ACTA ENDOCRINOLOGICA (BUC)

Background. Aortic dissection is a life-threatening disorder and up to 20% of patients die before receiving medical care. Marfan syndrome is noted in 5–9% of individuals who suffer from aortic dissection. Case presentation. We present the case of a 53 years old woman, with undiagnosed Marfan syndrome, addressed to our clinic complaining about thoracolumbar pain appeared 4 days ago, after a trauma. According to the revised Ghent criteria for the diagnostic of Marfan syndrome she had a positive family history and more than 7 points of systemic findings. She was also diagnosed with extensive aortic dissection and right pneumothorax. Because of the cachexia and important scoliosis, the operative and post operative risk was high and we decided a medical management. She remained haemodynamically stable, with a false lumen partially trombosed, and was discharged home after 23 days. Discussion. The particularity of our case represent the diagnostic of Marfan syndrome after the appearance of a vital risk vascular complication – aortic dissection, the emergency surgical intervention being limited by the clinical and prognostical particularities of these two comorbidities. Conclusion. Aortic dissection in Marfan syndrome represents a diagnostic and therapeutic challenge for interdisciplinary practitioner physicians.

Chromosomal aberrations can be generally classified in two main categories: structural abnormalities (such as translocations, deletions or duplications) and numerical changes or aneuploidy. Aneuploidies are considered the most frequent chromosomal defects occurring in humans and the leading cause of miscarriage and congenital birth defects. Here we present the case of an 8-year old girl with remarkable prenatal history, low birth weight and length associated with increased height in early childhood and developmental delay. On chromosomal analysis a rare form of aneuploidy involving the sex chromosomes has been found in all cells: 48, XXXX. Tetrasomy X (48,XXXX) is a sex chromosome aneuploidy condition in which females have two extra X chromosomes compared to the 46,XX karyotype in typical females. There is significant phenotypical variability for tetrasomy X syndrome and many cases escape detection therefore the prevalence for tetrasomy X is unknown. This disorder is commonly associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism, reminiscent of Down syndrome. Genetic counseling is recommended. Although no cure exists specifically for this condition, the treatment of the symptoms can be efficient. Individuals should undergo medical and psychological evaluations.

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.

Xanthomatosis is a rare disease; predominantly, it is a response to altered lipid levels in the form of a mucocutaneous granulomatous proliferative disorder of unclear origin. When blood lipid levels exceed the normal values, the macrophages around the blood vessels may result in xanthoma. The present case was observed in a 55-year-old woman who suffered from Cushing’s disease and had atypical xanthomas in her oral mucosa that were diagnosed by histopathological analysis and were associated with normal serum cholesterol levels.

A 40-year-old woman has been followed up for 19 years by the\r\nendocrinology clinic with the diagnoses of Addison disease and primary hypothyroidism. During the most recent\r\nvisit of the patient, she complained about fatigue and malaise with pretibial edema. In albumin analysis: 2.2 gr/dL and 5.8 g/day proteinuria were detected. In terms of\r\nnephrotic syndrome etiology, renal biopsy was performed and it was considered as minimal change disease. The dose of 7.5\r\nmg/day methyl prednisolone was potentiated to a dose of 1mg/kg/day. During her control, the proteinuria did not regress and 150 mg/day cyclophosphamide was added to the treatment. During the control, her proteinuria regressed from 5.8 r/day to 1.95 mg/day.

Background. Small-cell lung carcinoma is a neuroendocrine tumor that exhibits aggressive behavior, rapid growth, early spread to distant sites and frequent association with paraneoplastic syndromes, the most frequent being the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Case report. We present the case of a 66 year-old woman who presented to the Emergency Department for a syncope preceded by vomiting. She had onemonth history of progressive confusion, disorientation, drowsiness, and generalized malaise. At presentation, the biochemical profile showed normal hemogram values, severe hyponatremia (seric sodium level 120 mg/dL), low plasma osmolality (<275 mOsm/ kg). The blood tests for kidney, thyroid and adrenal functions were in normal limits. There was no evidence of congestive heart failure or nephrotic syndrome. A diagnosis of SIADH was made. Because of a high suspicion for lung cancer, chest computed tomography (CT) was done, together with neck, abdominal and pelvic CT scan, all showing normal data, excepting necrotic lymph nodes in the lower right carotid space and right paratracheal. Right laterocervical lymph node biopsy was done. The histopathological and immunohistochemical result showed lymph node metastasis of a neuroendocrine small cell carcinoma, most probably with broncho-pulmonary origin. Conclusion. The case is interesting due to long term absence of any respiratory symptom, absence of identification of pulmonary tumor, despite repeated CT scans, the only clinical manifestations being related to SIADH. Also, it emphasizes the importance of early recognition of SIADH, which may be the only initial manifestation of a neuroendocrine small cell carcinoma.

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.

Background. The modifications of blood pressure and lipid metabolism, the decrease of heart contractility and the increase of systemic vascular resistance that accompany hypothyroidism are caused by the decreased action of thyroid hormones. Objective. The purpose of this study is to evaluate, using echocardiography, the changes of the heart functional parameters in patients with untreated thyroid dysfunctions. Pacients and Methods. Study group included 348 patients for an evaluation of cardiovascular and thyroid status. The control of the thyroid condition was conducted using measurements of the FT3, FT4 and TSH levels, echocardiographic measurements defining the parameters of the function of the left ventricle. Results. The study group was divided into subclinical hypothyroidism (SH, 75 cases), overt hypothyroidism (OH, 123 patients) and normal thyroid function (C, 150 patients). TSH values decreased (from 5.8±15 mUI/L to 2.28±0.63 mUI/L in SH and from 20.23±17.33 mUI/L to 4.24±0.24 mUI/L in OH) after one year of treatment while fT4 and fT3 increased. The parameters obtained revealed significant decreases of the E/A ratio in both groups with hypothyroidism. The isovolumetric relaxation time was significantly higher in SH and OH as compared to the control group (C: 112.50±35.45 msec, SH: 118.75±16.52 msec p<0.05, OH: 130±41.83 msec p<0.001). In addition, the tissue Doppler revealed significant decreases of the E’/A’ ratio, measured septally and laterally in the group with overt and subclinical hypothyroidism. Conclusion. In hypothyroidism the systolic and predominantly diastolic function of the left ventricle are impaired. These dysfunctions are reversible under L-T4 substitutive treatment.

We describe a Turkish woman with the association of classical cutaneous features of EDS, extensive cerebral calcification and multiple emphysematous bullae. A 20-year-old woman with a 8-year history of EDS with mild chronic lung disease presented with headache. Physical examination revealed fragility and hyperelasticity of the skin and hypermobility of the joints. A chest computed tomography (CT) showed bilateral paraseptal emphysematous areas and bilateral bullous disease. A cranial CT revealed bilateral extensive calcifications in the cerebral and cerebellar hemispheres and basal ganglia with periventricular and subcortical white matter. Cerebral calcification should be carefully searched for using MRI in patients with EDS and neurological symptoms, such as headache.

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