hrp0092fc11.6 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Pubertal Timing in Parents is Associated with Timing of Pubertal Milestones in Offspring of Concordant Sex – but Only Inconsistently with Milestones in Offspring of Discordant Sex

Busch Alexander S , Hagen Casper P , Juul Anders

Context: Puberty timing is highly heritable. Recent genome-wide association studies, comparing timing of menarche in girls to timing of voice-break and facial hair in boys, revealed a largely overlapping genetic architecture of female and male pubertal timing. However, it is also known that genetic heterogeneity between sexes exists for some loci.Objectives: We hypothesized that self-reported relative parental pubertal t...

hrp0092p1-114 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Obesity in Boys is Not Associated with Delayed Pubertal Onset

Busch Alexander , Højgaard Brigitte , Hagen Casper , Teilmann Grete

Context: Pubertal timing in boys is associated with body mass index (BMI). Studies consistently report an inverse correlation of BMI and pubertal timing within the normal BMI range. However, observations in obese boys are conflicting with different studies reporting either early or delayed pubertal onset in obese boys.Objectives: We aimed to assess the association of clinically assessed initial milestones of male puberty...

hrp0086rfc12.8 | Neuroendocrinology | ESPE2016

Circulating MKRN3 Levels Decline During Puberty in Healthy Boys

Busch Alexander S. , Hagen Casper P. , Almstrup Kristian , Juul Anders

Background: Initiation and progression of puberty requires concerted action of activating and inhibiting factors. Recently, cases of central precocious puberty have been linked to loss-of-function mutations of makorin RING-finger protein 3 (MKRN3) indicating a pivotal inhibitory role of MKRN3 on GnRH secretion.Objective and hypotheses: To investigate peripubertal circulating MKRN3 levels in healthy boys.Method: Healthy boys (n<...

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...

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...

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...

hrp0094ha2 | Biphasic Pattern of Circulating Reproductive Hormones in Female Infants – The Longitudinal COPENHAGEN Minipuberty Study | ESPE2021

Biphasic Pattern of Circulating Reproductive Hormones in Female Infants – The Longitudinal Copenhagen Minipuberty Study

Lindhardt Ljubicic Marie , Siegfried Busch Alexander , Upners Emmie , Bistrup Fischer Margit , Holm Petersen Jorgen , Lau Raket Lars , Frederiksen Hanne , Holm Johannsen Trine , Juul Anders , Hagen Casper P.

Background: Minipuberty denotes a transient activation of the hypothalamic-pituitary-gonadal (HPG) hormone axis in infancy. This activation provides an opportunity to examine the gonadal function in infants suspected of hypogonadism before the axis is silenced during childhood. However, female minipuberty remains poorly elucidated. Objective: The study aimed to evaluate dynamic changes in luteinizing hormone (LH), follic...

hrp0094fc9.5 | Growth Hormone and IGFs | ESPE2021

Dynamic Changes in Growth and IGF-I During the First Year of Life; A Longitudinal Study of 233 healthy Danish Infants

Upners Emmie N. , Ljubicic Marie L , Busch Alexander S , Fischer Margit B , Almstrup Kristian , Petersen Jorgen H , Jensen Rikke B , Hagen Casper P , Juul Anders ,

Background: Growth during infancy is a continuation of the rapid fetal growth and its regulation is complex and multifactorial. It is well-established that insulin-like growth factor-I (IGF-I) and its regulators (e.g. IGF binding proteins (IGFBP-3) and pregnancy-associated plasma protein-A2 (PAPP-A2)) are important for prenatal and postnatal growth; however, their significance for growth during infancy is not fully explored.Aims: The aim...