Endocrine Abstracts

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, the underlying mechanism underlying growth retardation has, thus far, not been elucidated....

Case History: A 5-year-old South Asian female patient was born at term with very low birth weight (-3.8 SDS). She exhibited short stature (height -3.9 SDS), feeding difficulties (BMI -3.0 SDS) and microcephaly (HC -4.9 SDS). Maternal height was reduced (-3.5 SDS), paternal height was normal (-0.2 SDS). The girl had characteristic syndromic features including triangular face, high-pitched voice, and high-arched palate. She displayed developmental delay manifesting as inattentio...

Background: Silver-Russell syndrome (SRS) is a unique disorder characterised by characteristic features and growth restriction due to 11p15 LOM or upd(7)Mat in ~60% cases. Monogenic defects are a rare cause of SRS and HMGA2 mutations have been identified in 4 cases to date. The function of HMGA2 is poorly understood.Objectives: Assess the clinical phenotypes of 6 new patients with novel heterozygous HMGA2 defects and evaluate t...

Background: Silver Russell syndrome (SRS) is genetically heterogenous and around 30% of patients with clinical SRS have no genetic diagnosis. Point mutations in HMGA2 have been reported in 4 patients worldwide causing growth failure and an SRS-like phenotype. Despite strong evidence of the crucial role of HMGA2 in growth across species, the mechanism of action of HMGA2 in human linear growth is unclear.Objective: Identify and f...