ESPE Yearbook of Paediatric Endocrinology

Brief summary: Congenital central hypothyroidism is caused by thyrotropin deficiency, either isolated or in combination with other pituitary deficiencies. So far, mutations in five genes have been identified in patients with isolated thyrotropin deficiency: thyroid stimulating hormone subunit β (TSHβ), thyrotropin-releasing hormone receptor (TRHR), immunoglobulin superfamily member 1 (IGSF1), transducin-like protein 1 (TBLX1), and ...

Brief summary: Exposure to endocrine disrupting chemicals may have adverse effects on humans. Tissue specific organoids are a helpful model to study organ specific impact of compounds alone or in combination, at different doses and during different stages of tissue development (1). While such organoid models have been developed for different tissues, such models were lacking to study differentiated thyroid follicles and thyroid tissue during development and differentiation.</p...

Brief summary: In this study, 10 145 children of 1–8 years of age, selected from a prospective systematic cohort study and stratified according to HLA-risk categories for type-1-diabetes (T1D), underwent a combined evaluation of pancreatic autoimmunity, glucose metabolism and anthropometry at different timeframes. Diagnosis of T1D occurred in 131/10,145 children (1.3%). Faster height growth, both before and after age 3 years, was significantly associated with the appearan...

In Brief: The study established a novel rat model with a clinically relevant PLS3 mutation, which replicates the osteoporotic phenotype of early-onset PLS3-related osteoporosis. The findings suggest that treatment with alendronate or teriparatide improves bone mass and microarchitecture, suggesting their potential as effective treatments for early-onset osteoporosis caused by PLS3 mutations.Commentary: This study is an essentia...

In Brief: Current dogma is that lymphatic vessels are absent in bone and bone marrow. Using advanced 3D-imaging and mouse genetics, these authors show the presence of lymph vessels in bone. Moreover, they show that genotoxic stress causes lymph vessels expansion and lymphangiogenesis in bone, which in turn promotes bone and hematopoietic regeneration.Commentary: The lymphatic system maintains fluid homeostasis, removes cellular waste products and produce...

Brief summary: This retrospective study compared the efficacy and tolerability profiles of leuprolide and triptorelin in patients with central precocious puberty and did not find any significant difference between the two drugs.Treatment with GnRH analogues represents the standard of care for central precocious puberty (CPP) in order to preserve adult height potential1. Leuprolide and Triptorelin are the most prescribed drugs (1,2). They are g...

Brief summary: This study describes the genetic and clinical characteristics of 3βHSD2 deficiency in children seen at a single center in Algeria. It describes clinical outcomes, including the frequency of adrenal rest tumors in this population.3β-hydroxysteroid dehydrogenase 2 deficiency (3βHSD2) is a rare form of congenital adrenal hyperplasia. This mixed longitudinal and cross-sectional study was performed in a single Algerian center bet...

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: This multicentre retrospective cross-sectional study provides critical insights into the epidemiology, clinical presentation, and neurodevelopmental outcomes of central congenital hypothyroidism (CCH).CCH is a rare disorder that occurs due to insufficient hypothalamic-pituitary stimulation of the thyroid, characterized by low total T4 (TT4) with either low, normal or slightly elevated TSH. Most newborn screening (NBS) programs for CH are p...

In brief: This article reviews the evidence and provides expert opinion on the safe and appropriate use of denosumab in children and adolescents with RANKL-mediated disorders such as giant cell bone tumours, fibrous dysplasia and juvenile Paget’s disease.Commentary: Receptor activator of nuclear factor κB ligand (RANKL) is expressed by osteogenic cells and induces osteoclast differentiation by binding to RANK on osteoclast precursors. Excessive...