ESPE Abstracts

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) are associated with a syndromic form of primary adrenal insufficiency. A third of affected male individuals also have evidence of early primary gonadal insufficiency, with an undervirilised phenotype at birth. SGPL1 carries out irreversible breakdown of the signalling molecule sphingosine-1-phosphate (S1P) and deficiency leads to accumulation of S1P and other upstream sphingolipid intermediates to var...

Background: Studies of Primary Adrenal Insufficiency (PAI) from Africa are scanty while in Sudan, congenital adrenal hyperplasia (CAH) followed by Triple A syndrome are the commonest reported genetic etiologies in children. Diagnosis is challenging, especially in resource limited settings where presentation can mimic common childhood diseases and facilities for biochemical and genetic testing are restricted.Patients & Methods...