hrp0084p1-121 | Puberty | ESPE2015

A Missense Mutation in MKRN3 in a Danish Girl with Central Precocious Puberty and Her Brother with Early Puberty

Kansakoski Johanna , Raivio Taneli , Juul Anders , Tommiska Johanna

Background: Idiopathic central precocious puberty (ICPP) results from the premature reactivation of the hypothalamic-pituitary-gonadal axis leading to development of secondary sexual characteristics prior to 8 years in girls or 9 years in boys. Mutations in the maternally imprinted MKNR3 gene are the most common identified genetic cause of ICPP to date. Expression of MKRN3 in the arcuate nucleus is presumed to be inhibitory to GnRH secretion, but the exact mechanism remains un...

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...

hrp0097fc6.4 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Sleeptime-excreted total urinary luteinizing hormone concentrations reveal that the onset of central puberty occurs at around the same time in boys and girls: a longitudinal study

Demir And , Hero Matti , Juul Anders , M. Main Katharina

Objectives: We designed a longitudinal study to investigate the association between central pubertal activation with age at the appearance of clinical signs of puberty. We, therefore, assessed nocturnal gonadotropin secretion which can be detected in the form of total luteinizing hormone (LH) immunoreactivity in the daytime- and sleeptime-excreted urine.Methods: Thirty healthy volunteers (17 boys and 13 girls, aged 3.4&n...

hrp0098p2-381 | Late Breaking | ESPE2024

A Novel and Validated Noninvasive Method for Determining the Onset of Biochemical Puberty and Predicting Imminent Clinical Puberty

Demir And , Hero Matti , Juul Anders , M. Main Katharina

Objectives: We aim ed to validate first-morning-voided (FMV) total urinary luteinizing hormone immunoreactivity (U-LH-ir) as a marker for the onset of biochemical puberty and as a noninvasive method to predict the imminent onset of clinical puberty.Methods: We analyzed 651 children (305 boys aged 2.8–17.8 years and 346 girls aged 2.6–18.0 years, both spanning Tanner stages 1-5) across two distinct cohorts. In...

hrp0092p1-399 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Pubertal Events, Reproductive and Growth Hormones and Predictive Factors in Healthy Girls with Transient Thelarche.

Soto Julio , Pereira Ana , Busch Alexander , Almstrup Kristian , Corvalan Camila , Juul Anders , Mericq Veronica

Context: Transient thelarche (TT) corresponds to the appearance, regression and subsequent reappearance of the breast bud in girls. Only a single study about its frequency and progression is available (Lindhardt Johansen JCEM 2017).Objective and Hypotheses: To determine whether girls with TT girls (group 1) compared to girls without TT (group 2) show differences in i) timing/sequence of pubertal events ii) pattern of rep...

hrp0089rfc13.5 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Pubertal Voice Break: Temporal Relation of Secondary Sexual Characteristics in Healthy Boys

Busch Alexander Siegfried , Hagen Casper P , Sorensen Kaspar , Kolby Nanna , Eckert-Lind Camilla , Juul Anders

Introduction: The clinical hallmark of male puberty is testicular enlargement ≥4 ml. While this initial sign largely depends on central reactivation of the hypothalamic-pituitary-gonadal (HPG) axis along with peripheral follicle-stimulating hormone (FSH) action, the attainment of voice-break, activation of sweat- and sebaceous- glands, acne as well as axillary hair development require testosterone action.Objective: To investigate the tempo...

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 ...

hrp0082p1-d3-93 | Sex Development | ESPE2014

Ex vivo Culture of Human Fetal Gonads: Manipulation of Meiosis Regulation Affects Testis Development

Jorgensen Anne , Nielsen John E , Perlman Signe , Lundvall Lene , Juul Anders , Rajpert-De Meyts Ewa

Background: Alterations in the timing or expression level of players involved in sex determination and differentiation can cause disorders of sex development, gonadal dysgenesis and germ cell neoplasms later in life. The mitosis–meiosis switch is one of the first manifestations of female sex differentiation and we hypothesise that a conflict between meiosis-inhibiting (male pathway) and meiosis-inducing signals (female pathway) is one of the possible mechanisms for disrup...

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...