ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2021;106(11):e4716-e4733. PMID: 34136918Brief Summary: In this study, 149 children referred for suspected GH insensitivity (GHI) and short stature underwent genetic characterization through different techniques, including whole exome sequencing, targeted gene sequencing and array comparative genomic hybridization (array-CGH). Genetic alterations were identified in 80/149 subjects (54%), of which 45 were affected by GH&#1...

Endocrine. 2022 Jun;76(3):722-732. PMID: 35258786, doi: 10.1007/s12020-022-03017-8.Brief Summary: In this multicentre, randomized, double-dummy, double-blind crossover trial the authors investigated differences in metabolic parameters between the individuals with complete androgen insensitivity syndrome (CAIS) receiving testosterone versus estradiol replacement therapy. This is the first s...

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...

Elife. 2021 Sep 8;10:e69765. doi: 10.7554/eLife.69765. PMID: 34494548. https://elifesciences.org/articles/69765Brief Summary: Using a database for arcuate nucleus transcripts, this study identifies Nhlhl2 as a key regulator of the Kiss1 gene in male mice.The timing of puberty onset is i...

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...

T1DI Study Group. Nat Commun. 2022 Mar 21;13(1):1514. https://pubmed.ncbi.nlm.nih.gov/35314671/Brief Summary: This study of 5 birth cohorts of individuals at high risk for type 1 diabetes (T1D) used machine learning methods to explore trajectories from autoantibodies appearance to T1D progression. They identified 11 distinct latent health states and individuals progressed according to one o...

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...

The New England Journal of Medicine 2021;385(5):416-26. doi: 10.1056/NEJMoa2100165Brief Summary: This multicenter observational study assessed the cumulative incidence of diabetic complications in 500 adolescents with Type 2 diabetes (T2DM), followed from 2011 to 2020. After only 13 years from T2DM diagnosis, higher complication rates were observed than those reported for pediatric patients wit...

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...