Familial thyroxin-binding globulin excess with ichthyosis: a case report.
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.
Onenli-Mungan
Neslihan
N
Department of Pediatrics, Cukurova University, Faculty of Medicine, Adana, Turkey.
Yüksel
Bilgin
B
Ozer
Güler
G
Denli
Gül
G
Topaloğlu
Ali Kemal
AK
Teker
Zeliha
Z
D005192:Family Health; D006801:Humans; D007057:Ichthyosis / Q000473:pathology*; D007223:Infant; D008297:Male; D013974:Thyroxine / Q000097:blood; D013975:Thyroxine-Binding Proteins / Q000378:metabolism*; D014284:Triiodothyronine / Q000097:blood
D013975:Thyroxine-Binding Proteins; D014284:Triiodothyronine; D013974:Thyroxine