Endocrine Abstracts

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 35^R) 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.