hrp0094p1-80 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021
Kwong Ruth
, Maharaj Avinaash
, Metherell Lou
, Prasad Rathi
,
Sphingosine 1-phosphate lyase insufficiency syndrome (SPLIS) was described in 2017 as a novel condition affecting sphingolipid metabolism, with bi-allelic loss of function mutations in SGPL1. There is a multisystemic phenotype including steroid resistant nephrotic syndrome and primary adrenal insufficiency (PAI) and to a lesser extent ichthyosis, neurological disease and lymphopenia. Hypogonadism is described amongst some affected patients. To interrogate the steroid ...