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Syndrome of thyroid hormone resistance

DOI : https://doi.org/10.36349/EASMS.2020.v03i01.002
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A disturbed thyroid check-up is a frequent reason for consultation in endocrinology. The typical situations of hypo or hyperthyroidism encountered lead to classical etiological investigations, to define whether the cause is central or peripheral. In certain unusual situations, the profile encountered may be atypical. We report the case of a 6 years old girl hospitalized for a homogeneous goiter, a tachycardia evolving for a year without thyrotoxicosis or compression. There was strong consanguinity in the family and the mother had a history of thyroidectomy. The assessment found a normal TSH with a high LT4 level, and her mother had the same hormonal profile. Neck ultrasound found a homogeneous goiter with normal vascularization and thyroid scintigraphy, a moderate goiter with very intense fixation, without nodules. Biological examinations found normal prolactin and cortisol levels. The pituitary MRI was without abnormality. The diagnosis of central hormone resistance syndrome was retained. This autosomal dominant transmission syndrome is a rare entity with poor symptomatology. It is important to think about it as a differential diagnosis of a thyreotropin-secreting pituitary adenoma when it results to an increased peripheral hormone level with a normal or elevated TSH, especially in patients with strong consanguinity. The diagnosis is made by genetic tests but it is rarely practice. The treatment is not codified. It ranges from abstention to thyroidectomy and it depends signs of thyrotoxicosis are identified.

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Dr. Afroza Begum

Lecturer, Dept. of Pharmacology and Therapeutics, Shaheed Monsur Ali Medical College & Hospital, Uttara, Dhaka-1230, Bangladesh

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