Oral Communications 1

ea0085oc1.1 | Oral Communications 1 | BSPED2022

Defects in QSOX2, a novel regulator of STAT5B nuclear import and transcriptional activity, lead to severe post-natal growth restriction

Maharaj Avinaash , Andrews Afiya , Chatterjee Sumana , Hwa Vivian , Storr Helen

Background: Growth Hormone Insensitivity (GHI) is characterised by short stature and functional IGF-I deficiency associated with normal/elevated GH levels. Marked genetic and phenotypic heterogeneity exist, and heritable defects in GH-IGF-I axis associated pathways account for mild-moderate to severe GHI. We report non-consanguineous twin brothers who present with short stature and bi-allelic mutations in QSOX2 encoding a nuclear membrane protein. Genome-wide associat...

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ea0085oc1.2 | Oral Communications 1 | BSPED2022

A rare case of short stature with high total insulin like growth factor 1 (IGF-1) and a novel pregnancy-associated plasma protein A2 (PAPPA2) gene mutation

Chatterjee Sumana , Maharaj Avinaash , Storr Helen , Giri Dinesh

Background: PAPP-A2 is a protease which helps to release IGF-1 from a ternary complex by cleaving the IGF binding proteins (IGFBP-3 and -5). Free IGF-1 subsequently binds to its receptor resulting in cell proliferation and growth. Homozygous loss-of-function PAPPA2 mutations lead to low IGF-1 bioavailability and postnatal short stature (SS). Recombinant human IGF-1 (rhIGF-1) treatment improves height SDS in few patients. We report a patient with SS and high plasma tot...

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Endocrine Abstracts

49th Annual Meeting of the British Society for Paediatric Endocrinology and Diabetes

Oral Communications

Defects in QSOX2, a novel regulator of STAT5B nuclear import and transcriptional activity, lead to severe post-natal growth restriction

A rare case of short stature with high total insulin like growth factor 1 (IGF-1) and a novel pregnancy-associated plasma protein A2 (PAPPA2) gene mutation

BiosciAbstracts