ESPE Yearbook of Paediatric Endocrinology

In Brief: The authors use cell tracing approaches in a PRMT5flox/Δ Ctsk-Cre strain to label periosteal stem cells (PSCs) and show that PSCs are not only essential for intramembranous bone formation but also for endochondral bone formation. The study identifies the role of PSC derived indian hedgehog (Ihh) in maintaining growth plate homeostasis and postnatal skeletal growth.Commentary: The skeleton harbors stem cells in three independent ...

Brief summary: In this retrospective clinical study Ehua AM et al., reports the diagnostic and management characteristics of 13 individuals whose karyotype could be studied out of 33 DSD patients, followed over 17 years by 2 pediatric surgery departments in Abidjan.Serum testosterone could be measured only in 9 of 13 patients. Four patients were treated medically with topical androgen only. One patient had feminizing genitoplasty, and 2 had masc...

Brief Summary: This study provides an in-depth exploration of the genetic underpinnings and clinical phenotypes associated with congenital hypopituitarism (CH) and related disorders. The authors analyse a large cohort (1765 patients) with or at risk of CH from 1563 unrelated families by Sanger, whole exome (WES) or whole genome sequencing (WGS). Genetic variants were identified in 10% of the CH cohort.CH is characterized by the insufficient pro...

Brief Summary: This cohort study examined the longitudinal growth trajectory of children with congenital hypothyroidism (CH) during the first 3 years of life. It involved 1474 children in Isfahan Province, Iran, and analyzed data from 2002-2022 since the initiation of CH screening (May 2002).Overall, 38.8% of children with CH were born of consanguineous marriages and 61.6% were delivered by cesarian section, one of the highest rates in the world1,2<...

Brief Summary: Two Japanese children with Silver Russell Syndrome (SRS) are reported, one with a de novo pathogenic frameshift sequence variant (Case 1) and the other with a 3.4 MB de novo microdeletion (Case 2) in HMGA2 (High Mobility Group AT-hook 2; OMIM *600,698). Both genetic findings meet the criteria established by the ACMG/AMP1. Case 1 had 5 of 6 (no body asymmetry) and Case 2 had 4 of 6 (no prominent forehead or body asymmetry) of...

Brief Summary: This genome-wide association study (GWAS) meta-analysis of 271,040 European participants investigated the genetic determinants of thyroid function, including reference range serum TSH, FT4, free and total T3, proxies for metabolism (T3/FT4 ratio), as well as dichotomized high and low TSH levels. It identified 259 independent associations for TSH, 85 for FT4, and novel associations for thyroid hormone (TH) metabolism (T3/FT4 ratio). Genetic variants explained 14....

To read the full abstract: BMJ. 2018 Jan 10;360:j5644On the basis of scientific evidence and dietary recommendations, several diet quality scores have been developed to evaluate the healthfulness of dietary patterns. Previous studies show that improvement in adherence to healthy dietary patterns is associated with less weight gain (2, 3, 4). But, until now, no study had assessed the interaction betwe...

To read the full abstract: Nature Communications 2018;9:636We know that good nutrition early in life has profound and long-lasting effects on body weight in later life. Malnutrition during pregnancy or infant formula feeding may be stored on the offspring genome as epigenetic memory and persist into adulthood, thereby influencing the susceptibility to metabolic diseases, such as obes...

To read the full report: https://www.fda.gov/NewsEventsThe report, issued by the U.S. National Toxicological Program (NTP), presents the initial results of a multimillion dollar study conducted for more than 5 years by scientists at FDA’s National Center for Toxicological Research. It looked at the effects of different doses of BPA evaluating chronic and e...

Brief Summary: This study identifies a novel cause for congenital adrenal hypoplasia and provides evidence that Wnt/β-catenin signaling plays an important role in the development of human adrenal cortex.Comment: Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient glucocorticoids and/or mineralocorticoids. The major cause of childhood-onset PAI is congenital ad...