ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nat Rev Endocrinol 2017;13:588-598Central hypothyroidism has received much interest in recent years, partly due to the discovery of new causal gene mutations. This is a comprehensive review on several aspects of central hypothyroidism. It discusses prevalence, and its variation between different countries; pitfalls in diagnosis, including assay interference; concurrent...

To read the full abstract: J Clin Endocrinol Metab 2018;103:158-168Defects at the GNAS locus give rise to various phenotypes, several of which are associated with subcutaneous ossifications (SCOs), which cause significant morbidity among the affected individuals. A subgroup of patients with paternally inherited GNAS mutations have progressive osseous heteroplasia (POH), characterized by severe he...

Brief summary: This study investigated adipose tissue cellularity and functionality in more than 400 individuals with early-onset obesity (before the age of 18 years) versus late-onset of obesity (after the age of 18 years) compared to never-obese subjects. Individuals with obesity had increased subcutaneous white adipose tissue amounts resulting from a combination of increased size and numbers of fat cells.Interestingly, individuals with early-onset obe...

Ze’ev Hochberg was fascinated by growth, a dominant topic during his long-standing career. He published 153 articles on growth according to PubMed, the first 1980 [1] and the last in April this year [2]. Synergy between thyroid hormones and growth hormone was recognized decades ago [3] but Ze’ev Hochberg added an important piece of knowledge on the impact of hypothyroidism on the growth plate as well as the effects of thyroid hormones, growth hormone and the combinat...

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...

Brief Summary: This study investigated the functional diversity of SOX9-positive pituitary stem cells (PSCs) using sophisticated murine transgenics combined with single-cell mRNA-seq (sc-mRNAsq). It identifies that the ability of Sox9+ve PSCs to maintain progeny varies depending on their location and surrounding context.The authors elegantly show that the SOX9 transcription factor marks a population of stem cells in the pituitary gland. The authors FAC-s...

Brief Summary: This large cohort study of 27,997 individuals aged 3-18 years with obesity in Sweden examined the effect of obesity severity and obesity treatment on growth. Prepubertal individuals with class II (more severe) obesity were had higher height-for age and growth velocity than children with class I obesity. After onset of puberty, these individuals and especially boys, showed slower height velocity and a blunted growth spurt. The final height z score in this study p...

J Clin Endocrinol Metab. 2021 Mar 25;106(4):e1880–e1896. doi: 10.1210/clinem/dgaa660. PMID: 32936881.By studying placentas from normal weight mothers and obese (non-diabetic) mothers, the authors found that maternal obesity was associated with lower expression of nutrient transporters (such as for glucose and amino acids), surprisingly fewer immune cells, and compromised endocrine func...

Pediatr Res. 2021; 92(1):265-274. doi: 10.1038/s41390-021-01739-5. PMID: 34556810https://pubmed.ncbi.nlm.nih.gov/34556810/Brief Summary: This study provides a detailed set of normative reference values for steroidogenesis during the first 6 months of life, which may facilitate rapid testing of infants for steroidogenic disorders.<p...

Nature 2022;602(7895):156-161. https://pubmed.ncbi.nlm.nih.gov/34847567/Brief Summary: This study used a well-characterized mouse model of type 1 diabetes (T1D), the non-obese diabetic mouse (NOD), to examine the fate of CD8 T cells over the 5–30 week course of the disease. They found a stem-like autoimmune progenitor population in the pancreatic draining lymph nodes, which can self-re...