ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Diabetes Res Clin Pract 2019; 150: 274–281. doi: 10.1016/j.diabres.2018.12.014• An online survey was sent to physicians registered with the Arab Society for Paediatric Endocrinology and Diabetes (ASPED) to assess the attitudes of health professionals in the management of Type 1 diabetes during Ramadan.• There were 167 responders (86% were ped...

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) ...

PLoS ONE 2020; 15: e0241845. doi: 10.1371/journal.pone.0241845– To determine the etiology, presentation, and available management strategies for primary adrenal insufficiency in South Africa– A 23-question survey was sent to 23,321 physicians. It covered several domains including patient demographics, etiology, presentation, therapy, and barriers to diagnosis and treatment,&...

shenali.amaratunga@fnmotol.cz Horm Res Paediatr 2022; 95:1–11. doi: 10.1159/000521210Brief Summary: This review highlights the value of consanguinity in the discovery of novel genes for three endocrine conditions with increasing pathophysiological complexity: congenital hyperinsulinism, monogenic diabetes and short stature.<p class="abstex...

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...

To read the full abstract: J Biol Chem. 2018; 293(6): 1865-1874MicroRNAs (miRNAs) are short RNA species, generally 19–22 nucleotides in length, which mediate post-transcriptional down-regulation of protein expression (28). Given that miRNAs exert such pervasive effects on biological processes, it is not surprising that they have an effect on GC action at several points. Their touch...

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 ...

Brief summary: This retrospective study describes patients diagnosed with delayed puberty in a single tertiary care center in Sudan. The frequencies of various etiologies of delayed puberty are described.Delayed puberty is a common cause for referral to endocrinology clinics, usually due to concerns about height or future fertility. This retrospective study summarises the characteristics of patients with delayed puberty seen in the endocrinology unit at ...

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...

J Clin Invest. 2020 Aug 3;130(8):4501–4515. doi: 10.1172/JCI136745. PMID: 32453714.This study used mouse models to investigate the role of LIM homeodomain transcription factor Isl1 in pituitary development. It reveals that Isl1 has multiple, critical roles in pituitary gland development. Pituitary-specific Isl1 deletion caused hypopituitarism with increased stem c...