The Turkish journal of pediatrics · 2004
Familial thyroxin-binding globulin excess with ichthyosis: a case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Onenli-Mungan Neslihan, Yüksel Bilgin, Ozer Güler, Denli Gül, Topaloğlu Ali Kemal, Teker Zeliha
Аннотация
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 microg/dl, FT3 = 3.49 pg/dl, FT4 = 1.44 ng/dl, TSH = 2.48 microIU/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 microg/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.