ESPE Yearbook of Paediatric Endocrinology

christine.martinez-vinson@aphp.fr J Pediatr Gastroenterol Nutr. 2021; 73: 231-235. PMID: 33908740.Brief Summary: This retrospective study evaluated longitudinal changes in bone mineral density (BMD) in children and adolescents with Crohn disease (CD), and the risk factors for low BMD. Low BMD (defined as BMD Z score ≤ -2.0) was present in 18.7% of patients at diagnosis and in 16% at ...

anton.holmgren@regionhalland.se Pediatr Res. 2021 Jul;90(1):184–190. doi: 10.1038/s41390-020-01234-3.Brief Summary: This observational study compared the pubertal growth spurt of children in a Spanish study group with severe early onset obesity to children in a Swedish community-based study. The authors show that childhood obesity i...

Brief summary: In utero the embryo and the fetus are protected by different mechanisms from too high levels of maternal thyroid hormones after transplacental passage such as deiodination and sulfatation of T4 and T3 in the placenta as well as in the tissues of the unborn child (1,2). Maternal hyperthyroidism and its treatment with anti-thyroid drugs is associated with different congenital malformation. However, so far, it remains unclear, which malformations are linke...

Brief Summary: This elegant study analysed a phenotype-driven screen for developmental lethal mouse genes to identify candidate genes that drive hypothalamo-pituitary phenotypes.The authors used a publicly-available phenotype-driven screen, performed by the mouse models phenotyping facility at the DMDD Wellcome Sanger Institute, to identify key genes important in pituitary development. High-Resolution Episcopic Microscopy (HREM) from 209 knockout lines w...

To read the full abstract: JCI Insight. 2018;3(2). pii: 98394The (human) adrenal cortex undergoes massive changes in structure and function from fetal to postnatal life, with the first consisting of a small outer definitive zone and a larger inner fetal zone, and the latter finally consisting of three distinct layers, namely the zona glomerulosa (ZG), fasciculata (ZF) and reticularis (ZR). Ho...

Objective: To evaluate the nutritional status in patients with type 1 diabetes mellitus (DM1) or latent autoimmune diabetes in adults (LADA).Methods: Observational transversal clinical study in patients with DM1/LADA. Nutritional assessment was performed using bioelectrical impedance analysis (BIA), dynamometry, ultrasound of rectus femoris muscle and subcutaneous fat tissue, functional tests and laboratory parameters. Statistical analysis was performed ...

Nature. 2021;596(7872):393-7. doi: 10.1038/s41586-021-03779-7.PubMed ID: 34349265Brief summary: This study analysed genome-wide association array (GWAS) data on ~200 000 women of European ancestry to identify 290 separate genetic signals associated with normal variation in age at natural menopause (ANM). Experimental alterations of key identified genes in mouse models confirmed their impac...

To read the full abstract: Development 2017;144:3289-3302Aberrant development of the anterior pituitary can lead to congenital hypopituitarism (CH) in humans and hence understanding how this organ develops is critical to understand CH. The anterior pituitary develops in intimate contact with the prospective hypothalamus, which secretes growth factors that are required for the pituitary gland to grow...

EBioMedicine. 2025 Mar;113:105624. doi: 10.1016/j.ebiom.2025.105624Brief summary: This study examined 30 individuals with 46,XY DSD carrying NR5A1/SF-1 variants and finds that co-existing variants in other DSD-related genes may explain their diverse phenotypic variability. The findings support an oligogenic rather than monogenic model of DSD. This has important implications for d...

Brief Summary: The SF1next study describes a cohort of 197 individuals with NR5A1 / SF-1 variants, identified through the I-DSD registry and a research network involving 55 centers across 18 countries. NR5A1/SF-1 plays a crucial role in the development and function of human sex and steroid producing organs, and variants in this gene can significantly affect early sex determination and differentiation. This can lead to a wide spectrum of differences i...