Endocrine Abstracts

Human sulfation depends on provision of the universal sulfate donor PAPS by the two PAPS synthase isoforms PAPSS1 and PAPSS2. Mutations in PAPSS2 have been identified as a monogenic cause of androgen excess presenting with premature adrenarche and polycystic ovary syndrome, due to decreased sulfation of the androgen precursor DHEA by DHEA sulfotransferase (SULT2A1) and hence increased conversion of DHEA to active androgens (New Eng J Med 2009 360 (22)...

Mutations in the gene for 3′-phospho-adenosine-5′-phosphosulfate synthase 2 (PAPSS2) are linked to bone and cartilage mal-formation. More recently, we could identify PAPSS2-mutations as mono-genetic cause for androgen excess in women due to apparent SULT2A1 deficiency, the enzyme responsible for sulfation of the testosterone precursor DHEA that relies on PAPS provision by PAPS synthases. The only human orthologue, PAPSS1, is expressed in the affected tissu...