ESPE Yearbook of Paediatric Endocrinology

In Brief: The authors use cell-tracing of Axin2-positive chondroprogenitor cells in the resting zone during and after food restriction to demonstrate that nutrient availability influences the balance between accumulation and differentiation of resting zone chondrocytes and that this is influenced by Igf-1.Commentary: Catch-up growth is the rapid growth that occurs after growth-inhibiting conditions have been cured or removed. The molecular mechanism for ...

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: Sci Rep. 2020;10(1):3078. doi: 10.1038/s41598-020-59743-4Short summary: This study describes a specific mechanism of reduced bone formation secondary to hyperglycaemia. In hyperglycaemic states, advanced glycation end products (AGEs) downregulate the highly selective magnesium transporter expression of NIPA2 in osteoblasts. This results in ma...

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...

To read the full abstract: Endocrinology. 2019;160:1363–1376.Pregnancy-associated plasma protein A2 (PAPP-A2) is a metalloproteinase which, by cleaving IGFBP-3 and IGFBP-5, releases free IGF-I from the ternary complexes and regulates its bioavailability. PAPPA2 gene mutations (p.D643fs25* and p.Ala1033Val) have recently been described in various members of two unrelated fam...

To read the full abstract: Diabetes Care. 2020;43(2):405–410. doi: https://pubmed.ncbi.nlm.nih.gov/31727688/Here, Gawlik et al. describe the urinary steroid metabolomic profile associated with insulin resistance (IR) as assessed in a cohort of 87 non-syndromic obese children and adolescents.To explore the previously defined novel concept of a disease-spe...

Ze’ev Hochberg was fascinated by growth, a dominant topic during his long-standing career. He published 153 articles on growth according to PubMed, the first 1980 [1] and the last in April this year [2]. Synergy between thyroid hormones and growth hormone was recognized decades ago [3] but Ze’ev Hochberg added an important piece of knowledge on the impact of hypothyroidism on the growth plate as well as the effects of thyroid hormones, growth hormone and the combinat...

To read the full abstract: Hum Mol Genet. 2017 Nov 15;26(22):4315-4326These two papers describe the association of heterozygous FOXA2 mutations with hypopituitarism and hyperinsulinism. The forkhead/winged helix transcription factor Foxa2 is a major upstream regulator of Pdx1, a transcription factor necessary for pancreatic development and also plays a role in the developmental biology of the pituit...

To read the full abstract: J Endocrinol. 2020:JOE-20-0066.R2. PMID: 32380472.Human physiology and behavior are adapted to daily environmental cycles by means of endogenous circadian clocks. Biological tasks, including cell proliferation, differentiation, energy storage and immune regulation, are preferentially confined to specific periods of the 24-h cycle. This circadian rhythm derives fro...

Brief summary: The so far largest GWAS study on thyroid function in 72’167 individuals testing 8 million genetic variants identified 92 common genetic variants associated with variation of TSH and FT4 in the reference range. These variants explained 21% of the variance in normal thyroid function, however many identified variants were localized in genes without obvious link to thyroid function (1). This GWAS paper was commented in the 2019 Yearbook. The same research team ...