ea0078p60 | Pituitary and Growth | BSPED2021
Pattani Nikhil
, Dastamani Antonia
, Gan Hoong-Wei
, Dattani Mehul
Background: Lowe Syndrome is an X-linked recessive genetic disorder caused by OCRL gene mutations, which impair intracellular trafficking processes. Signs are multisystemic, including congenital cataracts, intellectual disability and proximal renal tubulopathy. Short stature is a common association, often attributed to chronic kidney disease through childhood. However, recent evidence suggests that the hypothalamo-pituitary-somatotroph axis may play a role. <p class="abste...