ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This longitudinal study provides an in-depth analysis of the clinical, endocrine, and testicular ultrasound (US) patterns in Klinefelter Syndrome (KS) from infancy through puberty and into adulthood, highlighting the progression of testicular degeneration in these patients.In this study, 155 KS patients with the classical 47,XXY karyotype, aged 7 months to 55 years, were prospectively evaluated at a single referral center following a stand...

Science. 2020 Oct 23;370(6515):463-467. doi: 10.1126/science.aba4767. PMID: 33093109These researchers used lineage tracing, combined time-lapse imaging with single cell RNA sequencing in zebrafish, and identified that endoderm actually also contributes to the formation of adenohypophysis primordium and resultant pituitary.The pituitary gland is considered to be forme...

Clin Endocrinol (Oxf). 2021 Feb;94(2):269–276. doi: 10.1111/cen.14353. PMID: 33098093.Every clinician encounters sometimes tricky incidentalomas, i.e., non-symptom-related imaging findings that are a consequence of increased availability and resolution of radiologic imaging.This study evaluated pediatric pituitary incidentalomas (PIs). Pituitary microadenomas...

J Clin Endocrinol Metab. 2020;105:dgaa415. doi: 10.1210/clinem/dgaa415.The optimal cut-off for neonatal screening has long been a matter of debate. The optimal balance between optimal detection of cases and increase of false positive patients is difficult to define. Also, in the most recent guidelines for congenital hypothyroidism (see previous paper in this chapter 3.7), no precise cut-off...

Clinical Endocrinology. 2020;93:305–311. doi: 10.1111/cen.14264. PMID: 32521075This study analyzed retrospectively GH content in newborn screening cards of 20 children with clinical features suggestive of GH deficiency (such as recurrent hypoglycemia) compared to screening cards from 281 healthy newborns, and determined 7 ng/ml to be the optimal a cut off value for the diagnosis of GH defic...

Pediatrics. 2021 Mar 22:e2020023549. doi: 10.1542/peds.2020-023549. PMID: 33753543.This retrospective, single center chart review study assessed the incidence of arterial or venous thrombosis during gender affirming hormone therapy (GAHT) in 611 transgender adolescents. The prevalence of thrombosis risk factors was also investigated. No increased risk of thrombosis was found over a short ...

Hum Reprod. 2021 Jun 18;36(7):1959–1969. 10.1093/humrep/deab039 https://academic.oup.com/humrep/article-abstract/36/7/1959/6179308?redirectedFrom=fulltextIn brief: This large prospective population-based pregnancy cohort study identifies an association between maternal stressful li...

Pediatr Diabetes. 2020;21(8):1447–1456. doi: 10.1111/pedi.13122Family histories suggest strong degrees of inheritance of T1D in some children, especially in populations with an overall high risk of autoimmunity.This paper from the Finnish T1D Prediction and Prevention (DIPP) study looked at subjects carrying high HLA-conferred risk for T1D. A family history of T1D in...

Sudan J Paediatr 2021;21:53–60. doi: 10.24911/SJP.106-1588448825– This paper describes the characteristics of 156 children and adolescents with hypopituitarism from 2 hospitals in Sudan– Congenital causes (86.5%) were more prevalent than acquired causes (13.5%)– Consanguinity was found in 77.8% of patients overall and 91% of patients with congenital aetiologies. The...

JAMA. 2020;324(8):801–804.https://jamanetwork.com/journals/jama/fullarticle/2768716The authors analysed data from the German Diabetes Prospective Follow-up Registry (DPV) of children and adolescents with Type 1 diabetes (T1D) between March 13 to May 13, 2020, when most kindergartens and schools in Germany were closed due to COVID-19 restrictions. Compared to the previou...