ACTA ENDOCRINOLOGICA (BUC)

We present the case-report of a 56 years-old woman with hypothyroidism due to autoimmune thyroiditis. The family history was positive for biopsy proven celiac disease (CD) in her daughter. The patient declared gluten-containing diet and was completely asymptomatic regarding gastrointestinal tract. The serological screening for CD reflected an activity of the disease by the presence of antiendomysial antibodies (EMA). Consequently, an upper gastrointestinal endoscopy was performed and biopsy specimens were obtained. The standard histopathological examination was unremarkable for a defined CD. However, the results of immunohistological techniques showed intestinal IgA deposits compatible with early developing CD. In patients with family history of CD, even without any suggestive symptoms, high index of suspicion regarding CD should be kept even more in those associating other autoimmune disease.

Aim: to evaluate the type of surgery performed in pulmonary carcinoids.\r\nMethods. Retrospective study on database of 2282 cases of surgical patients operated\r\nin the Clinic of Thoracic Surgery between 1994 and 2004, in which 92 cases of bronchopulmonary\r\ncarcinoid tumors were included, representing 4% of lung cancers. From these 92\r\ncases, 32 were typical and 60 were atypical carcinoids, 29 women and 63 men.\r\nResults. The mean age was 39.2?18 for typical carcinoid and 51.9?13 for atypical\r\ncarcinoid. More than half of the carcinoid tumors were in 1B stage - 48 cases; the rest of the\r\ntumors were staged as: stage 3A - 20 cases, stage 2B - 12 cases, stage 4 - 5 cases, stage 3B\r\n- 4 cases and stage 1A - 3 cases.\r\nAs surgical interventions, there were performed: 63 classical lung resections, 23\r\nbronchoplastic lung resections, 5 bronchial resections without lung parenchyma and 2\r\nbiopsies: 1 lung biopsy by video-assisted thoracoscopic surgery and 1 pleural biopsy by\r\nthoracoscopy. In 9 cases of atypical carcinoids, associated surgical procedures were\r\nimposed by the tumoral extension or by the associated disorders.\r\nConclusions. The bronchoplastic and bronchoanastomotic procedures have the major\r\nrole of preserving the most of the functional pulmonary parenchyma in case of low-grade\r\nmalignancies, such as carcinoid tumors. Along the pulmonary resection, the authors consider\r\nthat mediastinal lymphadenectomy is mandatory, even in case of typical carcinoid tumors.

Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by mutations of 3-hydroxysterol –7reductase gene (DHCR7) which maps to 11q12-13 and was the first discovered defect in cholesterol biosynthesis resulting in a congenital dysmorphology syndrome. We present the case of a 46,XY newborn with ambiguous genitalia and multiple congenital anomalies (atrial septal defect, ventricular septal defect, syndactyly of the second and third toe, cleft palate, webbed neck, small fontanels, mesomelia, simian palmar crease, micrognathia, wide nasal bridge with anteverted nostrils, low set ears). Hormonal assessment performed at twelve days revealed a decreased testosterone level (0.03 ng/mL), a high estradiol level (448.8 pg/mL), normal LH (2.8UI/mL), DHEAS (86.61?g/dL), progesterone (1.34ng/mL) and 17 hydroxyprogesterone (1.08ng/mL) levels. Cholesterol was low (44mg/dL) confirming the diagnostic of Smith-Lemli-Opitz syndrome.