Congenital lipoid adrenal hyperplasia caused by a frame-shift mutation in the steroidogenic acute regulatory protein gene

Anastasios Papadimitriou, Ioanna Fountzoula, Georgia Tzortzatou, Himangshu S. Bose

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We present a female patient who, at the age of 35 days, presented with adrenal insufficiency with salt loss. Clinical and endocrinological investigation (low to normal levels of all adrenal steroids and raised ACTH) and imaging studies suggested congenital lipoid adrenal hyperplasia …

Clinical implications of molecular studies for the diagnosis of thyroid cancer

Markus Eszlinger, Kurt Werner Schmid, Ralf Paschke

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The evaluation of patients with nodular thyroid disease is focused on two main aspects, namely the exclusion of thyroid malignancy and the exclusion of hyperthyroidism in regions with borderline iodine supply. However, the identification and preoperative typing of both the substantially less frequently occurring thyroid carcinomas …

The AGT and the GNB3 polymorphisms and insulin resistance in prehypertension

Christos Maniotis, Klio Chantziara, Panagiotis Kokkoris, Dimitrios Papadogiannis, Constantinos Andreou, Constantinos Tsioufis, Georgios Vaiopoulos, Christodoulos Stefanadis

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OBJECTIVE: This study surveyed the frequencies of single nucleotide polymorphisms (SNPs) M235T AGT and C825T GNB3, and their association with insulin resistance, other biochemical markers and qualitative variables in subjects with high normal blood pressure and/or prehypertension in the Greek population …

Hypoglycaemia secondary to the secretion of pro-insulin like growth factor ii by a metastatic neuroendocrine tumour with sarcomatous differentiation

Mia Morgan, Alexandra Nanzer, Cecilia Camacho-Hubner, Gregory A. Kaltsas, John P. Monson

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A patient presented with frequent episodes of spontaneous hypoglycaemia due to a disseminated neuroendocrine tumour with sarcomatous differentiation, secreting incompletely processed pro-insulin-like growth factor II (pro-IGF-II). Although the combination of GH and glucocorticoid therapy initially controlled the hypoglycaemia …

Subcutaneous glucose monitoring with GlucoDay®: comparison of the results to those obtained with the Endocrine Artificial Pancreas

George Dimitriadis, Eleni Boutati, Athanasios E. Raptis, Erifili Hatziagelaki, Panayota Mitrou, Vaia Lambadiari, Nikolaos Tountas, Theofanis Economopoulos, Sotirios A. Raptis

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OBJECTIVE: This study was undertaken to assess the accuracy of GlucoDay® – a portable detector of subcutaneous glucose – by comparing the results to those obtained by Biostator® an established and reliable method for continuous glucose measurement in whole blood. DESIGN: Subjects with type 1 diabetes (n:6), subjects with type 2 diabetes …

A complete corticotropin releasing factor system localized in human fetal lung

Efterpi Chouridou, Maria Lambropoulou, Maria Koureta, Ioanna Balgouranidou, Evangelia Nena, Maria Simopoulou, Nikolaos Papadopoulos, Alexandros Kortsaris, Ekaterini Chatzaki

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OBJECTIVE: The Corticotropin Releasing Factor (CRF) system (neuropeptides CRF, Ucn I, II, III and binding sites CRFR1, CRFR2, CRF-BP) is responsible for stress regulation and the homeostasis of an organism. Herein we study the CRF system in human normal and pathological fetal lungs …

Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases

Stefano Stagi, Cristina Manoni, Valentina Cirello, Danila Covelli, Sabrina Giglio, Francesco Chiarelli, Salvatore Seminara, Maurizio de Martino

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The syndrome of resistance to thyroid hormone (RTH) is characterized by elevated serum free thyroid hormones (FT4 and FT3) in the presence of unsuppressed TSH levels, reflecting resistance to the normal negative feedback mechanisms in the hypothalamus and pituitary …

Emerging treatment modalities for advanced pancreatic neuroendocrine tumors

Alessandro Sindoni, Fausto Famà, Maria Gioffre-Florio, Sergio Baldari

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It was with great interest that we read the article titled “Neoadjuvant therapy for advanced pancreatic neuroendocrine tumors: an emerging treatment modality?” by I. Perysinakis et al published in the first issue of 2016 of the Journal …

Enhancing treatment of obesity by using a distracting mini-meal: a new approach to an old problem

Antonio Picarelli, Marco Di Tola, Fabio Tabacco, Mariacatia Marino, Raffaele Borghini, Tania D’Amico, Carla Lubrano, Patrizia Gargiulo

