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Prader-Will 증후군에 있어서의 성장 및 내분비 기능에 관한 임상적 관찰
송재원,문형로,양세원 대한내분비학회 1988 Endocrinology and metabolism Vol.3 No.2
Clinical features including growth and endocrine function of eleven children with Prader-Willi syndrome diagnosed at the Department of Pediatrics of Seoul National University Children's Hospital from January 1979 to June 1988 were reviewed. The ratio of male to female was 6:5, and the mead age at diagnosis was 4 9/12 year and 9 4/12 year old age, respectively. All patients revealed developmental delay, obsity and mental retardation. Shorth stature was observed in two patients at diagnosis. Chromosonal anomaly, 46, XX, inv (9), was detected in a girl (case 1) out of the five examined. The bone age was delayed in three male patients of the seven studied. In the five patients, follow-up measurement for height and weight were performed, the degree of obesity became prominent after five years of age. The increase in serum testosterone to hCG stimulation was observed in two patients out of the three examined. The response of LH to LRH stimulation was not observed, but increased sereum FSH to LRH stimulation was observed in case 6. Oral glucose tolerance test was impaired in two cases out of the three examined. Cryptorchidism was observed in all six boys. Among them descended testis was resulted in one patient (cases 7) who had unilateral cryptorchidism after a course of hCG treatment. Others were treated by orchiopexy. In one patient (case 3) associated abnormalities; partial endocardial cushion defect, polydactyly, myopia, amblyopia and proteinuria were present.