Genetic Testing in Clinical Endocrinology

Constantin Polychronakos

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For the past several decades, the standard diagnostic and clinical research tool in endocrinology has been the hormone assay. The enormous surge in the development and use of molecular and cell biology technologies in the past two decades has advanced our understanding of hormone synthesis, secretion, regulation and action at the cellular level but had a relatively modest impact on the exploration of hormonal physiology …

Genetics and Hormones in Testicular Descent*

Marko Kaleva and Jorma Toppari

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Testicular descent is an essential part of normal male sexual development. Any anomaly that disrupts normal testicular descent will be clinically evident as cryptorchidism. Several factors, such as Hoxa-10, epidermal growth factor (EGF), calcitonin gene-related peptide (CGRP), and hormones, especially androgens and insulin-like factor 3

GH deficiency in adults

Dimitrios S Papadogias, Polyzois Makras, Gregory A Kaltsas, John P Monson

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Until the last decade, the diagnosis of GH deficiency (GHD) in adults was only considered as a marker of hypothalamo-pituitary disease. GHD in adults is now recognized as a specific clinical syndrome associated with a cluster of cardiovascular risk factors such as altered body composition with increased body fat, insulin resistance, adverse lipid profile, reduced physical performance …

The-2548G/A polymorphism in the human leptin gene promoter region is associated with plasma free leptin levels; interaction with adiposity and gender in healthy subjects

Nikos Yiannakouris, Labros Melistas, Mary Yannakoulia, Keisha Mungal, Christos S. Mantzoros

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A common -2548G/A promoter variant of the human leptin gene has recently been shown to be associated with variations in circulating leptin levels but available data are still conflicting. The aim of this study was to explore potential associations between the -2548G/A polymorphism and adiposity-related variables, plasma total leptin levels …

Effect of Restoration of Euthyroidism on Peripheral Blood Cells and Erythropoietin in Women with Subclinical Hypothyroidism

Mirjam Christ-Crain, Christian Meier, Peter Huber, Henryk Zulewski, Jean-Jacques Staub, Beat Müller

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Background: In overt hypothyroidism (OH) anemia is common, while less frequently basophilia has been described. In subclinical hypothyroidism (SCH), however, data on the distribution of peripheral blood cells are lacking. Therefore, we evaluated the effects of L-T4 replacement therapy on peripheral blood elements in female patients with SCH before and after restoration …

The Influence of Serum Cortisol Levels on Growth Hormone Responsiveness to GH-Releasing Hormone Plus GH-Releasing Peptide-6 in Patients with Hypocortisolism

Sandra Pekic, Mirjana Doknic, Marina Djurovic, Svetozar Damjanovic, Milan Petakov1 Dragana Miljic, Carlos Dieguez, Felipe F Casanueva, Vera Popovic

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The aim of this study was to evaluate the influence of circulating cortisol levels on the somatotroph responsiveness to the most potent stimuli of growth hormone (GH) secretion, the GHRH+GHRP-6 test. We studied 12 patients with hypocortisolism (10 with Addison’s disease and 2 with isolated ACTH deficiency) before and after glucocorticoid (GC) replacement therapy and compared …

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 …