ESPE Yearbook of Paediatric Endocrinology

Brief summary: This randomized, controlled study in healthy-weight individuals examined the effect of a daily high-fat/high-sugar (HF/HS) intervention over 8 weeks on fat and sugar preference, alterations of brain response to food and sensory associative learning. It addressed the question, whether the association between obesity and altered brain function is pre-existing, is secondary to obesity or is attributed to western diet.Current models of obesity...

Thyroid. 2022 Apr;32(4):459-471. doi: 10.1089/thy.2021.0535. PMID: 35044245Brief Summary: This study combines animal model and patient cohort data on the effect of hyperthyroidism and hypothyroidism at birth on adrenal gland development and function. The data revealed reciprocal effects of neonatal hyper- and hypothyroidism on adrenal development, activity of the adrenal steroidogenic pathway a...

Sex Dev. 2021;15(4):244-252. PMID: 34293745, doi: 10.1159/000515924.Brief Summary: This genetic study provides data of a large cohort of 140 patients with DSD who were screened for DHX37 variants.DHX37 emerges as a frequent cause of nonsyndromic 46,XY gonadal dysgenesis, and 46,XY testicular regression syndrome. Since the first description of the gene (1), <...

Nat Med. 2022;28(4):814-22. doi: 10.1038/s41591-022-01714-5.PubMed ID: 35314841Brief summary: This study performed large-scale metabolomic profiling across 14 000 adults from 4 cohorts and identified 17 steroid metabolites whose levels were reduced in individuals with prevalent asthma. The largest reductions were associated with inhaled corticosteroid (ICS) treatment, and these were valida...

To read the full abstract: Cell Rep. 2020 Jan 7;30(1):18–24.e5. doi: 10.1016/j.celrep.2019.12.009. PMID: 31914385.The hypothalamic-pituitary axis influences many body organ systems and its dysfunction can be fatal. A proper in vitro model is important for understanding the disease mechanisms affecting pituitary function. Based on their previous anterior pituitary modelli...

To read the full abstract: N Engl J Med. 2019 Jul 4;381(1):25–35.In brief: Inhibition of endochondral ossification in Achondroplasia leads to disproportionate short stature. In this phase 2 study, daily subcutaneous injection of vosoritide, a biologic analogue of C-type natriuretic peptide and a potent stimulator of endochondral ossification, results in sustained increase in t...

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 2319–29. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...

To read the full abstract: J Clin Endocrinol Metab. 2020, Mar 1; 105. doi: https://academic.oup.com/jcem/article-abstract/105/3/e222/5609091?redirectedFrom=fulltextThis cross-sectional study collected measures of genital development from 181 premature neonates, 378 term neonates, 308 babies up to 24 months, and in 111 babies with atypical geni...

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...

To read the full abstract: JCI Insight. 2018 Oct 18;3(20). pii: 99631.This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new f...