ESPE Yearbook of Paediatric Endocrinology

Brief summary: In this study of 699 youth 10 to < 18 years old with <2 years duration of type 2 diabetes (T2D) at 15 centers across the USA, baseline HbA1c level, and the change in HbA1c level in the first 6 months are predictors of rapid glycemic deterioration. In addition, subsequent loss of control can be predicted based on both baseline and ongoing clinical characteristics.Comment: The population of individuals with youth-onset T2D is heterog...

Brief summary: In the prospective PROCURE study cohort (n=1783), 11-oxygenated androgens were studied in all men with newly diagnosed localized prostate cancer before undergoing radical prostatectomy. Data were related to clinical outcomes (e.g. metastatic disease). Levels of the adrenal androgen precursor 11b-OH-androstenedione were associated with progressive disease, while levels of the predominant bioactive 11-ketotestosterone and its metabolite 11-ketoandrosteron...

Brief Summary: This open-label, randomised phase 3 trial investigated the efficacy and safety of subcutaneous infusions of Dasiglucagon1, a glucagon analogue, as an add-on to standard of care (SoC) treatment in infants and children with congenital hyperinsulinism (CHI).Patients had documented CHI aged 0.6 to 10.9y, who had ≥3 episodes of hypoglycemia/week, defined as self-measured plasma glucose (SMPG) <3.9 mmol/L. Part 1 (weeks 1-4)...

In brief: This report describes the efficacy and safety of burosumab during the open-label extension period of the original Phase 3 study (weeks 64-88) in 21 children with X-linked hypophosphatemia (XLH) who continued to receive burosumab or crossed over from conventional therapy to burosumab.Commentary: X-linked hypophosphatemia (XLH) is a rare inherited disorder of phosphorus metabolism caused by loss-of-function mutations in the PHEX gene, re...

In brief: This study investigated the effect of infigratinib, a selective and orally bioavailable FGFR1-3 inhibitor, administered at different doses or according to different dosing regimens, on bone growth in a mouse model mimicking achondroplasia (Fgfr3Y367C/+). This study was partially sponsored by a grant from BridgeBio/QED Therapeutics.Commentary: Achondroplasia is one of the most common constitutional bone diseases (> 300,000 affecte...

Brief Summary: this retrospective study describes clinical and biochemical parameters which, using the principal component analysis, help in the differential diagnosis between idiopathic central precocious puberty (ICPP) and premature thelarche (PT).Breast development in girls before 8 years of age may be related to progressive CPP but can sometimes simply be the consequence of premature thelarche without activation of the hypothalamic-pituitary-gonadal ...

In Brief: These authors investigated patients referred to the UK National Prion Clinic (NPC) for suspected prion diseases. They identified 8 individuals with a history of receiving treatment with cadaveric pituitary-derived growth hormone (c-hGH) and referred to, or reviewed by, the NPC between 2017 and 2022. None had a diagnosis of iatrogenic Creutzfeldt–Jakob disease (CJD) (on the basis of clinical presentation, neuroimaging and biomarkers and, in two cases, by postmort...

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...

To read the full abstract: Science 2020; 367(6484):eaay5012.These authors sequenced 929 whole-genome sequences from 54 geographically, linguistically, and culturally diverse human populations, as part of the Human Genome Diversity Project, a panel of global populations. The data represent African, Oceanian, and American-Indian populations. They identified 67.3 million single-nucleotide polymorphisms (SNPs), 8.8 million small insertions or deleti...

To read the full abstract: Genet Med. 2019 Jan;21(1):233–242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...