ESPE Yearbook of Paediatric Endocrinology

Mol Cell Endocrinol. 2022 Apr 15;546:111570. PMID: 35051551, doi: 10.1016/j.mce.2022.111570. Brief Summary: This report emphasizes the importance of screening for copy number variants (CNVs) using parallel genomic techniques for diagnosing unsolved cases of complete androgen insensitivity syndrome (CAIS) as well as other DSDs, where traditional sequencing techniques fail to detect a genetic...

J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4520-e4530. doi: 10.1210/clinem/dgab448. Erratum in: J Clin Endocrinol Metab. 2021 Nov 15;: PMID: 34160619https://academic.oup.com/jcem/article/106/11/e4520/6308284Brief Summary: This cross-sectional study of 355 girls with Central Precocious Puberty (CPP) evaluates t...

J Clin Endocrinol Metab. 2022; dgac271. PMID: 35512387 https://pubmed.ncbi.nlm.nih.gov/35512387/Brief Summary: This study, in a series of independent patient cohorts, developed and validated a clinical score, based on the circulating concentrations of 13 major steroid hormones, to detect and subtype Congenital Adrenal Hyperplasia (CAH).Steroidogenesis is a complex proc...

s.molinari3@campus.unimib.it Eur J Endocrinol. 2021; 185: 717-728. PMID: 34519276.Brief Summary: This retrospective study, involving two Italian centers, enrolled post-pubertal female patients who had been treated with gonadotoxic therapies for hematological malignancies and/or hematopoietic stem cell transplantation (HSCT) before the age of 18 years. Several studies have r...

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...

JAMA. 2022;327(4):350-9. doi: 10.1001/jama.2021.23686.PubMed ID: 35076666Brief summary: This study assessed the penetrance of pathogenic and loss-of-function clinical variants in 2 large population-based biobank studies. It found that the penetrance of pathogenic/loss-of-function variants was variable but generally low among such unselected populations.We are increasing...

To read the full abstract: J Clin Invest. 2020 Feb 3;130(2):641–654. doi: 10.1172/JCI127378. PMID: 31845906.Congenital pituitary hypoplasia (CPH) is a multifactorial disorder, in which the pituitary has not developed correctly. The underlying mechanisms are mostly unknown, and studies are limited by the lack of appropriate disease models. This work modelled the effect of a novel OTX2</e...

To read the full abstract: Clin Endocrinol (Oxf). 2019 Dec;91(6):770–775. PMID: 31520536Diazoxide is the first line treatment for patients with hyperinsulinaemic hypoglycaemia (HH). The vast majority of patients tolerate diazoxide well without any major complications. However, diazoxide is known to cause several side effects including hypertrichosis, neutropaenia, thrombocytop...

To read the full abstract: Horm Res Paediatr. 2019;92:293–301Growth hormone deficiency (GHD) in childhood may influence bone accrual and bone peak mass, ultimately affecting bone density in adulthood (1). In prepubertal GHD children, there is no evidence of increased risk of fractures, but relative lower bone density measured by dual X ray absorptiometry (DXA) has been reported. Interpretation of DXA values in small children is biased by bo...

To read the full abstract: Trans Vis Sci Tech. 2019; 8(3):29. doi: 10.1167/tvst.8.3.29• This study investigates the feasibility of acquiring diagnostic quality fundus photographs in children using a child-friendly smartphone.• Photographs were acquired in 43 patients (mean age 6.7 years) with i.e. retinoblastoma, Coats’ disease, commotio retinae and optic nerve hypoplasia.•...