<h4>Introduction</h4>Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is a multisystemic disorder which, in the main, incorporates steroid-resistant nephrotic syndrome and primary adrenal insufficiency (PAI).<h4>Case presentation</h4>We present a young girl with a novel homozygous variant in <i>SGPL1</i>, p.D350G, with PAI in the absence of nephrotic syndrome. The gene discussed is SGPL1; the disease is primary adrenal insufficiency.