ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: BMJ. 2017 Jun 30;357:j2963This group of 5 transgender and non-medical professional authors has written a unique “What Your Patient is Thinking” article published in the BMJ. Their aim was to tell health care providers, and others who manage transgender people, how they want to be received and treated and what went wrong in many previous meetings with the healt...

Psychoneuroendocrinology. 2022; 136: 105625. PMID: 34920399https://pubmed.ncbi.nlm.nih.gov/34920399/Brief Summary: This is a systematic review and meta-analysis examined the relationship between cortisol and major depressive disorder in global youth (10–24 years old).Impaired regulation of the hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the de...

To read the full abstract: Support Care Cancer. 2020 Feb 11. Epub ahead of print. hess2@phoenixchildrens.comThe development of a second neoplasia is a major concern during the follow-up of childhood cancer survivors (CCS). Secondary cancers account for nearly 50% of non-relapse mortality at 5 years. Thyroid tumours represent 10-20% of subsequent neoplasia cases, due to the high sensitivity of the g...

Brief Summary:This study using mice and human models, shows that human gut bacteria Gordonibacter pamelaeae and Eggerthella lenta convert biliary corticoids into progestins through 21-dehydroxylation. It thereby shows that a class of immuno- and metabo-regulatory steroids are transformed into a class of sex hormones and neurosteroids. It also illustrates that gut hydrogen gas production is essential and sufficient to support this metabolic pathway, which is m...

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...

Brief Summary: This study investigated the genetic determinants of thyroid function in newborns and (pre)school children by analyzing the associations between single nucleotide polymorphisms (SNPs) previously identified in adults, and childhood TSH within the reference interval, and FT4 concentrations. It included three large population-based cohorts with data on genetic variants and thyroid function: Generation R (Netherlands), ALSPAC (UK), and BLTS (Australia), comprising 7,...

Brief Summary: This epigenome-wide association study (EWAS) aimed to identify differentially methylated positions (DMPs) and regions (DMRs) between Graves’ disease (GD) and Hashimoto’s disease (HD) in two independent patient cohorts from Australia (30 patients with GD and 30 with HD, discovery cohort) and Denmark (32 patients with GD and 32 with HD, replication cohort). Linear mixed models were used to test for differences in quantile-normalized β values of DNAm...

N Engl J Med. 2021 Aug 5;385(6):493–502. PMID: 34215024 doi: 10.1056/NEJMoa2107454. Epub 2021 Jun 26.Brief Summary: 6 patients with hereditary, life-threatening transthyretin amyloidosis were treated with a novel in vivo gene-editing therapeutic agent (NTLA-2001) based on CRISPR-Cas9 technology. The new agent was given intravenously in a single dose and was able to durably knockou...

To read the full abstract: Am J Hum Genet. 2020, Jan 2; 106: 121-8. doi: https://www.cell.com/ajhg/pdf/S0002-9297(19)30468-9.pdfProtein phosphatase 1, regulatory subunit 12a (PPP1R12A) is an important developmental factor involved in cell migration, adhesion, and morphogenesis. It is involved in the formation of myosin phosphatase and is regulated by phosphorylation.<p cla...