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OBJECTIVE: The management of obesity, apart from exercise, mainly involves a calorie restriction regimen. A pharmaceutical treatment is often used to improve patient compliance and diet effectiveness, although several side-effects have previously been described …

The effect of prolonged aerobic exercise on serum adipokine levels during an ultra-marathon endurance race

Nikolaos D. Roupas, Irene Mamali, Spyros Maragkos, Lydia Leonidou, Anastasia K. Armeni, George K. Markantes, Athanasios Tsekouras, George C. Sakellaropoulos, Kostas B. Markou, Neoklis A. Georgopoulos

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OBJECTIVE: To evaluate the effect of prolonged intensive aerobic exercise and acute energy deficit (180 km ultra-marathon race) on serum leptin, adiponectin, resistin and visfatin levels and their association and interaction with serum cortisol and insulin levels in highly trained ultra-endurance runners …

Effect of vildagliptin on hsCRP and arterial stiffness in patients with type 2 diabetes mellitus

Ioanna Zografou, Christos Sampanis, Eugenia Gkaliagkousi, Fotios Iliadis, Athanasios Papageorgiou, Panagiotis Doukelis, Konstantinos Vogiatzis, Stella Douma

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OBJECTIVE: To evaluate the effect of dipeptidyl-peptidase-4 (DPP-4) inhibitor vildagliptin on high sensitivity C-reactive protein (hsCRP) and arterial stiffness (AS) in patients with type 2 diabetes (T2DM). DESIGN: Sixty-four drug-naive diabetic patients, with inadequate glycemic control …

Auxologic parameters and response to 2-year therapy with recombinant human growth hormone in growth hormone deficient children with an ectopic posterior pituitary

Maria Kalina, Barbara Kalina-Faska, Katarzyna Gruszczyńska, Jan Baron, Anita Cisowska, Karolina Morawiec, Paulina Biel-Lewandowska, Ewa Małecka-Tendera

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BACKGROUND: Structural defects of the hypothalamic-pituitary area in MRI are suggested as being a more accurate marker of growth hormone deficiency (GHD) than laboratory assays. OBJECTIVE: To compare auxological characteristics in GHD children with normal pituitary (NP) function and with ectopic posterior pituitary (EPP) …

Cancer in the thyroid is not always thyroid cancer

Katherine E. Akester, Noel Somasundaram, Salvador Diaz-Cano, Ashley B. Grossman

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Most clinicians assume that a thyroid mass which appears to be malignant is most likely a tumour arising from thyroid cells. We present a case where the thyroid malignancy was associated with a degree of systemic clinical and biochemical disturbance which suggested alternative diagnoses, and in which fine-needle aspiration revealed that the patient had a thyroid lymphoma …

Low HDL-cholesterol among normal weight, normoglycemic offspring of individuals with type 2 diabetes mellitus

Edavan P. Praveen, Bindu Kulshreshtha, Madan L. Khurana, Jayaprakash Sahoo, Nandita Gupta, Guresh Kumar, Ariachery C. Ammini, Rajech Knadgawat

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Objective: Offspring of type 2 diabetics have an increased risk of dyslipidemia, glucose intolerance and obesity. The aim of this study was to assess the lipid levels in the offspring of diabetics with normal glucose tolerance and normal body weight. Design: Normal weight offspring of patients with type 2 diabetes mellitus (DM) who had normal glucose tolerance …

Does metformin have a “buffer effect” on serum TSH levels in euthyroid diabetic patients?

Silvia Santos-Palacios, Antonio Brugos-Larumbe, Francisco Guillén-Grima, Ane Garmendia-Madariaga, Juan C. Galofré

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OBJECTIVE: In the last few years a number of studies have found that metformin has a thyrotropin (TSH)-lowering effect in patients with type 2 diabetes (DM2) and that this effect disappears after discontinuation of the drug. Initial studies were carried out in hypothyroid patients on levothyroxine (LT4) treatment …

Macroprolactinemia. Is treatment necessary?

