Which is true regarding Savage syndrome?
**Core Concept**
Savage syndrome is a rare genetic disorder characterized by impaired response to gonadotrophic hormones due to defective receptors in the target tissues, primarily in the ovaries and testes. It results in primary amenorrhea, infertility, and absent or underdeveloped secondary sexual characteristics due to failure of follicular development and ovulation.
**Why the Correct Answer is Right**
Savage syndrome is caused by a mutation in the gene encoding the gonadotropin receptor, leading to a defect in the receptor’s ability to bind follicle-stimulating hormone (FSH) and luteinizing hormone (LH). This results in a failure of ovarian follicular development despite normal or elevated levels of FSH and LH. The defect is at the receptor level, not in hormone production, making option A the only accurate statement.
**Why Each Wrong Option is Incorrect**
Option B: Sho stature – This is not a feature of Savage syndrome; growth is typically normal, though puberty is delayed.
Option C: Ovaries do not contain follicles – False; follicles are present but fail to mature due to receptor defects, not absence.
Option D: FSH is normal – While FSH levels may be normal or elevated, the key issue is receptor dysfunction, not FSH level; this option misrepresents the pathophysiology.
**Clinical Pearl / High-Yield Fact**
In Savage syndrome, patients have normal or elevated FSH and LH levels but fail to respond to them due to receptor defects—this is a classic example of a **receptor defect** rather than a hormone deficiency. Remember: **no follicular development despite normal gonadotropins**.
✓ Correct Answer: A. Receptor defect to gonadotrophic hormones