Searchable abstracts of presentations at key conferences in endocrinology

ea0070oc9.3 | Reproductive and Developmental Endocrinology | ECE2020

Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients

Moolhuijsen Loes , Louwers Yvonne V , Meun Cindy , Broer Linda , Uitterlinden Andre G , Sisk Ryan K , Dunaif Andrea , Laven Joop SE , Visser Jenny A

Introduction: Polycystic ovary syndrome (PCOS), the most common endocrine disorder in women of reproductive age, is diagnosed based on three criteria, including a polycystic ovarian morphology. Moreover, women with PCOS have elevated serum Anti-Müllerian Hormone (AMH) levels, a hormone known to correlate with follicle number. In addition, AMH production per follicle is suggested to be higher in PCOS. Little is known about AMH gene regulation. Hence, this study aims to inv...

ea0049ep744 | Endocrine Disruptors | ECE2017

Systematic screening for environmental and behavioral determinants identifies factors detrimental to skeletal health

Oei Ling , Wu Joy , Oei Edwin , Rivadeneira Fernando , Uitterlinden Andre , Ioannidis John , Snyder Michael , Patel Chirag

Background: An increasing amount of biomedical data is becoming available, and methods are needed to tackle these “big data”.Methods: We performed a systematic evaluation of 138 environmental and behavioral factors in relation to bone mineral density (BMD) in the National Health and Nutrition Examination Survey (NHANES). Dual energy X-ray absorptiometry (DXA) scans were available for total body, head, pelvis and lumbar spine for 27,259 particip...

ea0020oc3.2 | Reproduction/Stress/Endocrine Disruptors | ECE2009

Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome

Kevenaar Marlies E , Themmen Axel PN , van Kerkwijk Anke J , Valkenburg Olivier , Uitterlinden Andre G , de Jong Frank H , Laven Joop SE , Visser Jenny A

Polycystic ovary syndrome (PCOS) is characterized by anovulation, hyperandrogenemia, and polycystic ovaries. Although the etiology of PCOS is poorly understood, the common denominator is a disturbance in the selection of the dominant follicle. TGFβ family members, such as anti-Müllerian hormone (AMH) and bone morphogenetic proteins (BMPs), suppress FSH sensitivity. Therefore their signaling pathway may contribute to the aberrant follicle development in PCOS women. We...

ea0016s20.6 | Translational highlights | ECE2008

A functional AMH polymorphism is associated with follicle number and androgen levels in polycystic ovary syndrome patients

Kevenaar Marlies E , Laven Joop SE , Fong Sharon Lie , Uitterlinden Andre G , de Jong Frank H , Themmen Axel PN , Visser Jenny A

Polycystic ovary syndrome (PCOS) is characterized by anovulation, elevated levels of circulating androgens and polycystic ovaries. Although the etiology of PCOS is poorly understood, the common denominator is a disturbance in the selection of the dominant follicle. In PCOS women serum Anti-Müllerian Hormone (AMH) levels are elevated. Since AMH reduces FSH sensitivity of growing follicles, the elevated AMH levels in PCOS patients may contribute to the disturbed follicle se...

ea0016p371 | Growth factors | ECE2008

The cytosine-adenine (CA) repeat polymorphism in the promoter region of the insulin-like growth factor-1 (IGF-1) gene is not associated with the GH dose in GH-deficient adults

Meyer Silke , Bruck Carolin , Ivan Diana , Kohler Ute , Schafer Stephan , Arp Pascal , van der Lely Aart J , Uitterlinden Andre G , Kann Peter H

Objective: A cytosine-adenine (CA)n microsatellite repeat polymorphism in the promoter region of the insulin-like growth factor-1 (IGF-1) gene has reported to be associated with IGF-1 serum levels, birth weight, body height, bone mineral density and risk for type 2 diabetes and myocardial infarction. Carriers and non-carriers of the most frequent allele (length 192 base pairs (bp)) showed significantly different total IGF-1 serum levels. This polymorphism may direct...

ea0049p3 | Update on regulation of steroidogenesis by aberrant hormone receptors | ECE2017

Update on regulation of steroidogenesis by aberrant hormone receptors

Lacroix Andre

The mechanisms regulating cortisol production when ACTH of pituitary origin is suppressed in primary adrenal causes of Cushing’s syndrome (CS) include diverse genetic and molecular mechanisms. These can lead either to constitutive activation of the cAMP system and steroidogenesis or to its regulation exerted by the aberrant adrenal expression of several hormone receptors, particularly G-protein coupled hormone receptors (GPCR) and their ligands. Screening for aberrant exp...

ea0041ep541 | Diabetes therapy | ECE2016

PPARG2 Pro12Ala, TNFα G(308)A and G(238)A, LIPC C(-514)T, ACE I/D, SLCO1B1 Val174Ala polymorphism as predictors of lipid-lowering response to statin therapy in patients with T2DM

Lebedeva Nadezhda Ol , K Vikulova Olga , Nikitin Alexei G , Shamkhalova Minara Sh , Shestakova Marina V

Aim: To evaluate the effect of PPARG2 Pro12Ala, TNFα G(308)A and G(238)A, LIPC C(-514)T, ACE I/D, SLCO1B1 Val174Ala polymorphism on the response to statins therapy in patients with type 2 diabetes mellitus (T2DM).Methods: We consecutively recruited patients with type 2 DM requiring lipid-lowering therapy according to current guidelines. Patients were started on either atorvastatin 10 or 20 mg. After 12 month of st...

ea0029p902 | Female Reproduction | ICEECE2012

The effects of the therapy with ethinylestradiol 30 μg-drospirenone+metformin on endothelial dysfunction in the polycystic ovary syndrome

Ilie I. , Ilie R. , Marian I. , Mocan T. , Hazi G. , Duncea I. , Georgescu C.

Introduction: Recent data indicate that women affected by the polycystic ovary syndrome (PCOS) are at a greater risk for cardiovascular disease (CVD). The objective of this study was to evaluate the effect of the association ethinylestradiol 30 μg–drospirenone 3 mg (DRP/EE30 μg) plus metformin and weight loss on surrogate markers of CVD in PCOS.Methods: Twenty-five young women with PCOS (mean age 22.76±0.83 years, body mass index (BMI...

ea0029oc4.4 | Pituitary Basic | ICEECE2012

Identification of coupling specificity between somatostatin receptor 5 (SST5) and G proteins by a bioluminescence resonance energy transfer (BRET) technique: the role of GoA protein

Peverelli E. , Mantovani G. , Vitali E. , Busnelli M. , Chini B. , Lania A. , Beck-Peccoz P. , Spada A.

In this study we employed a novel bioluminescence resonance energy transfer (BRET) biosensor to study the coupling specificity of somatostatin receptor 5 (SST5) and its naturally occurring mutant R240W in living cells. Our previous data demonstrated that SST5 carrying the R240W mutation as well as other mutations in the third intracellular loop maintained the ability to inhibit intracellular cAMP levels similarly to the wild-type but failed to mediate the inhibition of intrace...