Irene V. Lambrinoudaki, Olga D. Daskalaki, Stathis A. Thomopoulos, Panayiotis Schinochoritis, Argyris B. Argyropoulos

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A 26-year old symptom-free woman was admitted to our Clinic for evaluation of hyperprolactinemia. The patient, who had normal menstrual cycles, was found accidentally to have a cystic adnexal mass and was placed on oral contraceptives (OC) for 3 months. During the first OC-cycle a bilateral breast nipple discharge was noticed and an elevated serum prolactin (PRL) was detected (2.7 nmol/l) …

Monitoring of lipodystrophic and metabolic abnormalities in HIV-1 infected children on antiretroviral therapy

Vana Spoulou, Christina Kanaka-Gantenbein, Irini Bathrellou, Stefano Mora, Glyceria Mostrou, Lambros Sidossis, George Chrousos, Maria Theodoridou

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OBJECTIVE: Few studies have thus far assessed body composition by dual energy X-ray absorptrometry (DXA) in children with HIV, primarily because reference data for normally growing children and adolescents are not available. Our study aimed at evaluating body composition in children with HIV and their relatiοn to serum lipids and glucose homeostasis …

Associations of menstrual cycle irregularities with age, obesity and phenotype in patients with polycystic ovary syndrome

Dimitrios Panidis, Konstantinos Tziomalos, Efstathios Papadakis, Panagiotis Chatzis, Eleni A. Kandaraki, Elena A. Tsourdi, Djuro Macut, Jelica Bjekic-Macut, Apostolos Marthopoulos, Ilias Katsikis

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OBJECTIVE: Limited data suggest that menstrual cycle abnormalities are more pronounced in younger and more obese patients with polycystic ovary syndrome (PCOS). We aimed to evaluate the association between menstrual cycle pattern and age, obesity and PCOS phenotype in a large population of women with PCOS …

Macroprolactinemia in a young man and review of the literature

Evangeline Vassilatou, Panayiotis Schinochoritis, Stamatina Marioli, Ioanna Tzavara

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A 21-year old man, complaining of headaches and fatigue, with a negative past medical history and a normal clinical examination, underwent a hormonal investigation which revealed hyper-prolactinemia and intact pituitary-gonadal axis. Drug-induced hyperprolactinemia was excluded …

Growth Hormone Deficiency: an unusual presentation of Floating Harbor Syndrome

Assimina Galli-Tsinopoulou, Ioannis Kyrgios, Eleftheria Emmanouilidou, Ioanna Maggana, Eleni Kotanidou, Paraskevi Kokka, Charilaos Stylianou

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Floating-Harbor Syndrome (FHS) is a very rare condition of unknown etiology characterized by short stature, delayed bone age, characteristic facial features, delayed language skills and usually normal motor development …

Male contraception: a clinically-oriented review

George A. Kanakis, Dimitrios D. Goulis

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Despite the variety of available female contraceptive methods, many pregnancies (~50%) are still undesired. Many men (>60%) want to participate equally with their partner in family planning; however, male contraceptive methods (MCMs) account for only 14% of those used worldwide and no pharmaceutical MCM is available so far …

Contribution of high-resolution ultrasonography in the differential diagnosis of benign from malignant thyroid nodules

Emmanuel Varverakis, Evaggelos Neonakis

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The purpose of this study was to investigate the value of “high-resolution ultrasonography” in the differential diagnosis of benign from malignant thyroid nodules. The study included ultrasonography examination of 77 patients with thyroid nodules, who underwent thyroidectomy. The histological findings were subsequently compared …

Calciphylaxis: a complication of end-stage renal disease improved by parathyroidectomy

John C. Maroulis, Constantinos Fourtounas, John G. Vlachojannis, Nikolaos Siasos, Dionysios Karavias, Dionysios Chartoumpekis, Ioannis Habeos

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A 43-year old Caucasian male with end-stage renal disease presented with painful skin lesions and high calcium phosphate product that did not respond to medical treatment. Skin biopsy confirmed the diagnosis of calciphylaxis. Urgent parathyroidectomy was performed and re­sulted in decrease in the calcium phosphate product and improvement of his symptoms and signs …

Atypical, invasive, recurring Crooke cell adenoma of the pituitary

Fabio Rotondo, Michael Cusimano, Bernd W. Scheithauer, Claire Coire, Eva Horvath, Kalman Kovacs

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We report the case of a 49-year-old woman presenting with Cushing disease and visual disturbance. An atypical, aggressive, invasive pituitary tumor regrew despite several surgeries. Detailed morphologic investigation by histology, immunohistochemistry and electron microscopy documented …

Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation

Christos Shammas, Stefania Byrou, Marie M. Phelan, Meropi Toumba, Charilaos Stylianou, Nicos Skordis, Vassos Neocleous, Leonidas A. Phylactou

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OBJECTIVE: Congenital adrenal hyperplasia (CAH) is an endocrine autosomal recessive disorder with various symptoms of diverse severity. Mild hyperandrogenemia is the most commonclinical feature in non-classic CAH patients and 95% of the cases are identified by mutations in the CYP21A2 gene. In the present study, the second most common cause for non-classic CAH (NC-CAH), 11β-hydroxylase deficiency due to mutations in the CYP11B1 gene, is investigated …