Category: Volume 15 (2016)

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

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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 …

The gonadotroph origin of null cell adenomas

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George Kontogeorgos, Eleni Thodou

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OBJECTIVE: The term “null cell” adenoma was first proposed in 1980 to designate pituitary adenomas lacking clinical, biochemical and morphological markers to disclose their cell origin. DESIGN: The aim of this study was to investigate the presence of α- and β-gonadotropin subunits in clinically nonfunctioning pituitary tumors …

Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A

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Maryam Nasiri Aghdam, Mohammad Reza Abbaszadegan, Alireza Tafazoli, Mohammad Aslzare, Zohreh Mosavi

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PURPOSE: Multiple Endocrine Neoplasia type 2A (MEN2A) is a complex autosomal dominant inherited syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary parathyroid hyperplasia. In patients with only one or two clinical features, identification of a germ line RET (REarranged in Transfection) mutation is required to make the diagnosis and initiate genetic counseling. METHODS: We analyzed blood DNA from three Iranian families with three generations …

Salivary testosterone responses to a physical and psychological stimulus and subsequent effects on physical performance in healthy adults

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Blair T. Crewther, Liam P. Kilduff, Charlie Finn, Phil Scott, Christian J. Cook

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OBJECTIVE: To address the rapid influence of testosterone (T) on neuromuscular performance, we compared the T and physical performance responses of adults exposed to a physical and psychological stimulus. DESIGN: A group of healthy men (n=12) and women (n=14) each completed three treatments using a randomised, crossover design: exercise involving five × ten-second cycle sprints, viewing a video clip with aggressive content and a control session …

Which is the best predictor of thyroid cancer: thyrotropin, thyroglobulin or their ratio?

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Pinar Yazici, Mehmet Mihmanli, Emre Bozkurt, Feyza Yener Ozturk, Mehmet Uludag

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OBJECTIVE: Since documented incidence of thyroid cancer has been rising over time, in part due to incidental small papillary cancer, several studies have been carried out to investigate the role of possible serum markers of thyroid cancer prior to surgery. DESIGN: Prospective cohort study. AIM: To investigate the role of thyroglobulin (Tg), thyrotropin (TSH) and the TSH:Tg, Tg:TSH ratio in the preoperative diagnosis of thyroid cancer …

The growth endocrine axis and inflammatory responses after laparoscopic cholecystectomy

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Themistoklis Floros, Anastassios Philippou, Dimitrios Bardakostas, Dimitrios Mantas, Michael Koutsilieris

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OBJECTIVE: It is well known that conventional surgery leads to detrimental immune and catabolic responses, thus there is growing interest in the effect of minimally invasive techniques on postoperative endocrine and immune function. The aim of this prospective study was to evaluate the growth hormone (GH)/insulin-like growth factor-1 (IGF-1)/IGF binding protein-3 (IGFBP-3) axis and acute phase (interleukin-6, IL-6, and C-reactive protein, CRP) responses in patients who underwent laparoscopic cholecystectomy …

Clinical impact of strict criteria for selectivity and lateralization in adrenal vein sampling

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Alessandro Gasparetto, John F. Angle, Pasha Darvishi, Colbey W. Freeman, Ray G. Norby, Robert M. Carey

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INTRODUCTION: Selectivity index (SI) and lateralization index (LI) thresholds determine the adequacy of adrenal vein sampling (AVS) and the degree of lateralization. The purpose of this study was investigate the clinical outcome of patients whose adrenal vein sampling was interpreted using “strict criteria” …