hyperphagia, obesity, hypogonadism, learning difficulty. The article aims to study clinical and laboratory of patient diagnosed and treated in National Hospital of Pediatrics, Hanoi (NHP).
Methods
A total of 80 patients diagnosed of PWS by FISH in NHP from 2007 to 2015 were recruited in the descriptive study.
Results
Male/female ratio was 6:1. Patients diagnosed before 5 years occupied 53.5%. The 85.7% of patients were found to have hypotonia at age of 4.9±2.0 months. A total of 86.4% of patients had hyperphagia at age of 20.7±11.1 months. In patients aged of >2 years, weight SDS was +8.7±4.7 SD compared to gender and age. The figure of BMI was +10.3±6.3 SD. Four in seven of patients aged ≥6 years had micropenis. A total of 91.7% of patients had cryptorchidism. 4/24 of patients (14.3%) had type 2 diabetes mellitus.
Conclusions
Based on clinical presentation, more PWS patients could be diagnosed and treated early.
Keywords: Prader-Willi syndrome (PWS), clinical presentation, laboratory characteristics