ESPE Yearbook of Paediatric Endocrinology

Brief summary: In this cross-sectional study, 11-oxygenated androgens were measured in morning serum samples from 290 healthy adults (125 men, age 22–95 years; 165 women, age 21–91 years) by LC–MSMS (liquid chromatography, tandem mass spectrometry) to generate normative values across the lifespan. In a subset of volunteers (n=83), additional measurements were performed in saliva to assess diurnal and menstrual cycle-dependent variation. In general, it w...

Brief summary: Two unrelated patients with a disorder of sex development (DSD) phenotype of partial androgen insensitivity (PAIS) showed heterozygous variants in the DAAM2 gene. Their genital skin fibroblasts showed reduced dihydrotestosterone-stimulated androgen receptor (AR) activity. Extensive basic studies revealed the underlying mechanism of the DSD in which DAAM2-regulated actin polymerization at the ligand-inducible androgen receptor is required for androgen-st...

Brief Summary: This retrospective cohort study investigated referral closures due to reidentification with birth-registered sex at the Child and Adolescent Health Service Gender Diversity Service in Perth, the sole provider of gender-affirming medical treatment for individuals <18 years in Western Australia. Out of 548 referral closures, 29 reidentified with birth-registered sex. Only 2 did so after having started medical treatment, constituting 1.2% (95% CI, 0.1%-4.4%) of...

Brief Summary: The authors performed exploratory analyses to identify distinct eGFR trajectories associated with risk of albuminuria in 377 adolescents with T2D. The findings underscore the importance of annual GFR assessments in young people with T2D.Comment: Diabetic kidney disease (DKD) is the primary microvascular complication in adolescents with T2D, and is a leading cause of morbidity and mortality. Albuminuria is the earliest clinical indicator of...

Brief Summary: This multicenter, double-blind, randomized, placebo-controlled trial evaluated the effects of vitamin D supplementation (14,000 IU D3 weekly for 3 years) on fracture risk and other bone health indicators in 8,851 schoolchildren aged 6–13 years in 18 public schools in Mongolia, where vitamin D deficiency is highly prevalent with a high fracture burden.Vitamin D3 doses were given during weekly face-to-face visits in schools. Families co...

Brief Summary:This study tested the discriminatory role of 11-oxygenated androgens to diagnose PCOS in women with obesity, and with ( n =132) or without ( n =83) PCOS. No discriminatory role was found. Instead, insulin resistance, blood pressure, obesity and androgens were the principal components characterizing obese PCOS, while no major characteristic finding defined obese non-PCOS women.Numerous studies have addressed the mechanism o...

In Brief: This case report describes the successful use of RZ358, a novel human anti–insulin receptor monoclonal antibody therapy, in a patient with severe, refractory hypoglycaemia due to metastatic insulinoma.The tumour and resulting severe hypoglycaemia had been resistant to treatments with octreotide, lutetium Lu 177 dotatate radionuclide, diazoxide, everolimus, dexamethasone, pasireotide, and glucagon – and the patient, a 55-year old man w...

Nat Med. 2020 Oct;26(10):1583–1592 Abstract: https://pubmed.ncbi.nlm.nih.gov/32807933/In brief: Improved treatments for osteoarthritis and other degenerative joint diseases are urgently needed. This study demonstrates, for the first time, that the synovial microenvironment can be modified to allow resident skeletal stem cells to form hyaline articular cartilage and thereby reg...

Proc Natl Acad Sci USA. 2020 Jun 16;117(24):13680–13688. 10.1073/pnas.1921676117. PMID: 32493750.On the search for a genetic cause for 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants were found in the 4th zinc finger (ZF4) of the Wilms tumor 1 gene (<em...

J Clin Endocrinol Metab. 2021 Mar 25;106(4):1111–1128.https://pubmed.ncbi.nlm.nih.gov/33382876/In this multicentre patient cohort study, the authors investigated the use of targeted metabolomics to discriminate primary hypertension (PHT) from endocrine forms of hypertension (EHT). They identified 16 metabolites that help to discriminate between PHT and EHT.Arteri...