ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Clin Endocrinol (Oxf). 2019, Aug; 91: 237–44. doi: https://www.ncbi.nlm.nih.gov/pubmed/31004515Fertility issues in individuals with a DSD has attracted increasing attention over the past decade and are summarized in this and other reviews. The various genetic defects that cause DSD and their underlying mechanism may impair fertility in a variety of ways. I...

Reprod Sci. 2022 Jan;29(1):260-269. PMID: 33788173, doi: 10.1007/s43032-021-00561-y. Brief Summary: This study from Israel investigated semen samples from 26 transgender girls aged 14-18 years and notes a general reduction in semen quality parameters. Fertility counselling is mandatory in all transgender adolescents prior to considering hormone interventions, but in ...

Brief summary: This retrospective case-control observational study assessed body composition of children with non-classic congenital adrenal hyperplasia (NCCAH) using bioelectrical impedance analysis (BIA). It showed that children with NCCAH have an imbalance between muscle and fat tissues compared with control subjects, which may place them at increased risk for early-onset cardiometabolic morbidity.Non-classic congenital adrenal hyperplasia (NCCAH) is ...

Brief Summary: This retrospective chart review included 116 patients aged 0 to 17 y (M:F 94%:6%) with X-linked adrenoleukodystrophy (ALD) managed in one expert medical center from 2006 to 2022. It assessed the impact of newborn screening (which began in the U.S. in 2013 based on measurement of a lysophosphatidylcholine derivative of a very long chain fatty acid (VLCFA) C26:0-LPC, followed if abnormal by ABCD1 gene sequencing), on the age and presentation of adrenal in...

To read the full abstract: Horm Res Paediatr: 2018;89(6):413–422.This study examined the clinical and molecular aspects of girls with Turner syndrome and hyperinsulinaemic hypoglycemia (HH). Records of girls with hyperinsulinism and Turner syndrome were reviewed.The findings expand on previous observations suggesting a link between Turner syndrome and hyperins...

Brief Summary: This basic science study examined how 3,5,3’-triiodothyroacetic acid (TRIAC) - a thyroid hormone (TH) receptor agonist used in patients with resistance to TH, and in patients with Allan-Herndon-Dudley syndrome (AHDS), caused by mutations in monocarboxylate transporter 8 (MCT8) - is transported into cells independent of MCT8. Through a genome-wide RNAi screening in HepG2 cells, two key transporters, SLC22A9 (OAT7) and SLC29A2 (ENT2), were identified that fac...

To read the full abstract: JAMA. 2018;319:38-48Earlier observational studies showed that dietary exposure to complex proteins in newborns and early infants is associated with beta cell autoimmunity and increase the risk for T1DM. Several studies avoiding certain proteins, such as gluten and casein, have been conducted without reducing the risk for T1D in genetically susceptible children. Theref...