ACTA ENDOCRINOLOGICA (BUC)

Laparoscopic adrenalectomy is currently considered the gold standard for adrenal tumors up to 6 cm, and although with far less morbidity than the open alternative, when it comes to its complications we should not look away. The case concerns a 51-year old obese male that underwent left laparoscopic adrenalectomy for incidentaloma and developed pancreatic tail fistula. Without an evident pancreatic lesion during surgery and an uneventful early postoperative course the patient was discharged only to return 4 days later with respiratory symptoms and mild abdominal discomfort in the left upper quadrant. The CT scan diagnosed a left subphrenic fluid collection and left basal pneumonia, thus the patient underwent laparoscopic reintervention for drainage of the pancreatic fluid collection and received conventional antibiotherapy for pneumonia. The patient was discharged in good condition with the drainage tube in situ. The drainage tube was extracted 14 days later.

Background. Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition. Case study. This case is a 5-year and 11-monthold female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated. Conclusion. The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.

Background. Mosaic karyotype 45,X/46,XY related mixed gonadal dysgenesis. Aim. To report a case of mosaic karyotype and petroclival meningioma. Methods. Presentation of a clinical case with comments. Results. The case of a 37-year-old woman mosaic karyotype - 45,X/46,XY, infertility, virilisation, Turner syndrome-like phenotype, primary amenorrhea, the absence of labia majora and petroclival meningioma. Concentrations of dehydroepiandrosterone sulphate (DHEAS), testosterone, luteinizing hormone (LH) and follicular stimulating hormone (FSH) were increased indicating hypergonadotropic hypogonadism. Low and high dose dexamethasone suppression tests demonstrated incomplete suppression of DHEAS concentration without connection between pulses of LH/FSH and DHEAS. Response to adrenocorticotropic hormone (ACTH) was normal. The morning/evening concentration ratio of DHEAS was very low in comparison with cortisol, ACTH and testosterone. Head magnetic resonance imaging (MRI) demonstrated petroclival meningioma without any adrenal or ovary abnormality. Menstruation started after treatment with 2 mg of estradiol. At control visit 1.5 years later she had no complaints. MRI did not demonstrate any signs of tumour progression. Conclusions. The main lesson learned from this case is that in searching the DHEAS secreting tumours one can find unusual cases with sustained high DHEAS and lack of confirmations of polycystic ovary syndrome, adrenal or ovary tumours using available ultrasound, CT and MRI.

Context. Mealtime insulin bolus is traditionally administered before meals in children with type 1 diabetes (T1D). Controlled studies on the use of pre-and postprandial insulin bolus have shown variable results. There are no realworld studies on postprandial bolusing of insulin in young children with T1D. Methods. Children with T1D aged <7 years were grouped into preprandial (Group 1) or postprandial (Group 2) groups according to the practice of prandial insulin use. Their retrospective data on mean glycosylated hemoglobin (HbA1c), hypoglycemic events, and diabetic ketoacidosis (DKA) episodes were compared. Results. Forty-four children (mean age 4.1±1.3 years, range 2-7 years) with mean diabetes duration of 2.0±0.7 years (range, 1-4 years) were identified; 23 (52.3%) belonged to Group 1 and 21 (47.7%) to Group 2. There were no differences in the mean HbA1c levels, mean hypoglycemic events, and DKA episodes between the two groups during a mean follow-up duration of two years. Conclusion. Young children with T1D administered insulin bolus during or immediately after meals showed similar long-term glycemic control and diabetesrelated adverse event profile compared to the premeal timing of insulin bolus. Larger real-world studies are needed on flexible insulin bolus timing in young children with T1D.

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Context. Hepatitis C and diabetes represent important health problems globally. The new-onset diabetes after transplantation is a particular entity that appears due to the use of immunosuppression among transplanted patients. Objective. We aim to describe the clinical and biological aspects of severe hyperglycemia in a kidney transplant recipient undergoing Interferon-free therapy for chronic hepatitis C, discussing the interference of different factors with the glucose metabolism. Design. The occurrence of diabetes in a patient with history of renal transplantation and Interferon-free treated hepatitis C was studied from both clinical and paraclinical points of view. Subjects and methods. When presenting to the hospital, extensive blood tests were performed on the patient, revealing significant hyperglycemia and an elevated level of blood tacrolimus. Creatinine clearance was calculated. ECG presented T-wave alterations. Intensive insulin protocol was applied, the case being managed in a multidisciplinary approach. Results. Blood glucose and tacrolimus were slowly normalized, under therapy. The antiviral treatment was continued, with the achievement of sustained virologic response. Conclusions. Diabetes mellitus can have many causes, hepatitis C and transplantation both having an impact on glucose metabolism. The association of the three entities should be carefully managed, due to its enhancing effect on morbidity and mortality.

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.

Background. Phosphaturic mesenchymal tumor (PMT) is a recently described concept\r\nunifying the mesenchymal tumor associated with oncogenic osteomalacia. Most of the cases of\r\nPMT occur in the extremities and appendicular skeleton. PMT occurring in the paranasal\r\nsinuses is extremely rare with only a few cases reported in the available literature.\r\nCase. A 51-year-old man presented with a long history of bone pains. Biochemical\r\nand radiologic investigations, including skeletal survey showed features of osteomalacia.\r\nPositron emission tomography (PET) scan showed a small tumor in the left nasal cavity,\r\nethmoid and sphenoid sinuses. Histopathological examination of the excised tumor showed\r\nfeatures of a phosphaturic mesenchymal tumor- mixed connective tissue variant. Excision\r\nof the tumor was associated with marked improvement in the biochemical parameters and\r\nremarkable clinical relief.\r\nConclusion. Phosphaturic mesenchymal tumor is a rare cause of osteomalacia and is\r\nusually associated with small tumors, which escape detection for long periods. Its occurrence in\r\nthe paranasal sinuses needs to be kept in mind and evaluated to allow for timely detection of the\r\ntumor with subsequent surgical excision and clinico-biochemical relief.

Background. The involvement of IGF 1 in renal pathophysiology has been studied in many details in type 1 diabetes but the role of IGF 1 in early nephropathy in patients with type 2 diabetes is less well characteristic. Objective. To determine whether serum IGF1 and GFBP-1 levels were different between patients with and without diabetic nephropathy and also to investigate the association between them and insulin resistance. Subjects and methods. Insulin resistance (HOMA-IR), IGF 1 and IGFBP-1 were measured in 20 type 2 diabetic patients with nephropathy, 20 type 2 diabetic patients without nephropathy and 15 control subjects. Results. Serum IGF 1 in diabetic nephropathy (333.3 +/-16.44 ng/mL) was significantly higher than in both diabetic patients without nephropathy (133.16 +/- 3.43 ng/mL) and in control subjects (174.33+/-6.23) (P <0.001). A significant negative correlation was observed between IGF 1 and HOMA, (r = -0.72) in diabetic patients without nephropathy and a positive correlation in diabetic nephropathy patients (r = 0.49). Conclusion. High IGF 1 and insulin levels in diabetic nephropathy patients in addition to the significant positive association between IGF 1 and HOMA suggest that both IGF 1 and insulin resistance may play major role in early renal changes in type 2 diabetes.

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