ESPE Yearbook of Paediatric Endocrinology

J Pediatr Endocrinol Metab 2019; 32(3): 253–258. DOI: 10.1515/jpem-2018-0342• 44,360 neonates were screened for CAH as part of a pilot screening programme in Beijing.• In this prospective study, a CAH incidence of 1:7393 was found, and the most common 21 OHase mutation was c.293-13C/A>G.The authors describe the results of a ...

To read the full abstract: Elife. 2018 Jun 15;7. pii: e35960.Using transgenic mice, this team discover a new role for Pituitary adenylate cyclase activating polypeptide (PACAP) in female puberty and reproduction. This neuropeptide relays nutritional state information in the hypothalamus to regulate gonadotropin-releasing hormone release.Metabolic cues play...

To read the full abstract: Science 2018;359:424-428This ground-breaking study shows that your genetic make-up may influence your appearance, behaviour and health risks, not only by acting directly on your biology, but also indirectly, through the effects on your parents and how they cared and “nurtured” you. Such parental effects are obvious for very early life traits, su...

Program Collaborators for Environmental Influences on Child Health OutcomesJAMA Netw Open. 2022 Feb 1;5(2):e2146873. doi: 10.1001/jamanetworkopen.2021.46873. PMID: 35119461https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2788643/Brief Summary: This study describes the correlation between...

Brief Summary: This study suggests that excessive interferon-γ–mediated responses have a pathogenic role in APS-1 and provides the foundation for therapies that affect interferon-γ–mediated disease.Commentary: Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED), is an autosomal recessive multiorgan syndrome caused by loss-of-function variants in ...