ACTA ENDOCRINOLOGICA (BUC)

More than one century passed from the first proposed classification of diabetes in two phenotypes which survived in all the official classifications of WHO, despite the repeated suggestion that, in the light of the new biochemical, immunological and genetic data, the old black and white view on diabetes must be challenged. The time for a reclassification is now!

Secretion is a basic process in all cells and is involved in important functions such as the release of hormones from endocrine and neuroendocrine cells, in neurotransmission, the release of digestive enzymes and acid secretion, etc, having an important role in the physiology of many metabolic processes of tissues and organs. Contrary to an accepted belief of more than 60 years that the final step in the process of secretion is the total incorporation of secretory granule membrane into the cell plasma membrane for the delivery of secretory product to the outside of the cell, studies made in the last 25 years demonstrated a completely different molecular mechanism of secretion, this being a highly regulated process. Discovery of a new cellular structure, the “porosome”, in principal with the aid of atomic force microscopy (AFM) and transmission electron microscopy (TEM), and the discovery of SNARE (Soluble NSF Attachment Protein REceptor) and SNAREs-induced membrane fusion, and the regulated expulsion of secretory product via secretory vesicle swelling with Aquaporin 1 (AQ1) and Ca2+ implicated, has finally provided us with an understanding of cell secretion at the molecular level. The current study was undertaken to present this new concept regarding the cellular process of secretion, using original illustration of our researches.

for non-functioning pituitary macroadenomas (NFMAs) is still under debate. Aim. To appreciate the best timing for postoperative high voltage radiotherapy (hRT) in different type of NFMAs (classified using immunohistochemistry (IHC)). Subjects and Methods. Of 97 patients with a remnant (>1 cm) and IHC for anterior pituitary hormones, 41 patients (groups A & B) were submitted to hRT and followed up at least 5 years. RT was performed in 20/41 patients (Group A) within the first year after surgery, 21/41 patients (Group B) afterwards while in control group C, 56 patients were followed up without hRT. The progression of postoperative remnant was defined as a change of minimum of 25% of any diameter (transversal or vertical) by serial imaging studies. Results. The IHC of NFMAs revealed the following: 38 (39%) null cell, 29 (30%) gonadotropinomas, 12 (12%) silent plurihormonal, 11 (11%) silent corticotroph and 7 (7%) silent GH/PRL adenomas. Immunoreactive adenomas have relapse rate higher than null cell adenomas (ACTH> GH/ PRL> FSH/ LH> null cell) with a significant rate for silent ACTH 6/8 (75%). The null cell adenoma relapse rate was 6/23 (26%), p<0.009 in group without hRT. The relapse rate was significantly lower in group AB with hRT than in group without RT (p=0.025), at five years. Immediate hRT (applied within in first years) improved the control of the tumour growth in 90% (18/20) cases. In the group A, 10 % (2/20) patients relapsed than 24% (5/21) patients in group B and 39% (22/56) patients, Group C. Conclusion. An optimal time for radiotherapy is within the first year after the partial surgical removal of NFMAs, particularly if a large amount of residual tumour remains. Patients with silent corticotroph adenoma require special attention.

Objective. Hypothyroidism accelerates atherosclerosis and thyroid hormone replacement inhibits this progression. Platelet activation and aggregation play major role in the pathophysiology of atherothrombosis. Mean platelet volume (MPV), a determinant of platelet function, is a newly emerging risk factor for atherosclerosis. The present study was designed to evaluate levels of MPV before and after the levothyroxine (LT4) treatment in patients with overt hypothyroidism. Design. The study included 30 Hashimoto’s thyroiditis patients with overt hypothyroidism and 20 healthy control subjects. Hypothyroid patients were given LT4 replacement therapy. Fasting glucose, lipid levels and blood counts were assessed before and after the maintenance of euthyroidism. Results. Fasting glucose, platelet count and all lipid parameters were similar between the two groups. The mean MPV level of hypothyroid patients was higher than of the control group (p<0.01). A significant decrease in the mean MPV level was detected after the maintenance of euthyroidism with LT4 treatment (p<0.05). Conclusion. This study suggests that patients with overt hypothyroidism tend to have increased platelet activation. This activation may cause increased risk of atherothrombotic complications that may be reversed by treatment of hypothyroidism.

Background. Paraganglioma develop from embryological neural crest cells from the base of the skull, mediastinum, retroperitoneum, urinary bladder and scrotum. The most common location of the retroperitoneal form is situated between the aorta and vena cava, at the level of left renal vein, or more distally, to the aortic bifurcation. The care of patients with paraganglioma is a challenge for many physicians and surgeons because of its clinical features and therapeutic implications. Case presentation. We report the case of a 22-years old female patient with symptomatic retroperitoneal paraganglioma who was successfully treated with complete surgical excision. The pathological report confirmed the presence of chromaffin tumours. Postoperative care was uneventful, the patient being discharged after 10 days. Follow-up evaluation showed no recurrence after 4 years. Conclusion. Although a very rare condition, retroperitoneal paraganglioma has to be considered in the differential diagnosis of retroperitoneal tumours. Complete surgical resection is crucial for treatment and histological assessment as these tumours are potentially curable if they are diagnosed correctly. In our experience, the best surgical approach is open surgical excision for large masses located in the interaortocaval region, with a clear operatory field and good control over the major blood vessels. Follow-up is strongly recommended.

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The spectrum of iodine deficiency disorders (IDD) during fetal life includes increased perinatal mortality, increased\r\ninfant mortality, stillbirths, congenital anomalies, spontaneous abortions and endemic cretinism (severe mental\r\nretardation). Evaluation of the impact of iodine deficiency on perinatal mortality is justified by the presence of an increased perinatal mortality in the spectrum of IDD\r\nand highly elevated of both the prevalence of iodine deficiency and perinatal mortality in some areas (as like sub - Saharian Africa). Regarding human rights, "every\r\nchild has the right to an adequate supply of iodine to ensure his (or her) normal development"; of particular importance in this context is the right of the unborn child\r\nto an appropriate iodine intake. Whatever the roles of other factors, the available data clearly show that\r\ncorrection of iodine deficiency per se substantially decreases neonatal and infant mortality. During 2013 (ten years after implementation of universal salt iodization\r\nin Romania), we intend to evaluate median urinary iodine concentration in pregnant women from endemic goiter areas.

Background. Iodine deficiency and/or thyroid autoimmunity are the most common causes of hypothyroidism development among pregnant women. In this study, we aimed to investigate the effect of iodine consumption and thyroid autoimmunity on TSH levels and abortus. The study sample consisted of 104 patients, 79 in abortus and 25 in control groups. TSH, free T4, free T3, anti-TPO, anti-Tg, spot urinary iodine concentrations, and thyroid volumes of the cases were measured by ultrasonography. The spot urine concentration was below 100 μg/L in 93% of the cases included in the study. The TSH levels of the abortus group cases were significantly higher than those of the controls (p=0.025). The percentage of subclinical hypothyroid cases were significantly higher among the cases evaluated due to abortus compared to the control group (p<0.001). Abortus and control groups did not differ statistically with respect to the presence of autoimmune thyroid diseases (p=0.424). Spot urine iodine concentrations of abortus cases with subclinical hypothyroid were significantly lower than those with TSH levels below the defined range (p=0.001). Spot urine iodine concentrations of the cases with subclinical abortus with negative thyroid autoantibodies were also significantly lower than those with TSH levels below the defined range (p=0.017). TSH levels above 1 μIU/mL for the first trimester and 2 μIU/mL for the second trimester may be indicators of iodine nutrition in pregnancy losses.

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.