ESPE Abstracts (2019) 92 P2-281

1Ukrainian Scientific Centre of Endocrine Surgery, Kyiv, Ukraine. 23rd Department of Internal Medicine, 1st Faculty of Medicine, Charles University, General University Hospital, Prague, Czech Republic. 3Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

Introduction: The pathology of thyroid gland is Ukraine is quite common and in 2018y included 277,708 patients with diffuse goiter (36.47 per 1000 population), 2,311 patients (0.30:1000) with nodular goiter, 341 patients with diffuse toxic goiter (0.04:1000), 7,157 (0.94:1000) with autoimmune thyroid disease and 129 patients with thyroid cancer (1.7:100000). However the syndrome of resistance to thyroid hormone (RTH) or Familial Dysalbuminemic Hyperthyroxinemia (FDH) are relatively uncommon disorders and have not been previously diagnosed.

Case presentation 1: A 5.5 y.o. girl presented to endocrinologist with complaints on emotional lability symptoms and hyperactivity disorder. Diffuse euthyroid goiter was diagnosed, and she received iodine supplements within 6 months without improvement of her condition. Hereafter fT4 was measured, and raised level (5.7 ng/dl [normal range, 0.6-1.1]) was revealed on a background of normal TSH. Iodine supplements were cancelled and after 2 months repeated measurements of fT4 and fT3 showed their permanent increased levels (ranged 1.4-2.4 ng/dl and 5.1-6.2 pg/ml [normal range, 2.5-3.9], accordingly) on a background of normal TSH and negative TSH-receptor antibodies (TRAb), Ab-TPO and Ab-TTG levels. Detailed evaluation revealed similar changes of thyroid function tests in father (normal TSH level, increased fT4 and fT3 levels (2.9 ng/ml and 7.4 pg/ml accordingly), however no changes in mother's and sister's tests. Subsequent genetic analysis of the patient and family confirmed RTH with THRB p.Arg438Cys, c. 1312C>T variant in the proband and his father.

Case presentation 2: A 13.4 y.o. Caucasian boy presented to endocrinologist with complaints of growth retardation since 2 years of age. According to the results of examination his height was 140 cm (-2.4 SD), repeated hormonal test revealed a constantly elevated level of fT4 1.65-2.14 ng/ml [normal range, 0.7-1.46], T4 14.9 mcg/dl [normal range, 6.4-13.4], fT3 4.15-5.16 ng/ml [normal range, 2.4-3.9] on a background of normal TSH, Ab-TPO, Ab-TTG and TRAb. Detailed examination showed similar changes of thyroid function in his father (elevated fT4 [1.73 ng/ml], and normal TSH, fT3 and T4). Clonidin test and measurement of IGF-1 level didn't confirm GH-deficiency in the child. Subsequent genetic analysis of the patient and his parents confirmed FDH with ALB p.Arg218His, c.725 G>A variant in the proband and his father.

Conclusion: Patients with euthyroid hyperthyroxinemia should undergo genetic testing due to the similar clinical presentation of RTH and FDH syndromes.

Volume 92

58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

European Society for Paediatric Endocrinology 

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