Endocrine Abstracts

Introduction: Sphingosine-1-phosphate lyase (SGPL1) catalyses the final step in sphingolipid metabolism, irreversibly degrading the lipid signalling molecule sphingosine-1-phosphate (S1P). The relative abundance of S1P compared to its precursors sphingosine and ceramide finely tunes signal transduction for a wide range of cellular pathways including proliferation, apoptosis, migration and calcium handling. Loss-of-function mutations in SGPL1 cause a spectrum of disorders, incl...

Sphingosine-1-phosphate lyase 1 insufficiency syndrome (SPLIS) is a multisystemic syndrome in which primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome predominate, secondary to loss-of-function mutations in SGPL1 (sphingosine-1-phosphate lyase). SGPL1 carries out the irreversible breakdown of sphingosine-1-phosphate, a bioactive sphingolipid intermediate, with implicated roles in various cellular processes. Wider endocrinopathy including gonadal insuf...

Introduction: Non-classical congenital adrenal hyperplasia (NCCAH) is a common autosomal recessive disorder characterized by androgen excess. It classically presents in later life with symptoms of acne, hirsutism, and premature adrenarche. This case illustrates a rare case presentation of NCCAH in early infancy.Clinical case: An 18 day old term male infant was brought to the A&E for 9% weight loss. On review he was mottled, but otherwise examination ...

Introduction: PTEN-harmatoma-tumor syndrome is an umbrella term that describes a group of genetic disorders linked to germline mutations of PTEN (Phosphatase and tensin homolog), a tumor suppressor gene that inhibits the PI3/Akt signalling pathway thereby inhibiting proliferation, cell survival and angiogenesis. PTEN-harmatoma-tumor syndrome encompasses Cowden‘s Syndrome, Bannayan–Riley–Ruvalcaba syndrome, and autism spectrum disorder (ASD) associated with macro...

An underlying genetic/endocrine cause for severe hypospadias is found in up to 20% of affected boys as described in the literature, with environmental and epigenetic factors also believed to play a role. We conducted a retrospective analysis of 65 boys with severe hypospadias (penoscrotal, scrotal, perineal) managed by Paediatric Urology at Barts Health NHS Trust, born between January 2010 and 2021 (38% white caucasian, 28% asian, 22% black and 12% other/undefined). Boys with ...

Introduction: Sphingosine-1-phosphate lyase (SGPL1) catalyses the final step in sphingolipid metabolism, irreversibly degrading the lipid signalling molecule sphingosine-1-phosphate (S1P). The relative abundance of S1P compared to its precursors sphingosine and ceramide finely tunes signal transduction for a wide range of cellular pathways including proliferation, apoptosis, migration and calcium handling. Loss-of-function mutations in SGPL1 cause a spectrum of disorders, incl...