Prevalence and cardiometabolic associations of the glucocorticoid receptor gene polymorphisms N363S and BclI in obese and non-obese black and white Mississippians

Eugen Melcescu, Michael Griswold, Lianbin Xiang, Sheila Belk, Denise Montgomery, Marilyn Bray, Kevin S. Del Ben, Gabriel I. Uwaifo, Gailen D. Marshall, Christian A. Koch

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OBJECTIVE: Polymorphisms (SNP) in the glucocorticoid receptor (GR) gene can alter sensitivity to glucocorticoids. Previous studies of the N363S and BclI SNP in the GR gene have shown a metabolic syndrome phenotype in mostly non-African populations. The obesity phenotype of African Americans …

The effect of a non-intensive community-based lifestyle intervention on the prevalence of Metabolic Syndrome. The DEPLAN study in Greece

Konstantinos Makrilakis, Sofia Grammatikou, Stavros Liatis, Meropi Kontogianni, Despoina Perrea, Charilaos Dimosthenopoulos, Kalliopi-Anna Poulia, Nicholas Katsilambros

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OBJECTIVE: The aim of the present study was to evaluate the effectiveness of a non-intensive, community-based, lifestyle intervention program on the prevalence of metabolic syndrome (MS), in individuals at high risk for development of type 2 diabetes …

Differences in plasma apelin and visfatin levels between patients with type 1 diabetes mellitus and healthy subjects and response after acute hyperglycemia and insulin administration

Kleopatra Alexiadou, Alexander Kokkinos, Stavros Liatis, Despoina Perrea, Nicholas Katsilambros, Nicholas Tentolouris

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OBJECTIVE. Previous data suggest that apelin and visfatin play a role in metabolism and glucose homeostasis. The aim of the present study was to determine differences in plasma apelin and visfatin concentrations between healthy subjects and patients with type 1 diabetes mellitus …

The rs10830963 variant of melatonin receptor MTNR1B is associated with increased risk for gestational diabetes mellitus in a Greek population

Margarita Vlassi, Maria Gazouli, George Paltoglou, Panagiotis Christopoulos, Lina Florentin, Georgia Kassi, George Mastorakos

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OBJECTIVE: To investigate the association between Gestational Diabetes Mellitus (GDM) and the variants rs10830963 and rs1387153 in the MTNR1B locus in a sample of the Greek population. DESIGN: One hundred seventy-five unrelated pregnant Greek women …

High density lipoprotein is positively correlated with the changes in circulating total adiponectin and high molecular weight adiponectin during dietary and fenofibrate treatment

Georgios A. Christou, Constantinos C. Tellis, Moses S. Elisaf, Alexandros D. Tselepis, Dimitrios N. Kiortsis

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OBJECTIVE: The investigation of the relationship between high density lipoprotein (HDL) and adiponectin. DESIGN: Thirty-seven obese or overweight [body mass index ≥27 Kg/m2], hypertriglyceridemic patients underwent one of the following interventions for 3 months …

Muscle strength and bone in healthy women: effect of age and gonadal status

Cristiana Cipriani, Elisabetta Romagnoli, Vincenzo Carnevale, Ida Raso, Addolorata Scarpiello, Maurizio Angelozzi, Andrea Tancredi, Stefania Russo, Federica De Lucia, Jessica Pepe, Salvatore Minisola

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OBJECTIVE: The aim of this work was to examine the effects of age and menopause on muscle strength and on the muscle-bone interaction. DESIGN: One hundred ninety-four healthy women (mean age 49.8 ± 12.6 SD years) were assessed …

The predictive role of 24h RAIU with respect to the outcome of low fixed dose radioiodine therapy in patients with diffuse toxic goiter

Nishikant Damle, Chandrasekhar Bal, Praveen Kumar, Ramamohan Reddy, Deepali Virkar

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Radioactive iodine uptake (RAIU) is a test used to differentiate hyperthyroidism from thyroiditis and to calculate the radioiodine dose for treatment of Graves’ disease. We aimed to evaluate the predictive role of 24h RAIU with respect to the outcome of radioiodine therapy in patients with diffuse toxic goiter …

Plasma Von Willebrand factor antigen levels are elevated in the classic phenotypes of polycystic ovary syndrome

Ekaterini Koiou, Konstantinos Tziomalos, Ilias Katsikis, Konstantinos Dinas, Elena A. Tsourdi, Eleni A. Kandaraki, Dimitrios Delkos, Efstathios Papadakis, Dimitrios Panidis

