ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Clin Endocrinol. 2019;91:110–117.Idiopathic short stature (ISS) refers to a heterogeneous population of children with a height more than 2 SDS below the mean for age, sex, and population, in presence of normal birth size and body proportions, and without evidence of any identifiable cause. The use of next generation sequencing (NGS) has shown that a high p...

To read the full abstract: Nature Genetics 2018; 50: 26–41These authors combined data from 125 cohorts comprising more than 700,000 individuals to discover rare and low-frequency (R/LF) coding single nucleotide variants (SNVs) associated with BMI, thereby identifying novel potential targets for the treatment of obesity. They identified 14 R/LF coding SNVs in 13 genes associated with...

To read the full abstract: Sex Dev. 2018;12(1-3):123-134There is a paucity of psychological follow-up studies in DSD patients. This is especially problematic since differences in sex development often affect the individual in fundamental ways that are related to their self-perception and social experiences. In this paper, the authors explain, in an illustrative way, the different strategies that can ...

Front Endocrinol (Lausanne). 2022 Mar 16;13:869019. doi: 10.3389/fendo.2022.869019. PMID: 35370973. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8966543/Brief Summary: This mouse study explores the function of alpha-tanycytes, which are neurogenic stem cells located in the medio-basal hypothalamus and expres...

Psychoneuroendocrinology. 2022; 136: 105625. PMID: 34920399https://pubmed.ncbi.nlm.nih.gov/34920399/Brief Summary: This is a systematic review and meta-analysis examined the relationship between cortisol and major depressive disorder in global youth (10–24 years old).Impaired regulation of the hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the de...

To read the full abstract: J Bone Miner Res. 2019;34(10):1851–1861.In brief: In a pediatric kidney transplant cohort, glucocorticoid treatment was independently associated with FGF23 levels. Using in vivo and in vitro rat model systems, blocking of Fgfr signalling rescued glucocorticoid-induced skeletal manifestations.Commentary</em...

J Clin Endocrinol Metab. 2020 Dec 1;105(12): dgaa585.https://pubmed.ncbi.nlm.nih.gov/32844182/The aim of this histological study was to investigate DNA methylation and expression of genes encoding steroidogenic enzymes in benign adrenocortical tumors. The findings suggest that DNA methylation plays a regulatory role in CYP11B2 expression and may contribute to aldosterone hypersecretion in a...

Lancet Child Adolesc Health. 2021 Sep;5(9):662-676. doi: 10.1016/S2352-4642(21)00088-2. Epub 2021 Jun 30; PMID: 34214482.Brief Summary: This comprehensive guideline defines the role of cerebrospinal fluid tumor markers, whole-body imaging, and the indications, timing and risks of stalk biopsy, as well as criteria for discharge in children and young people with idiopathic pituitary stalk...

To read the full abstract: Nat Commun 2018;9.400Pheromones play a crucial role to identify potential mates and sexual motivation in mice. These molecules are detected by a specialized circuit which initiates in the nasal septum and then relies on GnRH neurons in the hypothalamus in a sex-dependent manner. Female pheromones induce LH/testosterone release in male mice whereas male pheromones i...

Brief summary: This retrospective study compared the efficacy and tolerability profiles of leuprolide and triptorelin in patients with central precocious puberty and did not find any significant difference between the two drugs.Treatment with GnRH analogues represents the standard of care for central precocious puberty (CPP) in order to preserve adult height potential1. Leuprolide and Triptorelin are the most prescribed drugs (1,2). They are g...