Steroid suphatase deficiency is seen in –
**Core Concept**
Steroid sulfatase deficiency is a genetic disorder caused by a deficiency of the enzyme steroid sulfatase, which is crucial for the hydrolysis of sulfated steroids like cholesterol sulfate. This enzyme plays a vital role in the metabolism of cholesterol and other steroids.
**Why the Correct Answer is Right**
Steroid sulfatase deficiency leads to the accumulation of cholesterol sulfate in the body, resulting in a condition known as X-linked ichthyosis (XLH). This condition is characterized by dry, scaly skin and is often diagnosed in newborn males due to the presence of excess cholesterol sulfate in their blood. The deficiency of steroid sulfatase enzyme is responsible for this accumulation.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is not relevant to the condition caused by steroid sulfatase deficiency.
**Option B:** This option is incorrect because it is related to another enzyme, not steroid sulfatase.
**Option C:** This option is incorrect because it is related to another genetic disorder, not steroid sulfatase deficiency.
**Clinical Pearl / High-Yield Fact**
Steroid sulfatase deficiency is an X-linked recessive disorder, which means it primarily affects males since they have only one X chromosome. Females are usually carriers and may exhibit mild symptoms.
**Correct Answer: A. X-linked ichthyosis (XLH)**