ESPE Yearbook of Paediatric Endocrinology

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...

N Engl J Med. 2021 Jul 8;385(2):189-191.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34233101/In brief: This study retrospectively analysed a cohort of patients with autosomal dominant hypocalcemia type 1 and recurrent hypocalcemic seizures treated with continuous subcutaneous PTH (1-34) infusions using insulin pumps. Compared to conventional therapy, PTH (1-34)...

To read the full abstract: Journal of Clinical Endocrinology and Metabolism vol. 105,8 (2020): dgaa135. doi: https://academic.oup.com/jcem/article/105/8/dgaa135/5807960This meta-analysis of 22 studies, comprising in total 21 801 individuals, evaluates the accuracy of self-assessment of pubertal stage by the patient him/herself, given the many challenges in obtaining cl...

To read the full abstract: J Pediatr 2018; 198: 260-264The incidence of T1DM in children <15 years is increasing at an overall annual relative rate of 3.9% (95% CI 3.6-4.2) [11]. The prevalence of GHD is estimated at approximately 1:4000 to 1:10000 [12-14]. Management of the very rare patients who have both T1DM and GHD raises questions of efficacy and safety of ...

To read the full abstract: Lancet Diabetes Endocrinol 2017;5:975-985Whereas most SGA children experience spontaneous catch-up growth leading to the achievement of normal adult height, approximately 10% remain short and are candidates for GH therapy. SGA subjects have increased cardio-metabolic disease risk [17] and the effects of GH treatment on blood...

Brief summary: This long-term longitudinal study of 437 Danish girls shows that AMH level measured in infancy is a useful tool to predict future ovarian activity.Anti-Müllerian hormone (AMH) is produced by granulosa cells in small ovarian follicles and thus reflects the ovarian reserve of resting primordial follicles (1). High AMH concentrations are observed in women with polycystic ovarian syndrome (PCOS) (2), while low age-specific AMH could be as...

Brief summary: A newly developed mouse model of congenital ablation of Dicer in kisspeptin neurons was used to identify a role for miRNAs in kisspeptin neuron activity and control of reproduction.The last few years have seen a shift in paradigm with the discovery of epigenetic mechanisms regulating GnRH neuron activity and thus puberty and reproduction. In particular, miRNAs appear to play a crucial role in the maturation and function of the hypothalamic...

Brief summary: In this experimental study, genome editing and in vitro pancreatic differentiation of human pluripotent stem cells (SC) were used to generate ZNT8 loss-of-function (LOF) SC-β-cells. These cells showed accelerated functional maturation, increased insulin secretion and improved resistance to metabolic stress. Transplantation of ZnT8 LOF SC-β-cells into mice with preexisting diabetes significantly improved their glucose levels.<...

Genet Med. 2021 Oct;23(10):1944-1951. doi: 10.1038/s41436-021-01237-3. Epub 2021 Jun 30. PMID: 34194003Brief Summary: This genetic and developmental study identified pathogenic mutations in GBP1in patients with congenital hypothyroidism investigated by exome sequencing. In the zebrafish model, knockdown experiments revealed hypothyroidism and disordered thyroid morphology. These d...

Science. 2021;372(6543):eabg2538. doi: 10.1126/science.abg2538.Radioactive iodine (131I)-exposed children in the region of Chernobyl (Ukraine) showed an increased incidence of papillary thyroid carcinoma (PTC) after the 1986 nuclear plant accident [1]. This so far the largest and most comprehensive study to characterize the genomic landscape of radiation induced PTC in a large n...