ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Dev Cell. 2018 Nov 5;47(3):294–305.e7.Steroid hormones were believed to enter target cells via passive diffusion through the plasma membrane. This article shows that, at least for Drosophila, steroid hormones require a protein transporter to enter cells.Genomic functions of steroid hormones are mediated by intracellular nuclear recep...

To read the full abstract: Development 2017; 144:3533-3546Endochondral ossification is the process by which the embryonic cartilaginous scaffold of most bones is gradually replaced by bone. During this process chondrocytes proliferate, undergo hypertrophy and maturation and form the growth plate, essential for bone growth. Postnatal bone growth is tightly regulated by both systemic and lo...

To read the full abstract: Proc Natl Acad Sci U S A. 2017; 114(31): E6466-E6474Cortisol production is tightly regulated in a dynamic way within the hypothalamic-pituitary adrenal system, which seems further embedded in a wider steroidogenic regulatory network (SRN). Normally, the connection from ACTH to cortisol production is in line with the HPA axis, but there are stressful events, in which t...

To read the full abstract: NeuroImage 2017; 159: 236-247The results of this study suggest that, compared to adolescents with a low risk, lean adolescents with a high familial obesity risk show a weaker activation of neural systems subserving attentional self-regulation in response to food-denoting words. These same changes were found in overweight or obese adolescents. It is interestin...

J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa633. doi: 10.1210/clinem/dgaa633. PMID: 32898218.In this study, low risk pregnant women had an ‘early’ OGTT at 18-20 weeks of gestation and these results were correlated with the standard OGTT at 24-28 weeks. Pregnant women with Gestational diabetes mellitus (GDM) who had early OGTT still had a higher risk of delivering macrosomic in...

J Clin Res Pediatr Endocrinol 2020 Dec 30.doi: 10.4274/jcrpe.galenos.2020.2020.0216– The characteristics of 44 patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised as males were described– 15/44 (34%) were diagnosed before 2 years of age– The median final height was 149.2 (range 133–172) cmThis paper discusses an important ...

Nat Commun. 2022 Feb 9;13(1):775. doi: 10.1038/s41467-022-28120-2. PMID: 35140214Brief Summary: This in vitro study identified interactions between distinct cell populations of the thyroid gland and immune cells in the context of Hashimoto thyroiditis. The authors provide important new insights into the pathological mechanism of Hashimoto thyroiditis by characterizing the stromal ...

Front Genet. 2022 Mar 3;13:736988. PMID: 35309143, doi: 10.3389/fgene.2022.736988.Brief Summary: This molecular study highlights a novel mechanism of action of Mitogen-activated protein kinase kinase kinase 1 (MAP3K1) in the development of testicular dysgenesis.MAP3K1 is one of the most common genes that has been identified to cause 46, XY DSD and variants are attribu...

J Bone Miner Res. 2021 Aug;36(8):1594-1604.Abstract: https://pubmed-ncbi-nlm-nih-gov/33900645/In Brief: Enzyme replacement therapy with human ENPP1-Fc protein in Enpp1asj/asj mice, a murine model of ENPP1 deficiency, restored circulating levels of PPi, prevented clinical manifestations and decreased mortality.Commentary: ENPP1 deficiency causes gen...

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...