hrp0082wg5.1 | Paediatric and adolescent gynaecology | ESPE2014

New Markers of Ovarian Function in Girls

Juul Anders

The hypothalamo-pituitary-gonadal axis (HPG) is activated in healthy girls during infancy; the socalled minipuberty occurring 2–3 months postnatally. Minipuberty is followed by a relative quiescent period during childhood, during which gonadotropins and gonadal steroids circulates at extremely low concentrations.At the onset of puberty the HPG axis is reactivated. Evaluation of ovarian function is clinical relevant in girls with pubertal disorders (...

hrp0084p3-1029 | Growth | ESPE2015

Evaluation of 207 Danish Girls with Constitutional Tall Stature: Diagnostic Characteristics and Effects of Oral Administration of 17-β Oestradiol

Upners Emmie Nicolina , Juul Anders

Background: Tall stature may be associated with psychological distress in some girls, and height reduction by oestrogen therapy has been described, but remains controversial. Possible side effects of ethinyl oestradiol therapy need to be balanced against a possible beneficial effect on adult height. In our centre natural 17-β oestradiol, which has a better safety profile, is used to reduce final height.Objective and hypotheses: To evaluate the pheno...

hrp0094p2-349 | Pituitary, neuroendocrinology and puberty | ESPE2021

Machine learning to detect the Klinefelter syndrome endocrine profile

Madsen Andre , Aksglaede Lise , Juul Anders ,

Introduction: Klinefelter syndrome (KS) is the most common sex-chromosome disorder and cause of infertility and hypogonadism in males. However, KS remains an underdiagnosed condition with the majority of expected cases escaping clinical diagnosis and follow-up. Generally, the mid-puberty endocrine profile associated with KS is characterized by elevated levels of gonadotropins due to diminished testosterone feedback.Objective:</st...

hrp0084p1-117 | Puberty | ESPE2015

Transient Breast Budding in Healthy Girls is a Frequent Phenomenon: Description of Pubertal Progression and Associations to Gonadotropins, Estradiol and FSHB/FSHR Genetic Polymorphisms

Johansen Marie Lindhardt , Hagen Casper P , Mieritz Mikkel G , Petersen Jorgen Holm , Juul Anders

Background: Intermittent breast budding (girls entering stage B2 and then subsequently regressing to B1) in healthy girls is a frequent phenomenon observed by most clinicians. However, little is known of normal progression of female puberty, and the phenomenon of transient breast development has, to our knowledge, never been studied in details.Objective and hypotheses: We present and validate the female Puberty Nomogram indicating age specific SD<...

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...

hrp0086fc15.6 | Late Breaking | ESPE2016

Type 1 Diabetes Associated Serum Insulin-Like Growth Factor I (IGF-I) Reference Values in Children and Adolescents

Oberg Daniel , Salemyr Jenny , Ortqvist Eva , Juul Anders , Bang Peter

Background: The disturbance of the GH-IGF-axis in type 1 diabetes (T1DM) with low circulating IGF-I, GH hypersecretion, and hyperinsulinemia, which may be associated with high tissue IGF-I, have implications on long-term vascular complications.Objective and hypotheses: To establish disease, sex and age related serum IGF-I reference values for children with T1DM and test the hypothesis that IGF-I SDS is lower in T1DM than in healthy controls and negativel...

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<...

hrp0082fc14.4 | Puberty | ESPE2014

Development of Pubertal Gynaecomastia: a Longitudinal Cohort Study

Mieritz Mikkel G , Hagen Casper P , Juul Anders

Background: Pubertal gynaecomastia (PG) is considered a clinical sign of an oestrogen–androgen imbalance at the breast tissue level although little evidence exists. PG occurs in 40–60% of adolescent Caucasian boys, and in most cases however, no underlying endocrinopathy can be identified. Very few longitudinal studies on PG exist.Objective and method: As a part of the longitudinal COPENHAGEN Puberty Study we followed 110 healthy Danish boys (ag...

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 ...

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...