ESPE Abstracts (2016) 86 P-P2-962

Two Patients with Resistance to Thyroid Hormones

Esra Deniz Papatya Cakira, Orhan Gorukmezb, Seyit Ahmet Ucakturkc, Ayse Esin Kibarc, Ozlem Sangund, Sevcan Erdeme & Samim Ozenf


aBakirköy Dr Sadi Konuk Education and Researh Hospital Pediatric Endocrinology, Istanbul, Turkey; bBursa Sevket Yilmaz Education and Research Hospital Medical Genetics, Bursa, Turkey; cAnkara Children’s Hematology and Oncology Training Hospital Pediatric Endocrinology, Ankara, Turkey; dAnkara Children’s Hematology and Oncology Training Hospital Pediatric Cardiology, Ankara, Turkey; eAdana Baskent University School of Medicine Research and Training Hospital Pediatric Endocrinology, Adana, Turkey; fCukurova University School of Medicine Pediatric Cardiology, Adana, Turkey; gEge University School of Medicine, Izmir, Turkey


Background: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced sensitivity of target tissues to thyroid hormone.

Objective and hypotheses: We describe the clinical, biochemical data and mutation analysis of two patients and their families with (RTH).

Method: We conducted clinical studies and genetic analysis of these two patients and their families.

Results: First patient referred to pediatric endocrinology department for hyperthroidism associated with supraventricular tachycardia and thyroid hormone levels consistent with RTH. We found heterozygous c.962A>G mutation in THRB gene. The mother and siblings of this patient had no mutation in this gene. We could not evaluate this patient’s father. Second patient admitted for hyperactivity and referred for the abnormalities in thyroid function tests. We found heterozygous c.1378G>A mutation in THRB gene in this patient and his father and brother.

Conclusion: Goiter, hyperactivity and tachycardia are the most common clinical features in the patients with RTH syndrome. Diagnosis of RTH depends on the characteristic elevations in thyroid hormone and the exclusion of other causes of hyperthyroxinemia.

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