ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: PLoS Medicine vol. 16,12 e1002986. 2 Dec. 2019. doi: https://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1002986This large scale population-based cohort study identifies a slightly higher risk for adult fracture in men who had later puberty. The pubertal period plays a key role...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgaa016. PMID: 31927590.Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency requires life-long glucocorticoid (GC) replacement therapy. Previous studies on general cognitive ability in patients with CAH have been conflicting, and the majority focused on intelligence in adult patients. Some studies h...

To read the full abstract: Arch Med Sci. 2020;16(1):34–41. doi: 10.5114/aoms.2019.88406Short summary: Alarming numbers are reported here on the high prevalence of T2DM in children and adolescents in Hungary. In this nationwide population-based study, the prevalence of T2DM in children aged 0–18 years rose between 2001 and 2006 from 20/100 000 to 36/100 000 and decreased ...

To read the full abstract: J Pediatr Endocrinol Metab 2020; 33(2): 295–304. doi: 10.1515/jpem-2019-0345• Using the validated World Health Organization QOL-BREF questionnaire that independently assesses the physical, psychological, social and environmental domains, the authors assessed health-related QOL in 200 Egyptian children and adolescents with CAH.• Older patients had si...

To read the full abstract: J Clin Endocrinol Metab 2018 pii: jc.2018-00687.Prader-Willi syndrome (PWS) is a rare genetic disorder secondary to absent expression of the paternal active genes in the PWS critical region of chromosome 15. 70% of patients have a microdeletion, 28% a uniparental disomy (UPD) and 1% an imprinting defect. PWS has an estimated incidence rate of 1 in 25,000 live b...

Pediatrics. 2018 Sep;142(3). pii: e20173142.doi: 10.1542/peds.2017-3142. PMID:30072573While awaiting a breakthrough in research on in vitro maturation of immature gametes, the best option for transgender youth to secure fertility is to cryopreserve mature sperm, oocytes or gonadal tissue. This often requires postponement or arrest of transitional hormone medi...

To read the full abstract: J Adolesc Health. 2017 Jul;61(1):120-123Recent developments in assisted reproduction technologies (ART) have changed the scene for fertility wishes in a number of disorders, including GD. Fertility preservation is now routinely offered to postpubertal adolescent and adult GD patients at increasing numbers of medical centers. For biological boys, this is a non...

To read the full abstract: Clin Endocrinol (Oxf). 2017; 87(6): 651-659Patients with CAH are treated with lifelong glucocorticoid (GC) replacement therapy and, for the classic form of the disease, treatment with fludrocortisone is also necessary. During different periods throughout life, it may be difficult to achieve optimal dosing of GC replacement therapy, leading to over- or under-treatment and, t...

To read the full abstract: Nature 2017;547:419Since the identification of DNA methylation as a master regulator of genomic imprinting more than 20 years ago, it has been the only known mammalian germline imprinting mark. However, recent studies have identified several imprinted genes capable of maintaining paternal allele-specific expression in the absence of oocyte DNA methylation. Here, t...

NPJ Genom Med. 2021 Dec 20;6(1):107. doi: 10.1038/s41525-021-00274-w. PMID: 34930920https://www.nature.com/articles/s41525-021-00274-wBrief Summary: This cross-sectional study describes the genetic data of a cohort of patients with self-limited delayed puberty, finding a high prevalence of CCDC141 gene mutations. Usi...