Endocrine Abstracts

Imprinted genes differ from most gene pairs in that only one gene of the pair is expressed determined by the parent they originate from. Many have been shown to play an important role in fetal growth and neurodevelopment. Most imprinted genes are found in clusters and expression is controlled by imprinting centres that contain differentially methylated regions. Monoallelic expression makes imprinted genes particularly vulnerable to naturally occurring genetic rearrangements an...

Silver-Russell syndrome (SRS) is characterised by low birth weight, short stature, and feeding difficulties in childhood, with marked leanness also described. There is limited information on body composition in older people with SRS.Objective: To evaluate body composition in adults with SRS. Methods: Participants aged ≥18 years with molecularly-confirmed SRS attended a single study appointment. Body composition was evaluated ...

Introduction: Transient neonatal diabetes 1 (TNDM1) has an estimated incidence of 1 in 400 000 and is characterised by intra-uterine growth retardation and diabetes presenting soon after birth. Spontaneous remission of diabetes usually occurs within the first year of life. TNDM1 is caused by overexpression of imprinted genes at chromosome 6q24. Three causes have been described: paternal uniparental disomy for chromosome 6; paternally inherited duplication of 6q24; and maternal...

Childhood short stature in Silver-Russell syndrome (SRS) is frequently treated with growth hormone (GH), however final height and long-term body mass index (BMI) data are limited.Objective: To assess height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and Ger...