Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0020s27.4 | Impact of SNPs on Hormone Function | ECE2009

LH receptor variance

Piersma Djura , Verhoef-Post Miriam , Look Maxime , Uitterlinden Andre , Pols Huib , Klijn Jan , Berns Els , Themmen Axel

The LH receptor is a member of the large receptor family of GTP-binding protein coupled receptors. Mutations in the LH receptor gene cause severe sex hormone-related disease, ranging from very early precocious puberty in boys (activating mutation) to slight undervirilization, severe hypospadias or complete 46XY pseudohermaphroditism (inactivating mutation). Thus, LH receptor gene mutations have profound effects on sex hormone production and on physiology of patients. In additi...

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...

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...