ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Mol Genet Genomic Med., 2019 Oct;7(10):e00753. doi: 10.1002/mgg3.753. Epub 2019 Aug 23. PMID: 31441606The unique population in the State of Qatar comprises over 2.6 million people who derived primarily from the Middle East and North Africa (MENA) and South Asia regions. Around 15% are indigenous Qataris of Arabian Peninsula ancestries, who have also immigrated to the St...

To read the full abstract: J Clin Endocrinol Metab. 2019;104:5765–5779.It is not clear whether retesting is needed for a healthy cotwin of a twin pair discordant for congenital hypothyroidism (CH) at the first neonatal screening. Medda et al. retrospectively analyzed a cohort of 47 twin pairs discordant for CH at the first neonatal screening. On follow-up, 7 (15%) of cotwins who were initially negatively screened then tested positi...

To read the full abstract: Science Advances 2019;5:eaaw7908This paper shows that the craniofacial and cognitive/behavioral phenotypes caused by alterations at the critical gene region for the Williams-Beuren syndrome is caused by changes in the chromatin remodeler BAZ1B in neural crest, and can serve as an entry point into the evolution of the modern human face and pro-sociality.Williams-Beuren syndrome is caused ...

To read the full abstract: Science 2019;365:eaat7693.These authors performed a genome-wide association study on 493 001 participants of European-ancestry from the USA, UK, and Sweden to identify genes associated with sexual orientation. They found multiple loci implicated in same-sex sexual behavior indicating that, like other behavioral traits, non-heterosexual behavior is polygenic.As many as 4% to 10% of US individuals ...

Abstract: Nature. 2018 Oct;562(7725):133–139.In brief: A newly discovered periosteal stem cell pool with features distinct from other skeletal mesenchymal stem cells (MSCs) is present in murine and human bone and reveals a pivotal function in intramembranous ossification, cortical bone architecture and fracture healing in conditional knockout mouse strains.</st...

J Clin Endocrinol Metab. 2018 Dec 1;103(12):4617–4627.doi: 10.1210/jc.2018-00052. PMID: 30124873This study shows for the first time that epigenetic changes in the androgen receptor gene (AR) proximal promoter region may underlie a clinical phenotype of Androgen Insensitivity Syndrome (AIS) in individuals in whom no DNA sequence mutation in AR or ...

N Engl J Med. 2018 Sep 13;379(11):1042–1049.doi: 10.1056/NEJMoa1800024. PMID: 30207912This case report describes two sisters with 46,XX karyotype and hypergonadotropic hypogonadism – i.e. ovarian dysgenesis. They had normal general development and normal cognition. With estrogen replacement they developed normal sex characteristics and reached their target he...

To read the full abstract: Lancet Child Adolesc Health. 2019 Feb;3(2):109–120This randomised, controlled, open-label trial at four paediatric centres in Finland evaluates aromatase inhibition with letrozole to induce puberty in boys with constitutional delay of growth and puberty.Treatment of delayed puberty aims to promote pubertal development ...

To read the full abstract: Sci Rep 2017; 22(7):12225The GH/IGF1 axis has historically been considered the most relevant regulator of growth. However, defects in the GH/IGF1 axis can be identified only in a minority of children with short stature. Human growth is dependent on chondrocyte proliferation and hypertrophy as well as structure and function of extracellular matrix in the gro...

To read the full abstract: JAMA Pediatr 2018;172(7):646-654Vitamin D deficiency in infants can lead to impaired bone mineralization and rickets. Since the 1920s, vitamin D has been used to prevent and treat rickets, but the optimal supplementation dose for bone health was unclear. Similarly, potential extra-skeletal benefits of vitamin D in childhood have been inadequately explored. Ac...