ESPE Yearbook of Paediatric Endocrinology

In Brief: The authors conducted genome sequencing on 151 mother–father–offspring trios from 68 vertebrate animal species in order to estimate and compare germline mutation rates (GMRs). They found a 40-fold variation in GMR per generation between the species. Higher GMRs were observed in species that have a longer generation time, older age at puberty and fewer offspring per generation.Comment: Mutations in germline DNA during gametogenesis are...

Brief Summary: This study demonstrates that FADS2 is a major regulator of steroidogenesis in the adrenal gland due to its key role in shaping the lipidomic landscape of adrenocortical cells.Comment: The corticosteroids aldosterone and cortisol are produced in the zona glomerulosa and zona fasciculata of the adrenal cortex, respectively (1, 2). Excess production of aldosterone in primary hyperaldosteronism results in resistant hypertension and cardiovascu...

Brief Summary: This retrospective cohort study analysed risk ratios for preterm birth (<37 completed weeks), very preterm birth (<34 completed weeks), low birth weight (<2500 g), and small for gestational age (SGA, <10th percentile of weight for gestational age) in a large group of women diagnosed with adolescent and young adult (AYA, age 15-39 years) breast cancer, thyroid cancer, gynaecologic cancers, lymphoma, or melanoma.1648 post-can...

Brief Summary: This cross-sectional study in n=19 first-degree relatives of type 2 diabetes mellitus (T2DM) patients and n=19 control individuals without obesity found that while the intrinsic adipogenic potential of subcutaneous adipose tissue (SAT) is unaffected by a family history of T2DM, alterations in lysyl oxidase (LOX) mRNA expression and polyunsaturated fatty acids in triglycerides are linked to increased T2DM risk, independent of obesity. These findings suggest that ...

Brief Summary: The authors propose a simplified definition of pediatric metabolic syndrome (MetS) for children aged 6-17 years. This uses static cut-offs, enabling easier and quicker assessment in clinical practice, and allowing comparison of MetS prevalence across different pediatric populations.Comment: There is no consensus on the definition of pediatric metabolic syndrome (MetS). Existing pediatric MetS definitions involve age-, sex- or height-specif...

Homozygous familial hypercholesterolemia (HoFH) is a severe disorder caused by genetic mutations in LDLR (encoding the LDL receptor), APOB or PCSK9. LDL-C levels in HoFH are extremely elevated)>400 mg/dL(even in utero, leading to cardiovascular events, and disability or death during childhood and adolescence. Conventional medications have minimal efficacy, since LDL-C levels cannot be reduced through upregulation of hepatic LDL receptors.<p c...

To read the full abstract: Proc Natl Acad Sci U S A. 2020; 117(4): 2187–2193. PMID: 31932420.Since their discovery ~70 years ago, glucocorticoids (GC) have been widely used to elicit a systemic anti-inflammatory response, and currently play a major role in the treatment of asthma and other inflammatory diseases (1). However, unresponsiveness to GC in some individuals i...

Brief summary: Genomic information (nuclear, Y-chromosome and mitochondrial DNA data) of 13 Neanderthals from two neighboring caves in Siberia have been analysed to infer their social community organization. The data show greater diversity of maternal lineages, which is best explained by female-biased migration between communities.This study is fascinating as it illustrates what information can be gained with genetic data and analysis beyond the medical ...

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

J Clin Invest. 2020 Dec 1;130(12):6338–6353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...