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OBJECTIVE: We aimed to assess plasma Von Willebrand factor (vWF) levels in women with polycystic ovary syndrome (PCOS) and to compare these levels among the different PCOS phenotypes. DESIGN: We studied 140 women with PCOS and 40 age and body mass index (BMI)- matched healthy women …

Clinical Case Seminar. Peculiar prolactinomas in patients with pituitary developmental gene mutations: from an adult endocrinologist perspective

Mirjana Doknic, Sandra Pekic, Milorad Civcic, Vera Popovic

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CONTEXT: Congenital hypopituitarism is a syndrome which is associated with single or multiple pituitary hormone deficiencies. Mutations in a number of developmental genes have been linked to combined pituitary hormone deficiencies, the most common being mutation in the pituitary …

Type 2 diabetes mellitus is associated with obesity, smoking and low socioeconomic status in large and representative samples of rural, urban, and suburban adult Greek populations

Nicholas Tentolouris, Alexandros Andrianakos, Georgios Karanikolas, Dimitrios Karamitsos, Panagiotis Trontzas, Petros Krachtis, Fotis Christoyannis, Elpiniki Tavaniotou, Zouboulio Nikolia, Evaggelia Kaskani, Leonidas Kontelis, Petros P. Sfikakis

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OBJECTIVE: In this cross-sectional epidemiologic study we examined the association between type 2 diabetes mellitus and demographic, clinical, and socioeconomic parameters in large rural, urban and suburban populations of adult Greeks. DESIGN: Of the total target adult population …

Gonadotroph pituitary macroadenoma inducing ovarian hyperstimulation syndrome: successful response to octreotide therapy

Olga Karapanou, Marinella Tzanela, Nikolaos Tamouridis, Stylianos Tsagarakis

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We report a young woman with spontaneous ovarian hyperstimulation syndrome (OHSS), headaches, visual field defect and pituitary macroadenoma. She underwent transsphenoidal surgery with remission of OHSS. Immunohistochemical staining was positive for β-FSH and β-LH …

Sex steroids and personality traits in the middle luteal phase of healthy normally menstruating young professional women

Pavlina D. Avgoustinaki, Effrosyni Mitsopoulou, Gregorios Chlouverakis, Theoni Triantafillou, Maria Venihaki, Sofia Koukouli, Andrew N. Margioris

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OBJECTIVE: Sex steroids affect human behavior. The aim of the present study was to determine the associations, if any, between the circulating levels of gonadal and adrenal sex steroids in the mid luteal phase (21st day of a normal menstrual cycle, MC) of young professional …

Prediction of maternal and neonatal adverse outcomes in pregnant women treated for hypothyroidism

Maria K. Poulasouchidou, Dimitrios G. Goulis, Pavlos Poulakos, Gesthimani Mintziori, Apostolos Athanasiadis, Grigorios Grimbizis, Basil C. Tarlatzis

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OBJECTIVE: To examine whether the concentrations of maternal serum TSH and free thyroxine (fT4) through pregnancy, the presence of thyroid autoimmunity (TAI) or the dose of levo-thyroxine (LT4) replacement can predict the occurrence of maternal or fetal/neonatal complications in pregnant women …

Epidemiology of Type 1 diabetes mellitus in Cyprus: rising incidence at the dawn of the 21st century

Nicos Skordis, Elisavet Efstathiou, Tassos C. Kyriakides, Antria Savvidou, Savvas C. Savva, Leonidas A. Phylactou, Christos Shammas, Vassos Neocleous

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OBJECTIVE: The incidence of Type 1 diabetes mellitus (T1DM) in Greek-Cypriot children aged less than 15 years between 1990 and 2009 was examined along with gender differences concerning the age of onset and the seasonal variation at manifestation of the disease …

Novel syndrome of four-limb proximal fragility fractures associated with HIV infection, cholestatic liver failure, and histiocytic infiltration of bone marrow

Run Yu, Nicholas N. Nissen, Bonnie Balzer, Xuemo Fan

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We report a syndrome of four-limb proximal fragility fractures associated with HIV infection, cholestatic liver failure, and histiocytic infiltration of bone marrow in a 40-year-old African American man. The patient presented with multiple fractures in the proximal humeri …

Assessment of salivary free cortisol levels by liquid chromatography with tandem mass spectrometry (LC-MS/MS) in patients treated with mitotane

Cinzia Carrozza, Rosa Lapolla, Jacopo Gervasoni, Carlo Antonio Rota, Pietro Locantore, Alfredo Pontecorvi, Cecilia Zuppi, Silvia Persichilli

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OBJECTIVE: Mitotane is an adrenocytolytic agent used in adrenocortical carcinoma, inducing adrenal insufficiency, requiring replacement treatment. Such therapy is not easy to monitor because of mitotane interference. Salivary cortisol reflects a free fraction of plasma …

What causes a prolactinoma to be aggressive or to become a pituitary carcinoma?

