hrp0084fc14.4 | Puberty | ESPE2015

Genetic Variation of AMH Signaling Affects AMH and Inhibin B Levels in Healthy Peripubertal Girls

Hagen Casper P , Almstrup Kristian , Main Katharina M , Juul Anders

Background: Anti-Müllerian hormone (AMH) is produced by small growing ovarian follicles. It inhibits both FSH induced maturation of follicles as well as aromatase activity. Genetic variation of AMH signalling is associated with age at menopause and circulating oestradiol levels, i.e. AMH rs10407022 T>G (intragenic) and AMHR2 rs11170547 C>T (putative enhancer).Objective and hypotheses: This present study aims to investigate ...

hrp0084p2-501 | Perinatal | ESPE2015

Variation of Environmental Chemicals Measured in Serum During Pregnancy

Assens Maria , Frederiksen Hanne , Juul Anders , Main Katharina

Background: Significant changes in metabolism and water equilibrium are registered during pregnancy. However, very limited previous investigations have been carried out on variations of exposure levels and metabolism of non-persistent environmental chemicals during pregnancy.Objective and hypotheses: The objective of this longitudinal study is to describe variation in exposure of pregnant women to environmental chemicals. We hypothesise that variation in...

hrp0089fc7.5 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Thyroid Hormone Levels in Cord Blood are Associated with Fetal and Neonatal Growth

Hansen Malene K. , Strandkjaer Nina , Frikke-Schmidt Ruth , Bundgaard Henning , Main Katharina M. , Iversen Kasper K.

Background: Normal function of the thyroid gland is essential for adequate neurological development of the fetus and child. In previous studies, associations between reduced birth weight and overt maternal and fetal thyroid dysfunction have been described. We hypothesize that also variations within the normal range of fetal thyroid function have an impact on fetal and neonatal growth.Objective: The aim of this study is to investigate whether thyroid horm...

hrp0086rfc4.3 | Pathophysiology of Obesity | ESPE2016

Early Growth Patterns are Associated with Alterations in Adipocytokine Levels and Fat Distribution Measured by DXA in 982 Children/Adolescents

Tinggaard Jeanette , Thankamony Ajay , Jensen Rikke B , Main Katharina M , Juul Anders

Background: Early growth trajectories are associated with childhood BMI and fat distribution as well as adulthood type 2 diabetes. Mechanisms by which early growth determines later adiposity remain unclear, but the effect may be mediated through adipocytokines.Objective and hypotheses: We describe the association between infant growth, adolescent fat distribution and serum adipocytokines. We hypothesize that poor or rapid early growth is associated with ...

hrp0084fc14.6 | Puberty | ESPE2015

An Evaluation of Glandular Breast Tissue Development and Volume by MRI in 121 Healthy Peripubertal Girls

Fugl Louise , Hagen Casper , Mieritz Mikkel , Tinggaard Jeanette , Fallentin Eva , Main Katharina , Juul Anders

Background: Since the late 1960’s, pubertal breast staging has been based on Tanner’s classification. Appearance of glandular breast tissue may be difficult to distinguish by palpation from the surrounding subcutaneous fat tissue, especially in obese girls. To our knowledge, validation of the clinical assessment of pubertal stages by MRI quantification of glandular breast tissue has never been performed.Objective and hypotheses: i) To report no...

hrp0084p1-116 | Puberty | ESPE2015

FSHB/FSHR Genetic Variants alter Serum FSH Levels and Prepubertal Ovarian Follicular Growth in Healthy Girls

Busch Alexander S , Hagen Casper P , Almstrup Kristian , Main Katharina M , Juul Anders

Background: Single nucleotide polymorphisms (SNPs) related to genes encoding the FSHβ subunit and FSH receptor (FSHB/FSHR) affect FSH production (FSHB c.-211G>T) and receptor sensitivity/expression in vitro (FSHR c.2039A>G & FSHR c.-29G>A). FSHR c.2039A>G, but not FSHR c.-29G>A, is associated with increased FSH levels in adult women, while there are conflicting results on F...

hrp0084p2-497 | Perinatal | ESPE2015

Genetic Variation in the FSH Signalling Pathway Affects Female Reproductive Hormones During Infancy

Henriksen Louise S , Hagen Casper P , Assens Maria , Almstrup Kristian , Main Katharina M

Background: Studies have shown that genetic variations in the FSH pathway (SNPs: FSHB −211G>T, FSHR −29G>A, and FSHR 2039A>G) affect peripubertal levels of serum FSH and age at pubertal onset in girls.Objective and hypotheses: Genetic variations in the FSH pathway reflect circulating levels of female reproductive hormones during the postnatal gonadotropin surge.Method: Blood samples were taken in girls of th...

hrp0092fc14.2 | GH and IGF2 | ESPE2019

Pubertal Onset in 1572 Girls with Short, Normal and Tall Stature: Associations to Height, Serum IGF-I and PAPP-A2 Genotypes

Upners Emmie N , Busch Alexander S. , Almstrup Kristian , Petersen Jørgen Holm , Main Katharina , Jensen Rikke Beck , Juul Anders

Background: Sexual maturation is closely linked to growth, suggesting common pathways between the reproductive development and the growth hormone/insulin-like growth factor-I (GH/IGF-I) axis. IGF-I bioavailability is regulated by Pregnancy associated plasma protein-A (PAPP-A), Pregnancy associated plasma protein-A2 (PAPP-A2) and Stanniocalcin 2 (STC2). A large genome-wide association study (GWAS) identified PAPP-A, PAPP-A2 and STC2 to represent loci strongly a...

hrp0086fc12.6 | Neuroendocrinology | ESPE2016

Pubertal Onset in Boys is Influenced by BMI and Genetic Variation of Fshb and Fshr: A Study in Two Population-Based Cohorts of Different Genetic Ancestry

Busch Alexander S. , Hagen Casper P. , Main Katharina M. , Almstrup Kristian , Pereira Anita , Corvalan Camila , Mericq Veronica , Juul Anders

Background: Age at onset of puberty exhibits a remarkable variation mirroring nutritional, environmental, socioeconomic and genetic factors. While large genome-wide association studies identified more than hundred genetic loci associated with age at menarche in girls, knowledge on loci associated with age at pubertal onset in boys is sparse. FSHB/FSHR genetic variants have been shown to affect pubertal timing in girls and reproductive parameters in men.<p class="a...

hrp0086p1-p347 | Gonads &amp; DSD P1 | ESPE2016

The International AGD Consortium: A Multi-center Study of 3939 Infants and Children with Anogenital Distance Measurements

Lindhardt Johansen Marie , Thankamony Ajay , Acerini Carlo , Kold Jensen Tina , Main Katharina M. , Holm Petersen Jorgen , Swan Shanna , Juul Anders

Background: The anogenital distance (AGD) is considered a valid marker of altered androgen action in utero. Recently, reduced AGD has been shown in males with hypospadias, cryptorchidism, reduced semen quality and infertility. It has also been proposed as a new marker to be used by clinicians when managing patients with Disorders of Sex Development. However, little normative data exist and measurement methods vary.Objective and hypotheses: We established...