ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Hum Genet. 2018; 137(11–12): 955–960.Patients with Congenital adrenal hyperplasia (CAH) suffer from multiple comorbidities, including mental illness. Studies that investigated the prevalence of psychiatric disorders in patients with CAH showed that any psychiatric diagnosis were more common in CAH subjects compared with population controls. In p...

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: J Assist Reprod Genet. 2018 Jul; 35(7):1209.Galactosemia is an autosomal recessive genetic disorder of the galactose metabolism, caused by impaired activity of galactose-1-phosphate uridyltransferase (GALT). Complete deficiency or severely reduced activity of GALT affects approximately 1:30,000 to 1:50,000 persons. Girls and women with classic galactosemia have...

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, ...