J Clin Res Pediatr Endocrinol. 2013; 5(1): 62-64 | DOI: 10.4274/Jcrpe.880

A Case of Turner Syndrome with Concomitant ?Transient Hypogammaglobulinaemia of ?Infancy and Central Diabetes Insipidus

Hüseyin Anýl Korkmaz¹, Behzat Özkan¹, Filiz Hazan², Muammer Büyükinan¹, Tanju Çelik^3
1Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatric Endocrinology, Ýzmir, Turkey
²Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Genetics, Ýzmir, Turkey
³Dr.Behcet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatrics, Ýzmir, Turkey

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.

Keywords: Turner syndrome, hypogammaglobulinaemia, central diabetes insipidus, mental retardation\r\n

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