Familial thyroxin-binding globulin excess with ichthyosis: a case report

Onenli-Mungan N., Yuksel B., Ozer G., Denli G., Topaloglu A. , Teker Z.

TURKISH JOURNAL OF PEDIATRICS, vol.46, no.2, pp.174-176, 2004 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 2
  • Publication Date: 2004
  • Page Numbers: pp.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 mug/dl, FT3=3.49 pg/dl, FT4=1.44 ng/dl, TSH=2.48 muIU/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 mug/ml). Family investigation revealed high levels of TBG in mother grandfather, and an uncle. To our knowledge, no other TBG excels with ichthyosis has been reported in the literature.