PMC7218118_01
Within the cell, dehydroepiandrosterone sulfate (DHEAS) can be desulfated by steroid sulfatase (STS) and even de novo sulfo-conjugated by sulfotransferase (SULT)2A1. DHEAS is shuttled through the cell membrane by various uptake and efflux transporters, such as sodium-coupled cotransporters Na+/taurocholate co-transporting polypeptide (NTCP), sodium-dependent organic anion transporter (SOAT), and breast cancer-resistance protein (BCRP).
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F1
STS gene, which is responsible for the hydrolysis of aryl and alkyl steroid sulfates and catalyzes the conversion of DHEAS to DHEA (Figure 1). Sequence analysis revealed a heterozygous single-base substitution (g.117217G>T) that results in a nonsense mutation at codon 173 (p.G173X). Therefore, a defect of one or more transporter proteins was suggested (Figure 1).