ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab, April 2020, 105(4):e1478–e1488Silver–Russell syndrome (SRS) is a rare condition associated with pre and postnatal growth retardation. The most common causes of SRS are 11p15 ICR1 loss of methylation (LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). Almost all patients with SRS have a history of intrauterine growth retardation (IUGR) and may be born small for gestational a...

To read the full abstract: Nat Commun. 2020 Feb 7;11(1):764.The signaling pathways involved in the regulation of early human development are largely unknown and the IGF system has been proposed to play a major role (1). The knowledge of mechanisms and actors involved in early life development is crucial to develop successful strategies for maintaining pluripotent human embryonic stem cells (hESCs).This sophisticated study ...

To read the full abstract: J Bone Miner Res. 2019;34(10):1851–1861.In brief: In a pediatric kidney transplant cohort, glucocorticoid treatment was independently associated with FGF23 levels. Using in vivo and in vitro rat model systems, blocking of Fgfr signalling rescued glucocorticoid-induced skeletal manifestations.Commentary</em...

To read the full abstract: Psychosom Med. 2019, Sep; 81: 629–40. doi: https://www.ncbi.nlm.nih.gov/pubmed/31232913The cross-sectional European dsd-LIFE questionnaire study assessed self-reported health outcomes, including psychiatric diagnoses and symptoms, sexuality (1) and body image (2) in 1040 adolescents and adults with DSD from six European countries. It compared mental health...

To read the full abstract: Thyroid. 2019;29:480–492.The thyroid axis is particularly responsive to critical illness. Adaptation processes of the thyroid axis to critical illness and prolonged fasting are well described as non-thyroidal illness syndrome. Non-thyroidal illness is mainly explained by two mechanisms: 1) peripheral inactivation of T4 to rT3 by decreased type-1 deiodinase...

Nat Rev Nephrol. 2019 May 8. doi: 10.1038/s41581-019-0152-5. [PMID: 31068690].Abstract: www.ncbi.nlm.nih.gov/pubmed/?termZ31068690In brief: In this Evidence-Based Guideline on X-linked hypophosphataemia, the authors identify the criteria for diagnosis of this disease, provide guidance for medi...

To read the full abstract: Behav Genet. 2018 Mar;48(2):95-108.See comment on 6.2...

To read the full abstract: Front Endocrinol (Lausanne). 2018 Apr 4;9:142Here, Martinez de LaPiscina et.al. investigated gene-gene interactions in 46,XY DSD. GATA4 is known to be associated with 46,XY DSD and has also been described to cause congenital heart defects. The authors characterize 3 individuals with 46,XY DSD, and GATA4 variants; 1 patient with and 2 without congenital heart defects....

To read the full abstract: Cell Rep. 2018; 22(5): 1236-1249Primary or secondary adrenal insufficiency (AI) results from adrenal failure or impairment of the hypothalamic-pituitary axis, respectively. The most frequent cause of primary AI is autosomal recessive congenital adrenal hyperplasia (CAH). Patients with AI need life-long treatment with exogenous steroids, which can be challenging, ...

To read the full abstract: Cochrane Database Syst Rev 2017;6:CD012651Here, the authors report an update of a Cochrane review, which was first published in 2003, and last updated in 2009. However, given the complexity of the evidence, the current update is now split into 6 reviews addressing diff...