Jana Phillips, Honey E. East, Sarah E. French, Eugen Melcescu, Robert D. Hamilton, William C. Nicholas, Jonathan F. Fratkin, Andrew D. Parent, Gustavo Luzardo, Christian A. Koch

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INTRODUCTION: Malignant prolactinoma is an exceedingly rare endocrine tumor and cannot be diagnosed on histological grounds alone. Similarly to other neuroendocrine tumors such as pheochromocytoma, the mitoses index, Ki-67, p53, and others are utilized in helping understand …

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 …

High TSH and low T4 as prognostic markers in older patients

Evelin Mingote, Tomás Meroño, Rocío Rujelman, Alejandra Marquez, Pia Fossati, Mirta Gurfinkiel, Marta Schnitman, Fernando Brites, Cristina Faingold, Gabriela Brenta

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OBJECTIVE: To examine the association between thyroid profile and morbidity/mortality (MM) in hospitalized older patients. DESIGN: This is a retrospective study of patients over the age of 60yr admitted to the Dr. Cesar Milstein Hospital between 2009 and 2010 and who had thyroid function tests …

Harlequin Syndrome post-transsphenoidal pituitary macroadenoma surgery

Gonzalo Díaz-Soto, Maria J. Vaquerizo, Ciro García-Alvarez, Aurelia Villar-Bonet

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A 45-year-old woman, with a history of asymmetric facial flushing, was presented to the Endocrinology Unit after pituitary macroadenoma removal. After other pathological entities had been ruled out, she was diagnosed with harlequin syndrome following a lesion of the postganglionic …

Very premature pubarche in girls is not a pubertal variant

Françoise Paris, Nicolas Kalfa, Pascal Philibert, Claire Jeandel, Laura Gaspari, Charles Sultan

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Premature pubarche (PP) in girls is considered to be a benign phenomenon and is the clinical expression of premature adrenarche. Since it does not usually increase the risk of either abnormalities in pubertal development or a reduced final adult height, a non-interventional approach …

Anatomical localization of insulinomas: still a need to combine a set of diagnostic procedures

Gianluca Tamagno, Donal O’Shea

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The diagnosis of insulinoma is based on universally defined clinical and laboratory parameters (Whipple triad and fasting test). Pre-operative tumor localization is the main challenge in the diagnostic management of insulinomas. The pre-operative and/or intra-operative localization …

Escitalopram-induced subclinical hypothyroidism. A case report

Elias E. Mazokopakis, Christos M. Karefilakis, Ioannis K. Starakis

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Several conditions and drugs induce subclinical hypothyroidism. We report a case of asymptomatic and reversible subclinical hypothyroidism in a 48-year old woman with minor depressive disorder receiving therapy with escitalopram 20 mg daily for six months …

Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation

Sophia Kitsiou-Tzeli, Maria Deligiorgi, Sophia Malaktari-Skarantavou, Charalampos Vlachopoulos, Spyridon Megremis, Irene Fylaktou, Joanne Traeger-Synodinos, Christina Kanaka-Gantenbein, Christodoulos Stefanadis, Emmanuel Kanavakis

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OBJECTIVE: Frasier syndrome (FS) phenotype in 46,XY patients usually consists of female external genitalia, gonadal dysgenesis, high risk of gonadoblastoma and the development of end stage renal failure usually in the second decade of life. FS is caused by heterozygous de novo intronic splice site mutations …

Rare presentation of occult medullary carcinoma of the thyroid as a mediastinal mass

Vasiliki Daraki, Sofia Koukouraki, George Velegrakis, Evangelia Mamalaki, Vrettos T. Haniotis, George Kalikakis, Maria I. Stathaki, Nikos Karkavitsas, Stathis S. Papavasiliou

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OBJECTIVE: To describe a rare case of occult (<1cm in diameter) medullary thyroid carcinoma (MTC) in a 45-year-old woman, presenting as an asymptomatic mediastinal mass. DESIGN: The diagnostic methodology included laboratory measurements of relevant biochemical and hormonal parameters ...