Endocrine Abstracts

Background: Silver-Russell Syndrome (SRS) is a clinically and genetically heterogenous condition. 40% patients with ‘clinical’ SRS remain without a genetic diagnosis despite fulfilling the Netchine-Harbison Clinical Scoring System (NH-CSS) criteria. There is increasing recognition of the wide range of clinical phenotypes within the SRS spectrum and overlap with other short stature syndromes.Methods: We analysed 26 undiagnosed patients with feat...

Short stature (SS), defined as height ≤−2 SDS for a given population, comprises ~50% of new patient referrals to paediatric endocrine clinics. Since >80% SS children in the UK do not receive a clear diagnosis, enhanced genetic testing and stratification is a fundamental need. Whole-genome sequencing (WGS) was offered to rare disease patients recruited to the 100 000 Genomes Project (100KGP), leading to new clinical diagnoses in ~25% of participants. The 100KGP ...

Background: A diagnosis Silver–Russell Syndrome (SRS) is important for early institution of appropriate management, access to therapy and reduces the burden of diagnostic uncertainty. SRS is molecularly heterogeneous and 11p15 LOM/upd(7)mat account for ~60% cases. Monogenic causes include variants in HMGA2, CDKN1C, IGF-2, PLAG1 and contribute to 5% cases. Clinical SRS diagnosis requires the fulfilment of ≥4/6 Netchine–Harbison Clinical Scoring ...

Introduction: Our Centre receives international referrals for genetic analysis of children with short stature (SS) and features of GH/IGF-1 insensitivity. Copy number variation (CNV) hasn’t previously been investigated in GH/IGF-1 insensitivity. We hypothesised CNVs contribute to the phenotype in our undiagnosed cohort.Experimental design/methodology: CGH was performed with oligonucleotide array using ~60,000 probes in 60 patients (38 M, mean age 7....