ACTA ENDOCRINOLOGICA (BUC)

Bardet Biedl syndrome (BBS) is a rare autosomal recessive disease, characterized by clinical and genetic heterogeneity. Many genes are involved. BBS seems to be\r\ndifferent from Lawrence Moon BBS, although they share some clinical symptoms. The main clinical signs are obesity, pigmentary retinopathy, kidney malformations, and hypogenitalism. Our aim is to report a case with typical\r\nretinis pigmentosa, hypergonadotrophic hypogonadism and cerebellum cyst. Case report. A man aged 18 was referred for obesity and blindness. His family history was marked by obesity and diabetes mellitus type II. His medical history began very soon, as he was born with polydactyly, then he became obese and had difficulty to learn and to see. His blindness was progressive, and his puberty was delayed.\r\nClinical and biological exams showed: severe android obesity (BMI = 40kg/m?, waist circumference = 130cm), pigmentary\r\nretinopathy, small testes with high FSH = 17 mU/mL (1-8), and normal LH = 6.13 mU/mL (0.6-12)], empty sellae, cerebellum cyst, renal malformations, and signs of chronic infections. He did not have any spasticity or ataxia.\r\nGenetic study was not done. Conclusion. In this case, all features argued for typical BBS, except for testicular\r\ninsufficiency which is classically described as hypogonadotrophic. Infections should be treated vigorously to avoid renal insufficiency.

Aim. The purpose of this study is to investigate the effect of self-monitoring of blood glucose (SMBG) on glycemic control in insulin-naive type 2 diabetic patients comparing SMBG plus self-regulatory behavioral education, and SMBG plus individual education. Methods. Participants with glycated hemoglobin A1C (HbA1C) of 7.5-12% were enrolled in this 24-week, prospective study. Forty-two and forty participants received SMBG plus selfregulatory behavioral education, and SMBG plus individual education, respectively. The glycemic and behavioral attitudes outcomes were evaluated. Results. The A1C level decreased in both groups, from 9.41± 1.7% to 7.84± 0.83% in the SMBG plus self-regulatory behavioral education and 9.62 ±1.08% to 9.09± 1.1% in the SMBG plus individual education. However, the postprandial glucose (PPG) level sustained more significant decreases from 277.1 ±80.1 to 175.7 ±53.9 mg/dL in the SMBG plus self-regulatory behavioral education, and from 261.2 ±80.5 to 221.6 ±41.2 mg/dL in the SMBG plus individual education. The frequency of PPG monitoring increased from 0.1 ± 0.81 to 3.46 ± 2.81 times/week in SMBG plus self-regulatory behavioral education, whereas it increased from 0.13± 0.78 to 1.01± 0.89 in SMBG plus individual education. The amount of carbohydrates consumed per day decreased and the amount of physical activity performed per week increased significantly in self-regulatory behavioral education group. Conclusions. The use of this model of SMBG plus self-regulatory behavior education appears to have resulted in superior improvements in glycemic control and behavioral outcomes compared with those achieved by SMBG plus individual education.

Medullary thyroid carcinoma (MTC) arising from aberrant tissue is almost unknown. Our aim is to report our first case.\r\nObservation. A woman, aged 46, was operated on for multinodular goiter with lateral mass considered as a metastasis. Thyroid surgery was well supported. The surgeon discovered a median thyroid which seemed normal, and a lateral mass totally separated from the thyroid. The pathologist who did very thin slices of the whole thyroid excluded the malignancy, but in the lateral tissue, he discovered a typical MTC with positivity to thyrocalcitonin (TCT), chromogranine A, and thyroid transforming factor1 antibodies. That lateral tissue did not contain any thyroid or lymphoid cells. The tumoral tissue was sent to another\r\npathologist who confirmed the diagnosis. In post operative period TCT was normal (mean value=4.5pg/mL, N<13), but urinary metanephrines were slightly increased (1.32\r\nmg/24h, N=1). Radiological explorations (except MIBG scintigraphy not done for low socioeconomic conditions) failed to show any pheochromocytoma. One year later that one was found by CT scan, and our patient was classified as multiple endocrine neoplasm type 2A. Laparoscopic surgery\r\ndone under thiopental and curare was uneventful, histological exam confirmed the pheochromocytoma. Genetic screening for RET proto-oncogene was negative arguing\r\nfor a sporadic case. Conclusion. MTC located in\r\naccessory thyroid is a scientific curiosity which can be mistaken with a lymph node metastasis. In our case a meticulous exam of the median thyroid and the lack of thyroid and lymph cells in the lateral mass were\r\nagainst the metastasis.