ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Horm Res Paediatr. 2018;90:407–413.Temple syndrome (TS) is a rare imprinting disorder caused by the dysregulation of imprinted genes in the chromosomal region 14q32 [1]. Most cases (approximately 70–80%) are caused by maternal uniparental disomy of chromosome 14. Paternal deletions and primary imprinting defects involving chromosomal region 14q32 can ...

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...

J Clin Endocrinol Metab. 2019 Feb. doi: 10.1210/jc.2018-02288. [Epub ahead of print]Short stature is the most common reason for referral to pediatric endocrinologists. Familial short stature (FSS) is used to describe a child with a stature below the normal but within the parental target range and with at least one short parent.In the last years, there has been a widesp...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 3157–3171.The IGF receptor gene IGF1R is located at 15q26.3 locus and encodes for a tyrosine kinase receptor which mediates the IGF-I biological actions. The key role of IGF-IR in growth and development was proved in IGF1R null mice that had severely impaired prenatal growth and invariably died at birth ...