ESPE Yearbook of Paediatric Endocrinology

Brief summary: Treatment of Graves’ disease comprises anti-thyroid drugs, radioactive iodine ablation or total thyroidectomy (1,2). While definitive treatment of Graves’ disease is widely used in adults, anti-thyroid drug treatment is often used in the pediatric age group over years (1,2). The presented prospective monocenter study provides detailed information on quality of life of adolescents undergoing total thyroidectomy.Two recent studies ...

Brief Summary: This prospective singleton birth cohort (N=288, 43.4% male) from Flanders, Belgium, was a subset of a larger longitudinal cohort (ENVIRONAGE). The authors used a targeted proteomic panel to measure 386 inflammatory-related proteins in cord blood and examined their associations with birth weight (BW), birth weight ratio (BWR - BW divided by the median BW for gestational age for sex and parity), and rapid infant weight gain (defined as [weight z score at 12 m minu...

Short summary: This study describes sex differences in fetal liver-specific androgen signalling that are altered in response to maternal obesity in baboons. It reveals that livers of male fetuses favour a pro-androgenic environment in response to maternal obesity by suppressing the activity of testosterone-metabolising CYP enzymes (CYP2B6 and CYP3A) and by reducing cytoplasmic and nuclear androgen receptor (AR-45) expression. By comparison and most interestingly, there were mi...

Brief summary: This randomized, multicenter, controlled, phase II study compared the effects of high-dose (HD) once-weekly PEGylated-recombinant human growth hormone (PEG-rhGH) to low-dose (LD) and to an untreated control group of children with idiopathic short stature (ISS) over a period of 52 weeks. PEG-rhGH was effective in increasing height gain in a dose dependent manner with both doses being well tolerated during the observation period.PEG-rhGH is ...

Adult Life After Childhood Cancer in Scandinavia Study Groupkenborg@cancer.dk Cancer 2021; 127: 3881-3892. PMID: 34297360.Brief Summary: This register-based cohort study analysed the likelihood of live birth among female childhood cancer survivors (CCSs) diagnosed in between 1943 and 2006, in comparison with the general population. The prevalence of first live birth was lower in CCSs compared to matched con...

Nat Metab. 2021;3(11):1552-68. doi: 10.1038/s42255-021-00481-w.PubMed ID: 34697471Brief summary: This study identified a genetic locus on mouse chromosome 17, containing the gene Ndufv2, that controls mitochondrial mass and function in adipose tissue in a sex- and tissue-specific manner. In female mice, Ndufv2 regulated the expression of 89 mitochondrial genes, with invol...

To read the full abstract: J Med Genet. 2019 Mar 15. pii: jmedgenet-2018-105714. [Epub ahead of print].Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours that can arise either from the adrenal medulla (pheochromocytomas, PCC) or from extra-adrenal paraganglia (paragangliomas, PGL). PPGLs are considered to be the most heritable of human tumours with at least...

Brief summary: Using a combination of expression studies in human embryos as well as functional studies in zebrafish and genetic sequencing of patient with congenital hypogonadotropic hypogonadism, this study identified a novel role for Jag1/Notch signaling in the development of GnRH neurons.GnRH neurons have a unique characteristic as they start life in the olfactory placode and then migrate into the hypothalamus during embryonic development, thanks to ...

Clin Genet. 2020 Sep;98(3):303-307. doi: 10.1111/cge.13805. PMID: 32617964.In this case series, David et al. describe clinical features of 4 patients in 2 unrelated consanguineous families with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation. Three of the patients had MRI findings consistent with pituitary stalk interruption syndrome (PSIS), a congenital anomaly o...

Proc Natl Acad Sci USA 2021 Feb 23;118(8):e2019152118. Abstract: https://pubmed.ncbi.nlm.nih.gov/33597301/In brief: Sox9 is the key transcription factor and master regulator of chondrocyte differentiation during skeletal development. This paper demonstrates that SOX9 also has a key role during postnatal life to maintain open growth plates and healthy articular cartilage by preventi...