ESPE Yearbook of Paediatric Endocrinology

Proc Natl Acad Sci U S A. 2021 Nov 9;118(45):e2109721118. doi: 10.1073/pnas.2109721118. PMID: 34732576.Brief Summary: In a mouse model of KATP neonatal diabetes mellitus, this study examined the mechanisms of cognitive deficits and development delay observed in some patients with this form of diabetes. The cognitive deficits and development delay appeared to be independent of the diabetes per...

To read the full abstract: Diabetes Care. 2020;43(2):405–410. doi: https://pubmed.ncbi.nlm.nih.gov/31727688/Here, Gawlik et al. describe the urinary steroid metabolomic profile associated with insulin resistance (IR) as assessed in a cohort of 87 non-syndromic obese children and adolescents.To explore the previously defined novel concept of a disease-spe...

To read the full abstract: Arch Med Sci. 2020;16(1):34–41. doi: 10.5114/aoms.2019.88406Short summary: Alarming numbers are reported here on the high prevalence of T2DM in children and adolescents in Hungary. In this nationwide population-based study, the prevalence of T2DM in children aged 0–18 years rose between 2001 and 2006 from 20/100 000 to 36/100 000 and decreased ...

To read the full abstract: Science 2019;366(6464):447-53. doi: 10.1126/science.aax2342Short summary: Dissecting racial bias in health care systems revealed that a type of software program, which determines who receives access to high-risk health care management, routinely accepts healthier whites ahead of blacks who are less healthy.Comment: The yea...

Am J Clin Nutr. 2019 Jun 1;109(6):1696–1708. DOI: 10.1093/ajcn/nqz023• This systematic review and meta-analysis aimed to determine the impact of large-scale food fortification (LSFF) on health and nutrition outcomes in low- and middle-income countries (LMIC).• The authors demonstrate that LSFF increases serum micronutrient concentrations including iodine...

Prof Hochberg was an exceptional paediatrician, endocrinologist and paediatric endocrinologist. He had an inquisitive mind, interest in various and wide fields, love for music, operas, books and people. Even in the field of endocrinology, he always researched beyond the visible. His groundbreaking contributions to the field of paediatric endocrinology have left an indelible mark on the medical community.Comment: To distinguish among chil...

Brief summary: this early experimental study analyzed the effects of radiation on growth hormone secretion and short-term cell survival in a cell culture model of dispersed rat anterior pituitary cells.At the time of this study, growth retardation had already been recognized as a significant adverse effect of brain irradiation in humans and experimental animals. Such growth retardation had been associated with impaired secretion of growth hormone in chil...

To read the full abstract: Endocrinology 2019;160:1323–1332.Elevated prolactin levels suppress pulsatile release of GnRH from the hypothalamus, with a consequent reduction in pulsatile LH secretion from the pituitary. In this paper, the authors showed in mice that kisspeptin neurons located in the arcuate nucleus (ARC) respond to prolactin and conditional knockout of the prolactin r...

To read the full abstract: Diabetes 2017 Aug;66(8):2316-2322Biallelic mutations in the human lipopolysaccharide responsive beige-like anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections. Neonatal diabetes mellitus (...

Hum Mol Genet. 2020 Aug 3;29(13):2148–2161. doi: doi:10.1093/hmg/ddaa100. https://www.ncbi.nlm.nih.gov/pubmed/32452519This study explores the hitherto unknown role of FGF9 in human testis development. The authors use two mouse models that phenocopy the skeletal defects of dominant FGF9 mutations that cause skelet...