ea0037gp.05.02 | Developmental and paediatric endocrinology | ECE2015
Mueller Jon W
, Idkowiak Jan
, Hardman Rebecca E
, House Philip J
, McNelis Joanne C
, Rose Ian T
, Dhir Vivek
, Rosta Edina
, Arlt Wiebke
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)...