ESPE Abstracts

Children affected by idiopathic infantile hypercalcemia (IIH) may develop polyuria, polydipsia, failure to thrive, developmental delay and nephrocalcinosis already during the first weeks of life. Elevated levels of activated 1-,25(OH)2D3 have been shown to cause the characteristic increase in serum calcium levels in this disorder. Two major underlying genetic causes have been identified so far: in IIH type 1 loss-of-function mutations in CYP24A1 ...

Background: A 3.6-year-old Caucasian male presented with rapid onset of deep voice, facial hair, Tanner stage 2 testes, Tanner stage 3 pubic hair, penile length 9.5 cm, growth velocity (GV) 13.1 cm/year, and bone age 7 years. Evaluation was consistent with central precocious puberty and ruled out other pathology. Standard weight-based gonadotropin-releasing hormone agonist (GnRHa) therapy was initiated. GV increased to 16.6 cm/year, puberty advanced further, and bone age was 1...

Catch-up growth (CUG) is characterized by a period of supranormal height velocity following a transient period of growth inhibition. The two classical hypotheses on the mechanism are the neuro-endocrine hypothesis (a central mechanism that would recognize the degree of mismatch between actual size and target size) and the growth plate hypothesis (local regulation of growth according to a preset cellular program of senescence, characterized by decreasing growth proliferation ra...

The pervasiveness of noncoding transcription has revolutionized our understanding of gene regulation. Although not yet fully catalogued in terms of numbers, mammalian genomes express a broad spectrum of, small and long, noncoding RNAs. Whereas small noncoding RNAs like microRNAs and their role in energy metabolism and glucose handling are rather well understood, we have little understanding concerning the metaboregulatory properties of those 10,000s of long noncoding RNAs (lnc...

Background: The children had normal 21-hydroxylase screening. An atypical form of congenital adrenal hyperplasia was initially suspected. The first child (female) had hyponatremia, hyperkalemia, elevated ACTH, and elevated androgens at birth. The second child (male) presented at 16 days with hyponatremia, hyperkalemia, normal cortisol, very elevated renin, low aldosterone, and elevated deoxycortisol. The third (female) and fourth (male) siblings had similar electrolyte abnorma...

The many false-positive diagnoses of IIGHD do not automatically imply that re-testing is needed. Instead, the diagnostic procedure should be improved. Still, re-testing of children can be useful. Regarding the timing, re-testing within 1-2 months would only extend the diagnostic procedure. Re-testing after one year may be a useful option if the growth response appears insufficient. The current approach of re-testing at near-adult height (NAH) is associated with highest GH wast...

In healthy humans, plasma glucose excursions depend on the time of day of glucose ingestion, with higher glucose tolerance in the morning compared to the evening. Recent studies using a circadian desynchrony protocol clearly demonstrated that the diurnal rhythm in glucose tolerance is robustly regulated by the circadian timing system, separate from behavioral and environmental changes. The mammalian circadian timing system consists of a central brain clock and peripheral clock...

Introduction: GLP-1 analogues are promising agents for the pharmacotherapy of obesity due to their combined effect on metabolic signalization and eating behavior. The GLP-1 analog liraglutide is registered in Europe for therapy of obese adolescents aged 12-17 years since 2021. According to clinical studies, liraglutide administration leads to a mean weight loss 4.6%. We summarize early real-life experience with this novel therapy.<strong...

Background: Growth hormone (rGH) treatment is an approved growth promoting therapy in children born small for gestational age (SGA) without spontaneous catch-up. SGA infants may be born either full-term or premature. Prematurity is an additional risk factor for adult short stature. Premature children born SGA may potentially be affected by combination of the effects of prematurity and SGA status. There are only few reports on premature SGA children treated wit...

Aim: To study the incidence of childhood thyrotoxicosis in five counties in central Sweden during 1990–2009 and to study the treatment outcome.Methods: Children below the age of 16 years diagnosed with thyrotoxicosis during the 20-years period and living in the study area were identified retrospectively. Data on the total number of children below 16 years of age living in the area during the study period was collected from the National Board of Stat...