ESPE Yearbook of Paediatric Endocrinology

Int J Mol Sci. 2020 Sep 10;21(18). pii: E6614. doi: 10.3390/ijms21186614. PMID: 32927658This review first summarises current molecular knowledge of gonadal development and related DSDs, and then overviews methods of single-cell sequencing (sc-seq) technologies and their applications and findings for healthy gonads and disease states. Recent studies are listed in two tables and major findings ...

Cochrane Database Syst Rev, 2021. 10: p. CD004447 PMID: 34618915Brief Summary: This systematic review examined the effects of rhGH treatment in children with X-linked hypophosphatemia. Despite a significant improvement in height SDS from baseline, evidence from the 2 identified studies was limited to support its clinical use in these patients.X-linked hypophosphatemia (XLH) is an inherited disorder of phosphate homeostasis...

Horm Behav. 2020;126:104849. 10.1016/j.yhbeh.2020.104849. https://www.sciencedirect.com/science/article/abs/pii/S0018506X20301756?via%3DihubIn brief: This study used functional MRI to compare resting state functional connectivity in women who started oral contraception during puberty or ad...

Brief summary: This study analyzed cross-sectional data on almost 5,000 adolescents from the Adolescent Brain Cognitive Development (ABCD) cohort data (https://abcdstudy.org/), including resting state functional MRI, structural MRI and neurocognitive task scores. Excess BMI in young adolescents was associated with profound aberrant topological alterations in maturating functional circuits, as well as with underdeveloped brain structures that may adversely impact cogni...

Lancet Diabetes Endocrinol 2019 Published Online March 13, 2019. DOI: 10.1016/S2213-8587(19)30083-X• Practical challenges associated with diabetes care in humanitarian contexts in low- and middle- income countries abound.• In this position paper, the authors articulate the important needs around diabetes care in the context of the 6 building blocks ...

To read the full abstract: Diabetes Care 2018;41:1089-1096These findings show that a 1-SD increase in childhood BMI was associated with a 47–83% increased relative risk of T2DM and a 28% increased relative risk of CAD in adult life, yet childhood BMI was not associated with adult chronic kidney disease. This is the first study to examine the causal relationship between childhood BMI and cardio-...

To read the full abstract: JAMA Pediatr 2018;172:1153–1160.This paper describes a gene-environment interaction twin study in 925 UK families (1850 twins). The heritability of childhood BMI was calculated by comparing the concordance in BMI at mean age 4.1 years between monozygous and dizygous twins; heritability was much higher among more obesogenic households (h2=8...

To read the full abstract: BMJ 2018;360:k452The role of thyroid hormones during early gestation is well established by animal studies. In humans, previous studies have shown that maternal hypothyroxinemia was associated with either an early reduction in psychomotor scales (e.g. Bayley scale of infant development) or later in late infancy or adolescence. However, randomized controlled trials on...

To read the full abstract: Radiology 2018:171170Current American Thyroid Association (ATA) guidelines recommend the application of adult ultrasound criteria to classify thyroid nodules in children and adolescents1. However, few studies have evaluated the sonographic and demographic features that could predict malignancy in a large cohort of young patients with thyroid nodules.</p...

To read the full abstract: Diabetes 2017;66:1713-1722This study examined whether genetic variants predisposing to T2DM exert their influence on disease via changes in DNA methylation in a young, non-diabetic, cross-sectional cohort. The examination of young subjects who are disease-free enables exploration of SNP-methylation relationships without assessing methylation differences that result from rev...