ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2008) 16 P704

Refetoff syndrome associated with other congenital diseases (case report)

Imre Zoltan Kun, Zsuzsanna Szanto, Ildiko Vicsi & Zsuzsanna Reti


University of Medicine and Pharmacy, Targu Mures, Mures, Romania.


We report the case of a 25-year-old woman (K.Cs.) hospitalized in our clinic for endocrinological investigation, presenting a spontaneous abortion 3 weeks before hospitalization. From medical history, we mention a cerebral thrombophlebitis with intracranian hypertension syndrome, appeared after oral contraceptive drug (Diane 35R) used for 5 months. The clinically asymptomatic patient presented diffuse goiter (I. gr.), overweight and virilism, without other clinical signs (pulse 68/min). The hormone determinations showed an elevated TSH-level (6.43 mIU/l, normal range: 0.44–3.45), free T4 at the upper normal limit (1.94 ng/dl, normal range: 0.8–2.0), and T3 close to the upper normal value (3.4 ng/ml, normal range: 2.02–4.43). The repeated investigations gave similar results. Based on these data and on the clinical euthyroidism, we suspected a thyroid hormone resistance syndrome. The TRH-stimulation test (200 μg i.v.) showed an increased response to thyrotropin: the basal TSH (4.63 mIU/l, normal range: 0.44–3.45) increased after 20 min to 25.69, being high also after 40 and at 60 min (24.1 and 25.01 mIU/l, respectively). This result and the negative cranial MRI excluded the possibility of a hypophyseal TSH-secreting adenoma. Similarly, the lack of clinical signs of hypothyroidism and FT4 at the upper normal limit excluded the possibility of a deficient trans-membrane transport of thyroid hormones, due to a mutation of the MCT8-gene (mono-carboxylate transporter-8). At the same time, this syndrome has been described only in the men, women being just carriers of the mutation. The T3 suppression test and other laboratory examinations are in course. Besides the Refetoff syndrome the patient was diagnosed with catastrophic antiphospholipidic syndrome (incomplete form, having only 2 criteria present), although the levels of antibodies weren’t high (IgG anti-cardiolipin antibody, anti-DNAds, antiSm/RNP antibody, cryoglobulines absent). Further investigations detected a congenital hypercoagulability syndrome, too.

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