AB156. Clinical and laboratory characteristics of Prader-Willi syndrome
Part 4: Oral/poster

AB156. Clinical and laboratory characteristics of Prader-Willi syndrome

Bui Phuong Thao1, Vu Chi Dung1, Nguyen Ngoc Khanh1, Can Thi Bich Ngoc1, Ngo Diem Ngoc1, Dinh Thi Hong Nhung1, An Thuy Lan1, Nguyen Thi Mai2, Nguyen Phu Dat2, Nguyen Thi Hoan1

1Vietnam National Hospital of Pediatrics, Hanoi, Vietnam; 2Hanoi Medical University, Hanoi, Vietnam

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

Cite this abstract as: Thao BP, Dung VC, Khanh NN, Ngoc CT, Ngoc ND, Nhung DT, Lan AT, Mai NT, Dat NP, Hoan NT. Clinical and laboratory characteristics of Prader-Willi syndrome. Ann Transl Med 2015;3(S2):AB156. doi: 10.3978/j.issn.2305-5839.2015.AB156

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