Serum lipid and leptin concentrations in hypopituitary patients with growth hormone deficiency

OBJECTIVE: To investigate the effects of growth hormone (GH) deficiency on serum lipid and leptin concentrations in hypopituitary patients taking conventional replacement therapy and to determine the relations between leptin and gender and anthropometric and metabolic variables

Nephropathy and retinopathy in type 2 diabetic patients living at moderately high altitude and sea level

Background: High-altitude-induced hypoxia results in various diseases, such as chronic mountain sickness and high altitude retinal edema, and may affect severity and incidence of some cardiovascular diseases. In order to evaluate the effects of moderately high altitude on diabetic nephropathy and retinopathy, a cross-sectional study was planned. Material Method: Long-term type II diabetic residents of sea level (n=75, 38 male, 37 female, mean age 51.9 ± 10.5 in Trabzon and Zonguldak cities) and moderately high altitude (h=1,727 m, n=73, 28 male, 45 female, mean age 48.3±12.1, Van city) were compared. Results: No difference was observed in terms of age, gender, diabetes duration, body mass index, smoking, systolic, diastolic, and mean arterial blood pressure values, serum glucose levels, cholesterol, high-density lipoprotein (HDL)-cholesterol, low-density lipoprotein (LDL)-cholesterol, hemoglobin, HbA1C, hypertension control, or blood pressure medications and retinopathy incidence. Mean 24 h protein excretion (210.0±139.9, 127.8±112.1 mg; P=0.00), proteinuria prevalence (57.5% versus 33.3%, p=0.003), and serum creatinine levels (1.04±0.22 versus 0.84±0.21, p=0.00) were significantly higher in the highlanders, glomerular filtration rate (GFR) was significantly lower in sea level (SL) patients (90.9±26.5 versus 83±21.1, p=0.05). Conclusion: Tendency to diabetic nephropathy as indicated by higher proteinuria and creatinine levels is increased among type 2 diabetic patients living at moderately high altitude. Prospective studies are needed to confirm these findings

Coexistence of subacute thyroiditis and renal cell carcinoma: a paraneoplastic syndrome

RENAL CELL CARCINOMA IS CHARACTERIZED by varied manifestations, which include unusual metastatic sites and paraneoplastic and vascular syndromes. We describe the case of a 57-year-old man who presented with high fever, weight loss, palpitations and a tender goitre. We suggest that, in this patient, subacute thyroiditis manifested as a paraneoplastic syndrome of renal cell carcinoma

Clinical laboratory findings and results of therapy in 55 patients with Cushing's syndrome

In this study, 55 patients with Cushing's syndrome (CS) (50 female, 5 male; mean age 34+/-12.3 yr) who attended our clinics between the years 1983 and 2000 were retrospectively evaluated for clinical and laboratory features and modalities and results of therapy, due to a few similar studies over the last ten years. Cushing's disease was diagnosed in 39 patients (71%), adrenal adenoma in 13 patients (23.6%) and adrenal carcinoma in 3 patients (5.5%). Centripedal obesity, moon face, hypertension, hirsutism and purplish stria were the most frequent findings. Loss of normal serum F circadian rhythm was found in all patients with CS. The overnight 1 mg oral dexamethasone suppression test and low-dose dexamethasone suppression test (LDDST) yielded 100% and 100% diagnostic sensitivity for CS, respectively. Sensitivity and specivity of the high-dose dexamethasone suppression test (HDDST) in distinguishing Cushing's disease was found to be 82% and 100%, respectively. All of the patients with adrenal CS were not suppressed with HDDST. Sellir CT and/or MRI accurately identified the tumor in 58% of these patients. Recurrence was observed in 3 (11%) of the 28 patients with Cushing's disease, treated by transsphenoidal adenomectomy. Recurrence was diagnosed 1.5, 3 and 6 yr after the operation in these 3 patients. One patient had residue tumor. In our case series, bilateral adrenalectomy plus pituitary irradiation achieved the highest remission rate (100%) in Cushing's disease. In 2 out of 4 patients (50%) treated by left adrenalectomy associated with pituitary irradiation, recurrence was observed. Panhypopituitarism due to tumor apoplexy was observed in one of the patients with Cushing's disease. All of the patients with adrenal CS, the tumor was accurately localized with imaging methods before the operation. The appropriate operative procedure resulted in complete remission in patients with adrenal adenoma. Consequently, Cushing's disease was the most common form of CS. The overnight 1 mg oral DST and 24-h urine free IF excretion (UFC) as screening tests, 2-day LDDST as diagnostic test and 2-day HDDST as differential diagnostic test were good studies. More successful outcomes have been achieved in treatment of Cushing's disease with the development of pituitary surgery in the recent years, as well as in our case series. Surgery is also curative for adrenal adenoma patients. Survival remains poor among carcinoma patients. ((C))2003, Editrice Kurtis

Ret proto-oncogene mutations in apparently sporadic Turkish medullary thyroid carcinoma patients: Turkmen study

Objective: Medullary thyroid carcinoma (MTC) frequently occurs in a sporadic form, but a substantial number of cases are hereditary and appear as part of the multiple endocrine neoplasia type 2 (MEN2) syndromes. Germline mutations in ret proto-oncogene have been shown to be the underlying cause of MEN2 syndromes. Design: We carried out a multi-center study that aimed to perform mutational analysis of so called sporadic MTC patients. Methods: Fifty-six MTC patients verified by histopathologic examination were subjected to genetic analysis. Exon 10, 11, 13, 14, 15 and 16 of the ret gene were analyzed by DNA sequencing and restriction enzyme digestion method. Results: Among 56 apparently sporadic MTC patients, we identified 6 (10.7%) ret germline mutation carriers. Three individuals carried mutations at codon 634 in exon 11, one at codon 618 in exon 10, and two at codon 804 in exon 14. Identification of the predisposition gene mutation has allowed DNA-based strategy for direct mutation detection in patients with apparently sporadic MTCs. A substantial number of patients with apparently sporadic MTC. carried germline mutations and 50% of their first degree relatives are expected to have or to develop MTC and/or other endocrine tumors. Conclusions: These results indicate the importance of careful genetic surveillance of any patient with apparently sporadic MTCs

Clinical characteristics and genetic screening of an extended family with MEN2A

MEN-2A is characterized by medullary thyroid carcinoma (MTC) with pheochromocytoma and sometimes parathyroid adenoma. In affected members of the family, the risk of MTC is about 100%. Biochemical screening allows tumors to be detected early but even at this stage treatment is not always curative. Missense mutations in exon 10 and 11 of the RET proto-oncogene are associated with MEN2A. Early detection of this mutation by DNA analysis allows the identification of the carriers of the gene. We performed genetic screening in 88 members of an extended family with MEN2A and found 18 members positive for RET mutation (Cys634Gly). Only three of these 18 RET positive cases had a previous diagnosis of medullary cancer and/or pheochromocytoma. Up to now, 12 of the RET positive cases have undergone thyroidectomy. There was extended disease with cervical lymph node metastasis in 6 of them, bilateral medullary microcancer in 3 and c-cell hyperplasia in the remaining 3. Three of the 18 RET positive patients had also pheochromocytoma. Primary hyperparathyroidism was present in only one patient. The mean age of diagnosis of medullary cancer was between 25-50 yr and mean age of death was between 35-95 yr in affected members of the family. The family had many other affected members in other cities in Turkey and in other countries throughout the world from Australia to the Netherlands. So this family is perhaps one of the most extended families with MEN2A. (C) 2002, Editrice Kurtis