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A case of Turner Syndrome with concomitant transient hypogammaglobulinaemia of infancy and central diabetes insipidus
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نویسنده
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korkmaz h.a. ,özkan b. ,hazan f. ,büyükinan m. ,çelik t.
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منبع
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journal of clinical research in pediatric endocrinology - 2013 - دوره : 5 - شماره : 1 - صفحه:62 -64
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چکیده
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Turner syndrome (ts) is a genetic disorder that affects development in females and is characterized by the complete or partial absence of the second sex chromosome,or monosomy x. ts is associated with abnormalities in lymphatic and skeletal development,in growth,and in gonadal function. cardiac and renal malformations and a number of specific cognitive findings may also be encountered in these patients. an increased risk for hypothyroidism,sensorineural hearing loss,hypertension,and other problems has also been reported. we present the case of a patient with ts accompanied by transient hypogammaglobulinaemia of infancy (thi) and central diabetes insipidus,which we believe is the first reported ts patient with these concomitant disorders. © journal of clinical research in pediatric endocrinology,published by galenos publishing.
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کلیدواژه
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Central diabetes insipidus; Hypogammaglobulinaemia; Mental retardation; Turner syndrome
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آدرس
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dr. behçet uz children disease and surgery training and research hospital,department of pediatric endocrinology, Turkey, dr. behçet uz children disease and surgery training and research hospital,department of pediatric endocrinology, Turkey, dr. behçet uz children disease and surgery training and research hospital,department of genetics, Turkey, dr. behçet uz children disease and surgery training and research hospital,department of pediatric endocrinology, Turkey, dr.behcet uz children disease and surgery training and research hospital,department of pediatrics, Turkey
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Authors
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