ESPE Abstracts

Background: Neonatal severe hyperparathyroidism (NSHPT) has been associated with inactivating mutations of the calcium-sensing receptor (CASR) gene. Impaired inhibition of PTH secretion by extracellular ionized calcium and decreased urinary excretion of calcium leads to severe hypercalcemia in the first days of life. Calcium responsiveness of the CaSR is amplified by type 2 calcimimetic agents like cinacalcet, which has been able to normalize PTH and calcium levels in cases of...

Introduction and objective: Gonadectomy was carried out for a long time after the diagnosis of complete androgen insensitivity syndrome (CAIS). It is now recommended to leave the gonads in situ in order to guarantee endogenous hormone production. It is unclear how best to clinically monitor testicular function. The aim of the study was to investigate whether inhibin B can be used as a future follow-up parameter to screen for gonadal function in CAIS p...

Objective: Low birth weight and prematurity are linked to various behavioural outcomes. In addition, preterm (PT) infants show altered maturation of pituitary–gonadal axis, as demonstrated by its pronounced transient activation during the first postnatal months. Given that gonadal steroid hormones shape the basic processes of neural and behavioural sexual differentiation these elevated sex steroids in premature infants might affect the developing brain and alter subsequen...

Introduction: PCSK1/3 gene mutations are known as a cause for congenital diarrhea and various endocrinopathies. Hypogonadotrophic hypogonadism and aberrant pubertal development due to pro-convertase dysfunction was not characterized yet. This study aimed to characterize the pubertal development in a family carrying the novel N309K mutation in the PCSK1 gene.Methods and Results: We Identified 2 siblings who presented with severe congenital diarrhea follow...

Background: Antibiotics have direct effects on human gut, and infant’s intestinal microbiota is particularly vulnerable for perturbation. In mice it was shown that antibiotics increased body fat mass due to changes in composition of the intestinal microbial community. Therefore, antibiotic exposure during infancy could be associated with increase in body mass also in man.Objective and hypotheses: To evaluate impact of antibiotic exposure, and its ti...

Background: The ideal pattern of postnatal growth for preterm infants is unknown. Existing preterm growth charts are based on cross-sectional birth size data, and fail to describe longitudinal growth adequately.Objective and hypotheses: We collected longitudinal growth data of healthy preterm infants and constructed growth references from birth to term equivalent age (TEA). Our aim was to describe optimal growth under contemporary neonatal care, in compa...

Background: Inhaled corticosteroids (ICS) are used frequently in infants with recurrent wheezing. They may have potential adverse effects as treatment of childhood asthma with ICS decreases growth velocity and adult height. ICS treatment in infancy is thought to alter linear growth only little, but however, studies on ICS use in infancy and linear growth are practically lacking.Objective and hypotheses: To evaluate the impact of ICS on linear growth duri...

Background: Hypothalamic–pituitary–gonadal (HPG) axis activates soon after birth, and this ‘minipuberty’ provides a transient phase for evaluation of the function of the HPG axis in early infancy. Substantial differences in postnatal gonadotropin secretion have been reported between preterm (PT) and full-term (FT) boys and girls. Therefore, when evaluating gonadotropin levels in infants, time from birth (calendar age), maturity (postmenstrual, PM age) and s...

Background: Decreased reproductive rates have been reported in men born prematurely. This potentially relates to an impaired Sertoli cell proliferation during the postnatal hypothalamic-pituitary-gonadal activity, which has been suggested to have a role in later reproductive capacity.Objective and hypotheses: To compare the levels of Sertoli cell markers in premature (PT) and full-term (FT) boys in infancy.Method: Serum AMH and inh...

Background: Growth hormone (GH) replacement as daily s.c. injections for patients with adults with GH deficiency (AGHD) can be cumbersome. Somapacitan (Novo Nordisk), a once-weekly reversible albumin-binding GH derivative, has been shown in short-term trials to be well tolerated in healthy adults and in patients with AGHD.Objective and hypotheses: This trial was a multinational, multicentre, randomised (2:1), open-label, active-controlle...