ESPE Yearbook of Paediatric Endocrinology

Metabolism. 2020; 112: 154354.https://pubmed.ncbi.nlm.nih.gov/32916150/In order to better define treatment groups and improve treatment monitoring, the authors performed a retrospective metabotyping analysis using 24-h GC–MS urinary steroid metabolome measurements in young prepubertal children (n=109; age 7.0–1.6 years) with classical congenital adrenal hyperplasia (CAH) ...

To read the full abstract: Diabetes Care. 2020;43(2):405–410. doi: https://pubmed.ncbi.nlm.nih.gov/31727688/Here, Gawlik et al. describe the urinary steroid metabolomic profile associated with insulin resistance (IR) as assessed in a cohort of 87 non-syndromic obese children and adolescents.To explore the previously defined novel concept of a disease-spe...

Brief summary: This study investigates metabotyping using steroid profiles, obtained with GC–MS, as a method to monitor the treatment in children with classical congenital adrenal hyperplasia.The aim of treatment in classic congenital adrenal hyperplasia (CAH) is to provide adequate glucocorticoid substitution to prevent adrenal crises and to suppress the excess adrenal androgen production. However, in clinical practice this is often difficult, and ...

Prof Hochberg was an exceptional paediatrician, endocrinologist and paediatric endocrinologist. He had an inquisitive mind, interest in various and wide fields, love for music, operas, books and people. Even in the field of endocrinology, he always researched beyond the visible. His groundbreaking contributions to the field of paediatric endocrinology have left an indelible mark on the medical community.Comment: To distinguish among chil...

Brief Summary: This study examined the role of the melanocortin 3 receptor ( MC3R ) gene in regulating body weight, height, and puberty timing. It found an association between various non-synonymous variants (NSVs) in the MC3R gene with energy homeostasis and puberty.Melanocortin 3 receptor (MC3R) is a G protein-coupled receptor involved in the hypothalamic system that regulates energy homeostasis, growth and puberty (1,2). Recent studi...

Endocrine. 2022 Jun;76(3):722-732. PMID: 35258786, doi: 10.1007/s12020-022-03017-8.Brief Summary: In this multicentre, randomized, double-dummy, double-blind crossover trial the authors investigated differences in metabolic parameters between the individuals with complete androgen insensitivity syndrome (CAIS) receiving testosterone versus estradiol replacement therapy. This is the first s...

Lancet Diabetes Endocrinol. 2018 Oct;6(10):771–780.doi: 10.1016/S2213-8587(18)30197-9.For the first time a prospective randomized treatment study has been performed for individuals with a DSD. This national multi-center, double-blind, randomized, cross-over trial compared estrogen therapy to androgen replacement in complete androgen insensitivity syndrome ...

Eur J Endocrinol. 2020 Jun;182(6):P1–P15. doi: 10.1530/EJE-19-0831. PMID: 32268295.This paper describes the concerted efforts of the EU COST Action DSDNet and the European network for rare endocrine diseases Endo-ERN. A total of 33 laboratories were involved and they describe state of the art assessments of the peptide hormones: follicle-stimulating hormone (FSH), luteinizing hormone (LH)...

To read the full abstract: Eur J Endocrinol. 2020, Jun; 182: P1–p15; doi: https://eje.bioscientifica.com/downloadpdf/journals/eje/182/6/EJE-19-0831.pdfDiagnosis and monitoring of therapies for DSD patients require clinical, biochemical and genetic assessments. Biochemical analyses comprise the measurements of peptide and steroid hormones. This positi...