ESPE Yearbook of Paediatric Endocrinology

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: Science 2019;365:eaat7693.These authors performed a genome-wide association study on 493 001 participants of European-ancestry from the USA, UK, and Sweden to identify genes associated with sexual orientation. They found multiple loci implicated in same-sex sexual behavior indicating that, like other behavioral traits, non-heterosexual behavior is polygenic.As many as 4% to 10% of US individuals ...

J Clin Endocrinol Metab. 2018 Dec 1;103(12):4617–4627.doi: 10.1210/jc.2018-00052. PMID: 30124873This study shows for the first time that epigenetic changes in the androgen receptor gene (AR) proximal promoter region may underlie a clinical phenotype of Androgen Insensitivity Syndrome (AIS) in individuals in whom no DNA sequence mutation in AR or ...

N Engl J Med. 2018 Sep 13;379(11):1042–1049.doi: 10.1056/NEJMoa1800024. PMID: 30207912This case report describes two sisters with 46,XX karyotype and hypergonadotropic hypogonadism – i.e. ovarian dysgenesis. They had normal general development and normal cognition. With estrogen replacement they developed normal sex characteristics and reached their target he...

To read the full abstract: Bone Marrow Transplant. 2018 Oct; 53 (10):1278Early cardiovascular disease is relatively common among childhood cancer survivors (CCS). A high risk of accelerated atherosclerosis and a 8.2-fold higher cardiac mortality rate have been reported (1). Arterial stiffness, an independent risk factor for cardiovascular morbidity and mortality in adults, seems to incre...

To read the full abstract: PLoS Med 2018;15:e1002681.These authors highlight a novel pregnancy risk factor, ‘late-pregnancy dysglycaemia’ in women who are obese but had normal glucose tolerance when they were tested for gestational diabetes mellitus (GDM) earlier in pregnancy. In a prospective cohort study of obese women without GDM (n<...

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(4):1696-1703How we measure steroids has been a constant debate in recent years because current routinely used immunoassays lack both specificity and sensitivity. Therefore, chromatographic, mass spectrometric methods have been pushed forward for their higher sensitivity and specificity, and for their advantage to provide multiple measu...

To read the full abstract: Cancer. 2017;123:4207-4214Metabolic syndrome and early cardiovascular disease are well-known long-term complications of cancer treatment during childhood, but the underlying causes are still unclear. It had been already demonstrated that the abnormalities of the immune system, that are characteristic of the elderly population, may become evident earlier in childhood cancer...

In Brief: This is a timely and well-written review on disorders of biomineralization and their fundamental mechanisms and by leading experts in the field. This is mandatory reading for any aspiring endocrinologist.Commentary: Biomineralization is a critical physiological process, and deviations from it can cause various diseases. Recent progress has furthered our understanding of the genetic, molecular, and cellular underpinnings of the disorders of biom...

In Brief: The authors use cell tracing approaches in a PRMT5flox/Δ Ctsk-Cre strain to label periosteal stem cells (PSCs) and show that PSCs are not only essential for intramembranous bone formation but also for endochondral bone formation. The study identifies the role of PSC derived indian hedgehog (Ihh) in maintaining growth plate homeostasis and postnatal skeletal growth.Commentary: The skeleton harbors stem cells in three independent ...