ESPE Abstracts

Background: Children born small for gestational age (SGA) with poor growth during the first years of life often remain with short stature during childhood and as adults.Objective and hypotheses: To evaluate the effects of gender and gestational age (GA) on outcomes of GH treatment in very young children born SGA.Method: 620 short SGA children on GH treatment enrolled in KIGS (The Pfizer International Growth Database) were analysed:...

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...

Background: Whilst adhering to the highest standards of data governance and security, the International DSD Registry (www.i-dsd.org) and the International CAH Registry (www.i-cah.org) allow standardised collection of data and promote multicentre collaboration across national boundaries and across multiple clinical and research disciplines.Results: By April 2015, over 1600 cases had bee...

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: A total of 83,803 patients who received rhGH therapy were enrolled in KIGS (Pfizer International Growth Database) including 748 patients diagnosed with a specified or unspecified skeletal dysplasia. The most prevalent diagnoses were hypochondroplasia (n=238: Female=111, Male=127), achondroplasia (n=113: F=51, M=62) and Leri-Weill dyschondrosteosis, LWD (n=88: F=59, M=29).Objective: To analyse the first year response...

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: GH is secreted in a pulsatile manner. The resulting GH peaks are known to be associated with growth, whereas the trough levels between the peaks are thought to be associated with metabolism in different tissues. GH trough levels were identified as a metabolically active signal in rats in the 1980th leading to differences in fat patterning with central obesity. Obese children are known to have low bone mass and bone mass is reduced in short children.<p class="ab...

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 ...