The Turkish Journal of Pediatrics 2004 , Vol 46 , Num 2
Familial thyroxin-binding globulin excess with ichthyosis: a case report

Departments of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey

Departments of Dermatology, Çukurova University Faculty of Medicine, Adana, Turkey

Abstract

Önenli-Mungan N, Yüksel B, Özer G, Denli G, Topaloğlu AK, Teker Z. Familial thyroxin-binding globulin excess with ichthyosis: a case report. Turk J Pediatr 2004; 46: 174-176.

Thyroxin (T4) binding globulin (TBG) the major thyroid hormone transport protein in humans. Congenital or acquired problems lead to TBG excess. Inheritance of TBG excess follows an X-linked pattern. A 21-month-old boy with ichthyosis was referred to the Pediatric Endocrinology Clinic with high levels of thyroid hormones (TT3=325 ng/dl, TT4 23 [micro]g/dl, FT3=3.49 pg/dl, FT4=1.44 ng/dl, TSH=2.48 [micro]IU/ml). He was clinically euthyroidic. Thyroid gland was normal in size and homogeneous. Thyroid autoantibodies were negative. TSH responded normally to thyroid releasing hormone (TRH) stimulus. TBG was elevated (56 [micro]g/ml). Family investigation revealed high levels of TBG in mother grandfather, and an uncle. To our knowledge, no other TBG excess with ichthyosis has been reported in the literature.

Keywords : thyroxin-binding globulin (TBG) excess ichthyosis
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