Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty

The study examined androgen metabolism in 30 males with steroid sulfatase deficiency (STSD) compared to 38 healthy controls, revealing that STSD patients had mutations in the STS gene, resulting in increased serum and urinary DHEAS but decreased serum DHEA and testosterone. Despite these changes, total urinary androgen excretion was similar to controls, suggesting that increased 5α-reductase activity in STSD patients compensated for reduced androgen generation. A prepubertal surge in the serum DHEA to DHEAS ratio was observed in healthy controls but not in STSD patients, indicating a lack of physiologically up-regulated STS activity before puberty in STSD. The study concluded that STSD had a minor impact on androgen generation, leading to mild androgen deficiency, which was compensated by increased peripheral androgen activation, and suggested that routine endocrine follow-up might not be necessary for STSD patients as they generally progressed through puberty without significant issues.