ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Development 2017;144:3879-3893Regenerative medicine techniques are being widely investigated for organs without regenerative capacity, such as lung. Whether pluripotent stem cell derived thyroid organoids will be used in the future as a regenerative medicine approach to treat hypothyroidism is unclear. In the context of an easily available, very cheap and non-in...

To read the full abstract: Diabetes Care. 2017;40:1002-1009Quality of life (QOL) measures have increasingly been considered as end-points of medical interventions. Both general QOL and health- and disease-specific quality of life can be assessed using well defined and validated questionnaires. The TEENs study is an international, cross-sectional study of youth with T1DM. 5,887 participants were follo...

To read the full abstract: J Pediatr 2018;196:208-216.e2Insulin deficiency or resistance activates intracellular hormone-sensitive lipase; this increases the release of non-esterified fatty acids from triglycerides stored in centrally distributed adipose tissue. High circulating levels of non-esterified fatty acids increase hepatic triglyceride synthesis, which in turn increases secretion o...

Brief summary: In 2021 and 2022, two important publications on pediatric thyroid carcinomas revealed a distinct molecular landscape compared to adult thyroid carcinomas (1,2). Pediatric differentiated thyroid carcinoma was mainly caused by fusion oncogenes, especially in children younger than 10 years (93%), compared to children aged 10–15 years (28%) and 15–20 years old patients (14%). In contrast, PTC due to BRAF mutations showed increasing frequency with age (7%, ...

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...