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Poster Session : PS 0460 ; Genetics ; Problems in Differential Diagnostics of Rare Genetic Disorders
( Natalya Volkova ),( Ilya Davidenko ),( Maria Antonenko ),( Igor Reshetnikov ),( Julia Rudakova ),( Irina Dzherieva ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Background: Prader-Willi syndrome (PWS) is a rare genetic disorder in which seven genes (or some subset thereof) on paternal chromosome 15 (q 11-13) are deleted or unexpressed (chromosome 15q partial deletion). The incidence of PWS is between 1 in 25,000 and 1 in 10,000 live births. There are many signs and symptoms of PWS. The variety of symptoms can range from poor muscle tone during infancy to behavioral problems in early childhood. Clinical case: A 16-year patient presented with complaints on delayed sexual development. Also he had nonspecific symptoms as like increased appetite, rapid fatigability, headaches, dizziness, syncopes, and increased irritability. Past history did not include any information about delayed sexual development. Also medical history demonstrated muscle weakness, decreased sucking refi ex and weight loss before 2 years age. Thereafter, all symptoms disappeared, and reverse symptoms as like polyphagia and increased appetite developed. During the whole period of a disease patient were examined by various specialists, but nobody observed signs and symptoms of delayed sexual development. Physical examination revealed adult woman pattern of hair distribution, testicular hypoplasia and obesity (BMI 42,5 kg/m2). Also patient had acromicria and mental defi ciency. Further, laboratory examination revealed decreased testosterone, LH and FSH. Thus, secondary hypogonadism was diagnosed. Also psychiatrist proved decreased IQ level. Based on all clinical signs and symptoms there were supposed that secondary hypogonadism is a part of some genetic disorder. Further, geneticist established karyotype 46 ХУ with 15q-11-13. As result PWS was diagnosed. Symptomatic treatment, like chorionic gonadotropin, dietotherapy, physical activity and home schooling wasprescribed. Conclusions: This clinical case demonstrates that there is no systematic diagnostics of rare genetic disorders. PWS is multidisciplinary problem that is needed special attention of various specialists. Any symptom as like secondary hypogonadism could be PWS clinical presentations
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