ESPE Yearbook of Paediatric Endocrinology

J Clin Invest 2022;132(4):e153752 doi: 10.1172/JCI153752Brief summary: Using rodent and primate models, this study shows a classical endocrine feedback loop, where bone-derived osteocalcin enhances adrenal steroidogenesis, and the inactivation of osteocalcin signalling impairs adrenal growth and steroidogenesis.This study provides important evidence on the existence of the bo...

J Clin Endocrinol Metab. 2021 Aug 18;106(9):e3495-e3505. doi: 10.1210/clinem/dgab357. PMID: 34010394https://academic.oup.com/jcem/article-abstract/106/9/e3495/6278376Brief Summary: This prospective interventional study evaluates the stimulation of inhibin B by exogenous FSH as a promising predictor of spontaneous ...

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: 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: In recent years, generation of human organoids of different tissues from human embryonic stem cells have been realized, e.g. intestine, liver, and lung among others. In contrast, so far all attempts to generate fully mature and functional human thyroid follicular cells from stem cells was not successful. Romitti et al. present for the first time successful generation of transplantable and functional human thyroid organoids derived from human embryonic s...

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...

To read the full abstract: Lancet Diabetes Endocrinol. 2019;7:695–706.The hallmarks of MCT8 deficiency are severe psychomotor retardation due to intracellular hypothyroidism in neuronal tissues and peripheral T3 thyrotoxicosis associated low weight, muscle wasting, high normal or increased heart rate and systolic blood pressure. TRIAC – the T3 analogue 3,3’,5-tri-iodothyroacetic acid – enters target cells in an MCT8 independe...

In Brief: The authors describe a wide range of studies. Firstly, observational studies showed that circulating taurine concentrations decline with age in mice, monkeys, and humans – and in the latter, low taurine was associated with metabolic disease (abdominal fat, blood pressure, Type 2 diabetes). They then gave oral taurine to mice throughout their lives and showed that this increased lifespan by 10–12% and improved functional outcomes of almost all tissues studie...

Lancet Diabetes Endocrinol. 2020;8:594–605. doi: 10.1016/S2213-8587(20)30153-4.Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting cl...