ESPE Abstracts (2018) 89 P-P3-377

A Very Rare Thyroid Hormone Resistance Case Having Heterozygous Mutation in THRB Genes

Mehmet Keskina, Seniha Kiremitçi Yılmazb, Emel Hatun Aytaç Kaplana, Murat Karaoğlana, Kadri Karaerc & Özlem Keskind


aGaziantep University Faculty of Medicine, Department of Pediatric Endocrinology, Gaziantep, Turkey; bIstanbul Haseki Education and Research Hosptila, Istanbul, Turkey; cDr. Ersin Arslan Training and Research Hospital, Gaziantep, Turkey; dGaziantep University Faculty of Medicine Children’s Department, Gaziantep, Turkey


Objective: Thyroid hormone resistance is a rare autosomal dominant disease. In the pathogenesis of this disease mutations have been reported in two types of thyroid hormone receptors, called alpha and beta. Deletions or mutations in cofactors required to demonstrate receptor effect also reported in the beta receptor gene. The symptoms vary according to the cases. Here; a case of thyroid hormone resistance which is noticed by chance and not treated is presented.

Case: A 10-year-old girl was diagnosed with thyroid hormone resistance. There was late speech and walking in patient’s history. Body weight: 25 kg (10p), height: 137.5 cm (25p), system examinations were normal. In laboratory tests, free T4: 2.86 ng/dl (0.61–1.45), free T3: 9.37 pg/ml (2.5–3.9), TSH: 4.18 uIU/ml (0.34–5.60), thyroglobulin: 110 ng/ml (3.5–77), thyroid antibodies negative. In the genetic test for thyroid hormone resistance; THRB c949G>A (p.A317T) (p.Ala317Thr) (Heterozygous) mutation was detected. This mutation was very rarely seen in the literature. Thyroid and genetic tests were normal in parents. In the metabolic parameters; bone age was in accordance with calendar age, and lipids were at normal level. The case is followed without treatment.

Conclusion: In this study; a very rare form of thyroid hormone resistance is diagnosed by chance as a result of abnormal thyroid tests. Late speech and walking may be important marker in this type of thyroid hormone resistance.

Keywords: THRB, thyroid, resistance

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