ACTA ENDOCRINOLOGICA (BUC)

Background. Patients with Down’s syndrome have an increased prevalence of\r\nautoimmune thyroid diseases.\r\nAim. The purpose of this study was to assess the prevalence of thyroid dysfunction in\r\nchildren with Down’s syndrome (DS) and to find the best screening and management strategy\r\nin this group of patients.\r\nMethods. A total of 63 DS patients aged between 5 days and 18 years from our University\r\nHospital, were recruited. In all patients, serum free T4, and TSH were measured, the presence\r\nof congenital anomalies and specific clinical findings were assessed. Karyotype was performed\r\nin each case.\r\nResults. Sixty patients showed total 21 trisomy. Mosaicism was present in other 2 cases\r\n(3.17%) and only one girl had 47,XXder(14;21)(q10;q10)+21.\r\nHigh TSH level was seen in 24 out of 63 cases (38 %) of which 1 (1.5%) had congenital\r\nmixedema while the other 23 had a high TSH level. According to TSH levels, these 23 patients\r\nwere divided into two groups: the first group with TSH between 6-10 microUI/mL (17 patients-\r\n27%), and the second with TSH>11 microUI/mL (6 patients - 9.5%). Thyroid ultrasound was\r\nalso performed and antibodies to thyroid peroxidase, anti-TPO, were measured, when TSH\r\nlevel was high. In all cases thyroid ultrasound showed a normal located thyroid gland. In the\r\ngroup of patients with TSH level above 11 microUI/mL, two had congenital heart disease, but\r\nnone of them had gastrointestinal disease.\r\nHyperthyroidism was not observed in any of the cases.\r\nConclusions. Children with DS have high prevalence of thyroid dysfunction and\r\nbiochemical screening of this is essential. Subtle thyroid abnormalities were the most common\r\nfinding in DS.

Background. Mixed gonadal dysgenesis is a disorder of sex development associated with a numerical or sex chromosome abnormality. There is no association between the degree of mosaicism and the phenotype. Case report. An 11 years old girl was admitted for excessive weight [BMI: 31.55 kg/m2 (+ 3 SD)]. The family medical history was positive for overweight and obesity, type 2 diabetes mellitus, but no evidence of gonadal disorders or infertility was found. Physical examination revealed Turner Syndrome stigmata, acanthosis nigricans, excessive adipose tissue, normal female type external genitalia, Tanner pubertal stage 0. Even though the patient’s main complaint was the excessive weight, the most striking feature was the short stature. Further evaluation showed decreased IGF-1 level, delayed bone age, GH deficiency and Impaired Glucose Tolerance. The genetic analysis performed showed 45, X0 (20%)/ 46, XY (80%) karyotype with positive SRY gene. The histopathological examination of bilateral gonad biopsy confirmed the presence of ovarian hypoplastic tissue in the left gonad and ovarian tissue suggesting gonadoblastoma of the right gonad. Conclusion. Correct diagnosis and management of these patients needs a multidisciplinary team effort. The benefit of GH treatment therapy was demonstrated in the majority of 45, X0 / 46, XY short stature patients.

Background. The concept of NE differentiation in prostate carcinoma has two major aspects: prostate tumors with\r\nprimary NE differentiation and NE differentiation occurred during hormonal therapy for prostate adenocarcinoma, with\r\nthe extreme case of tumor dedifferentiation into a NE hormone resistant carcinoma.\r\nMaterial and method. The patient, 62 years old, with a history of poorly differentiated prostate adenocarcinoma,\r\nhormonally treated with the decrease and then constant maintenance of serum PSA level to 0.01 ng/mL was admitted in the hospital, 8 years after prostate tumor diagnosis, and 3 years after ceasing of hormone therapy, with multiple bone and liver metastases of unknown primary source.\r\nResults. The serum levels of CgA, NSE, CEA, CA19.9, serotonin were elevated. The histopathological examination\r\nof the needle biopsy fragment from a liver metastatic lesion revealed small cell neuroendocrine carcinoma. Despite the\r\nprompt chemotherapy, the disease has progressed, with the occurrence of brain metastases and the patient?s death\r\n6 months after detection of the metastatic disease.\r\nConclusions. The present case confirms the diagnostic difficulties in llymetastatic undifferentiated small cells\r\ntumors, and on the other hand, draws attention to the possibility of NE dedifferentiation as a result of hormone\r\ndeprivation in patients with prostate cancer.