Steroid sulphatase deficiency disease.

Area of Science:

• Biochemistry
• Genetics
• Dermatology

Background:

• Steroid sulphatase deficiency (STS) is a genetic disorder.
• X-linked ichthyosis is a primary manifestation of STS.
• STS affects males and is inherited in an X-linked recessive pattern.

Purpose of the Study:

• To report on a cohort of male patients with biochemically confirmed STS.
• To investigate the phenotypic characteristics associated with STS.
• To explore potential comorbidities linked to STS.

Main Methods:

• Biochemical confirmation of steroid sulphatase deficiency.
• Clinical assessment of ichthyotic phenotype.
• Review of patient histories for associated abnormalities.

Main Results:

• Seventy-six male patients with confirmed STS were identified.
• The ichthyotic phenotype matched the classic description of recessive X-linked ichthyosis, with early infancy skin peeling as a key feature.
• A significant proportion of patients exhibited gonadal abnormalities (9 with maldescent, 2 with testis cancer) and corneal opacities (14/28).

Conclusions:

• Recessive X-linked ichthyosis is a consistent phenotype of steroid sulphatase deficiency.
• A strong association exists between STS and gonadal abnormalities in affected males.
• Corneal opacities are a notable, though non-sight-impairing, finding in males with STS.