Introduction: A disturbed thyroid status is a frequent reason for consultation in endocrinology. The typical tables of hypo or hyperthyroidism encountered lead to classical etiological investigations whether central or peripheral. In some unusual situations, the profile encountered may be atypical. We report a case.
Observation: Six years old girl, hospitalized for a goitre evolving since one year without thyrotoxicosis nor compression signs. There was strong consanguinity in the family and the mother has a thyroidectomy. The examination found a homogeneous goiter, without thrill, tachycardia. The balance returned normal TSH at 1.88 μU/ml with a high LT4 level at 58 pmol/l. On cervical ultrasound, an homogeneous goitre, with normal vascularization. In thyroid scintigraphy we found a moderate goitre with very intense fixation, without nodules. The blood stamp found normal prolactin and cortisol levels. Pituitary MRI was without abnormality. The maternal assessment found a normal TSH at 1.74 mU/l, an LT4 at 41.9 pmol/l. The diagnosis of central hormone resistance syndrome was retained.
Discussion: The thyroid hormone resistance syndrome is a rare entity, not very symptomatic. We can evoque it as a differential diagnosis of a thyrotropic adenoma with an unrestrained TSH and an increased level of peripheral hormones, especially in patients with consanguinity (autosomal dominant character). The diagnosis is genetic, not currently used is practice. The treatment is not codified. It can be abstention or thyroidectomy and is based on the presence of signs of thyroitoxicosis.
18 - 21 May 2019
European Society of Endocrinology