ESPE Yearbook of Paediatric Endocrinology

J Pediatr Adolesc Gynecol 2020 Oct;33(5):477-483. doi: 10.1016/j.jpag.2020.04.008– Body image and perceptions around feminizing genitoplasty were assessed in 59 children, adolescents and adults with CAH (raised and identifying as females) and their parents– Participants were more concerned with their overall appearance than with appearance of genitalia– A younger age and ...

To read the full abstract: Environ Health Perspect. 2019 Jan;127(1):17004.This population-based cohort study suggests sex-specific associations between prenatal exposure to perfluoroalkyl substances and subsequent altered pubertal development.Endocrine disrupting chemicals (EDCs) impact populations as much as individuals given their ubiquity in our e...

To read the full abstract: JAMA Pediatr 2018;172:1153–1160.This paper describes a gene-environment interaction twin study in 925 UK families (1850 twins). The heritability of childhood BMI was calculated by comparing the concordance in BMI at mean age 4.1 years between monozygous and dizygous twins; heritability was much higher among more obesogenic households (h2=8...

Brief summary: This Danish single-center retrospective study evaluated the occurrence of pathological findings on neuroimaging among children diagnosed with central precocious puberty (CPP).CPP incidence has been increasing over the last four decades (1) and is more prevalent in females than in males. Most cases are idiopathic (2) but brain magnetic resonance imaging (MRI) is routinely performed in order to exclude rare pathological causes.<p class="...

Front Pediatr 2019, 7:144. DOI: 10.3389/fped.2019.00144• The outcomes of feminizing genitoplasty of 46,XX individuals with CAH were reviewed in this cross-sectional study.• The study highlights the importance of cultural sensitivities, access to medical treatment and timing of the diagnosis on attitudes toward feminizing genitoplasty in Malaysia.<p cl...

Brief summary: This cohort study explored the potential link between self-reported age at puberty and markers of male fecundity.In this article, the authors explored pubertal timing as a determinant of male fecundity. This cohort study was based on the Danish National Birth Cohort which consisted of around 100 000 mother-child pairs recruited during 1996–2002. A little more than 1000 men aged 19 were evaluated for semen volume, sperm concentration, ...

Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49. PMID: 35353710, doi: 10.1530/EJE-22-0073.Brief Summary: This Endo-European Reference Network guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology, and the European Academy of Andrology. It provides extensive data on the hormonal management in young individuals with hypogonadism or DSD in nee...

To read the full abstract: Lancet Haematol. 2019 Jun; 6(6): e306.The St Jude Lifetime (SJLIFE) Cohort is a retrospective cohort of childhood cancer survivors (CCS), who are followed prospectively in order to evaluate long-term health outcomes. This study evaluated chronic health conditions in 980 childhood lymphoblastic leukaemia survivors of the SJLIFE cohort, compared to 272 matched co...

J Clin Invest. 2021 Sep 15;131(18):e144847. doi: 10.1172/JCI144847. PMID: 34237031Brief Summary: This retrospective analysis of clinical, pathologic, and genetic characteristics of n=106 children with differentiated thyroid carcinoma (DCT) showed that fusion oncogene associated papillary thyroid carcinoma (PTC) is more frequent in young children and is associated with larger tumors, extrathyroidal ...

eLife 2022;11:e71094 doi: 10.7554/eLife.71094Brief summary: Using placental perfusion, placental fragment culture and primary term human cytotrophoblast culture experiments, the authors signify the relationship between maternal vitamin D, placental vitamin D metabolism and fetal vitamin D exposure.In this study, the uptake of radio-labelled vitamin D (13C-25(OH)D...