ea0095p70 | Pituitary and Growth 1 | BSPED2023
Ishida Miho
, Vestito Letizia
, Maharaj Avinaash
, Cipriani Valentina
, Smedley Damian
, Storr Helen
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 ...