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Familial thyroxin-binding globulin excess with ichthyosis: a case report.
Neslihan Onenli-Mungan1, Bilgin Yüksel, Güler Ozer
1Department of Pediatrics, Cukurova University, Faculty of Medicine, Adana, Turkey.
The Turkish Journal of Pediatrics
|June 25, 2004
Summary
Elevated thyroxine-binding globulin (TBG) causes high thyroid hormone levels in a boy with ichthyosis. This rare genetic condition, linked to TBG excess, was observed with a novel co-occurrence of ichthyosis.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Thyroxine-binding globulin (TBG) is the primary human transport protein for thyroid hormones.
- Congenital or acquired conditions can lead to TBG excess, often inherited in an X-linked pattern.
Observation:
- A 21-month-old boy with ichthyosis presented with elevated total T3 and T4 levels but remained clinically euthyroid.
- Thyroid function tests, including TSH response to TRH, were normal, with negative thyroid autoantibodies.
- Significantly elevated TBG levels were detected in the patient and confirmed in his mother, grandfather, and uncle.
Findings:
- The patient exhibited high thyroid hormone levels due to elevated TBG, consistent with a genetic cause of TBG excess.
- The co-occurrence of TBG excess and ichthyosis in this patient is, to our knowledge, unprecedented in medical literature.
Implications:
- This case highlights a rare genetic disorder involving TBG excess presenting with ichthyosis.
- Further research may elucidate potential genetic links or shared pathways between TBG regulation and skin conditions like ichthyosis.