ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(12): 6148–6154. PMID: 31393570.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency has an incidence of 1 in 10 000 to 20 000 in most populations. It is one of the most common monogenic autosomal recessive disorders (1). It has been suggested that the condition is common because it may confe...

To read the full abstract: PLoS One. 2019;14(12):e0226262. geraldine.delbes@iaf.inrs.caMale childhood cancer survivors (CCS) show reduced fertility, mostly due to low sperm count. The links between DNA damage caused by cancer and its treatment, pubertal stage at diagnosis and future infertility are still unclear. This Canadian pilot study analysed reproductive parameters and sperm characteristics...

Abstract: Dis Model Mech. 2018 Oct 1; 11(10): dmm035691.In brief: Generalized arterial calcification of infancy (GACI) is a severe, rare disease characterized by excessive calcification of large and medium sized arteries caused by homozygous loss-of-function mutations in ENPP1. Here, in Enpp1 deficient mice, treatment with recombinant hu...

Arch Sex Behav. 2018 Nov;47(8):2307–2317.doi: 10.1007/s10508-018-1218-3. PubMed ID: 29736809An increased incidence of autism spectrum disorder (ASD) among adolescents and adults with gender dysphoria has been reported in many studies. This paper describes one of the rare studies taking an opposite approach, by investigating the self-reported wish to be of the ...

To read the full abstract: Sci Rep. 2019 Apr 30; 9(1): 6691.In recent years, improved knowledge of the metabolic risks in childhood cancer survivors (CCS) has increasingly focused research on modifiable factors and preventive strategies (1–2). It is well known that therapeutic irradiation can cause detrimental changes in body composition, but it is still unknown whether the specific...

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: Hum Mol Genet 2017;26:1992-2005Mutations in human DISC1 have been previously associated with mental illness, such as schizophrenia and depression. Moreover, DISC1 has been shown to be important in regulating CNS neurogenesis through the Wnt/β-catenin pathway. However the mechanism by which DISC1 causes mental illness is not known. In this elegant work, Eachus <...

To read the full abstract: Development 2018;145. pii:dev146829Branching morphogenesis is a key process during organogenesis of ductal and exocrine organs, e.g. lung, kidney, pancreas, and liver1. Regulatory components and local interactions for lung branching morphogenesis have been described in detail, mostly relying on receptor-ligand interactions between embryonic ...

To read the full abstract: J Pediatr 2018; 198: 260-264The incidence of T1DM in children <15 years is increasing at an overall annual relative rate of 3.9% (95% CI 3.6-4.2) [11]. The prevalence of GHD is estimated at approximately 1:4000 to 1:10000 [12-14]. Management of the very rare patients who have both T1DM and GHD raises questions of efficacy and safety of ...

To read the full abstract: J Psychosom Res. 2017 Oct;101:122-127The results of this study clearly show individuals with a DSD condition have psychological difficulties, and not only in countries with a less well developed health care systems, as reported by Khorashad et al. 2018. The findings indicate that having a DSD may impose a type of stress and vulnerability that is more common t...