ESPE Yearbook of Paediatric Endocrinology

Hum Genet. 2021 Nov;140(11):1553-1562. doi: 10.1007/s00439-021-02259-2.Brief Summary: This paper describes 5 related Karelian Bear Dogs (KBDs) with a canine hypopituitarism phenotype. Genome-wide association analysis (GWAS) and next-generation sequencing revealed a homozygous candidate gene defect in POU1F1. The study thus presents a novel animal model for human hypopituitarism.</...

Pediatrics. 2021 Jul;148(1):e2020019000. doi: 10.1542/peds.2020-019000.Brief Summary: This case report of an infant with dysgenesis of the corpus callosum, whose whole genome sequencing (WGS) revealed variants of unknown significance (VUS) in ROBO1, demonstrates the potential of VUS in guiding clinical decisions.Next-generation sequencing (NGS) is increasingly...

Am J Hum Genet. 2022;109(4):553-570. PMID: 35202564. doi: 10.1016/j.ajhg.2022.02.002.Brief Summary: The authors present elegant data showing that X-LAG is a TADopathy of the endocrine system and that the rewiring of GPR101 -enhancer interactions most likely causes the upregulation of GPR101 expression in X-LAG-related pituitary tumors.The X-LAG micr...

tamara.diesch@ukbb.ch.Hum Reprod. 2021; 36: 2871-82. PMID: 34529796.Brief Summary: This retrospective study of the European Society for Blood and Marrow Transplantation (EBMT) registry describes the natural or assisted conceptions and their outcomes in patients <18-year-old at their first transplantation who received hematopoietic stem cell transplantation (HSCT) between 1995 and 2016. <p class=...

J Clin Endocrinol Metab. 2019 Feb. doi: 10.1210/jc.2018-02288. [Epub ahead of print]Short stature is the most common reason for referral to pediatric endocrinologists. Familial short stature (FSS) is used to describe a child with a stature below the normal but within the parental target range and with at least one short parent.In the last years, there has been a widesp...

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: Lancet Child Adolesc Health. 2019 Jan;3(1):44–54.This article reviews cross-sectional, longitudinal and intervention studies regarding the bidirectional relationship between obesity and puberty.An increasing prevalence of obesity amongst children and adolescents is reported globally. Epidemiological cross-sectional and...

To read the full abstract: Proc Natl Acad Sci U S A. 2018; 115(28): E6576–E6584.It is accepted that aggressive behavior can be viewed as a strategy by humans and animals to cope with stress, implying that neurobiological mechanisms involved in stress responses should underlie both physiological and pathological aggression (15, 16). The hypothalamic–pituitary–adrenal ...

To read the full abstract: Endocrine. 2018 Jul; 61(1):76Hematopoietic stem cell transplantation (HSCT) is a curative treatment for life-threatening malignancies. However, late HSCT adverse effects cause substantial morbidity among long-term survivors. Metabolic complications, such as diabetes mellitus and hyperlipidemia, are the major late effects of pediatric HSCT, but the pathogenesis ...

To read the full abstract: J Clin Endocrinol Metab 2018;103:1583-1591The Controlled Antenatal Thyroid Screening (CATS) study started in 2002 and was the first randomized controlled trial to evaluate the effect of screening and treatment of mild hypothyroidism during pregnancy on child cognition1. A large number of women (n=21,846) were recruited at a median ...