ESPE Abstracts

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 (...

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...

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...

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...

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...

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<...

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...

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 ...

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...

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...