ESPE Yearbook of Paediatric Endocrinology

Nat Rev Nephrol. 2019 May 8. doi: 10.1038/s41581-019-0152-5. [PMID: 31068690].Abstract: www.ncbi.nlm.nih.gov/pubmed/?termZ31068690In brief: In this Evidence-Based Guideline on X-linked hypophosphataemia, the authors identify the criteria for diagnosis of this disease, provide guidance for medi...

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...

patricia.iozzo@ifc.cnr.it Int J Obes (Lond) 2022, 46(1):50–58. doi: 10.1038/s41366-021-00941-zBrief Summary: This experimental study was conducted with fa/fa rats that have a homozygous defect in the leptin receptor and therefore severe leptin resistance. The animals develop extreme obesity, diabetes and metabolic syndrome. The study of y...

regis.coutant@chu-angers.fr J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1568–e1576. doi: 10.1210/clinem/dgab845https://pubmed.ncbi.nlm.nih.gov/34918072/Brief Summary: This cross-sectional study describes how levels of Sertoli and Leydig cell hormones differ between 351 obese and overw...

Proc Natl Acad Sci U S A. 2021 Jul 20;118(29):e2101671118. doi: 10.1073/pnas.2101671118Brief Summary: This cell model study shows that cholesterol is essential for the transcriptional repressor and cell differentiation activities of brain acid soluble protein 1 (BASP1).Cholesterol biology covers a spectrum of functions spanning from the biosynthesis of Vitamin D, bile a...

To read the full abstract: J Bone Miner Res. 2019;34(12):2171–2182.In brief: The effect of RANKL inhibition on fibrous dysplasia development is explored here using a mouse model of a fibrous dysplasia-like disorder. Anti-mouse RANKL monoclonal antibody treatment prevented the development and growth of lesions. However, after discontinuation of anti-mouse ...

To read the full abstract: J Clin Endocrinol Metab. 2019; pii: jc.2019–00563.Primary aldosteronism (PA) is one of the most common causes of secondary hypertension, affecting ~6% of the adult general hypertensive population. Patients with PA are at increased risk of cerebrovascular and cardiovascular morbidity, renal abnormalities and metabolic syndrome. The activity of mTORC1 ...

To read the full abstract: Nature 2018;560:489–493.This paper reports competitive gut colonization experiments in mice. Compared to adult mice, neonatal mice showed much higher expression of the flagellin receptor Tlr5 in their intestinal epithelial cells, and exposure to this protein during the first 2 weeks of life, before weaning, was crucial in determining lifelong...

Brief Summary: This translational study identifies a new susceptibility region within the estrogen receptor α ( ESR1 ) gene, linked to cryptorchidism (CO) and hypospadias (HS), the most common birth defects of the male genital tract. CO occurs in approximately 1:100 male births and is 3-times more common in premature infants, while HS affects about 1:300 male births. The prevalence of both conditions has increased over the years, with premature infants showing hi...

Brief Summary: This longitudinal study provides an in-depth analysis of the clinical, endocrine, and testicular ultrasound (US) patterns in Klinefelter Syndrome (KS) from infancy through puberty and into adulthood, highlighting the progression of testicular degeneration in these patients.In this study, 155 KS patients with the classical 47,XXY karyotype, aged 7 months to 55 years, were prospectively evaluated at a single referral center following a stand...