**Core Concept**
Marfan syndrome is a genetic disorder characterized by the disruption of fibrillin-1 (FBN1) production, leading to the accumulation of abnormal fibrillin in the extracellular matrix. This results in the characteristic features of Marfan syndrome, including tall stature, long limbs, and ectopia lentis.
**Why the Correct Answer is Right**
The tall stature associated with Marfan syndrome is due to the overproduction of growth hormone, which is unopposed by the normal production of growth hormone-inhibiting hormones. This is a result of the impaired function of the growth hormone-inhibiting hormone, somatostatin, which is produced by the hypothalamus. The impaired function of somatostatin leads to an increase in growth hormone levels, resulting in excessive growth and tall stature. The characteristic long limbs and joint hypermobility seen in Marfan syndrome are also due to the disruption of fibrillin-1, which is essential for the structural integrity of elastic fibers in connective tissue.
**Why Each Wrong Option is Incorrect**
**Option A:** Turner syndrome is characterized by short stature, not tall stature, due to the absence of one X chromosome. It is also associated with ovarian dysgenesis and other physical features such as webbed neck and low-set ears.
**Option B:** Klinefelter syndrome is characterized by tall stature, but it is also associated with hypogonadism, infertility, and other physical features such as gynecomastia.
**Option C:** Kallmann syndrome is characterized by delayed puberty and anosmia, and is not typically associated with tall stature.
**Clinical Pearl / High-Yield Fact**
Marfan syndrome is a classic example of a disorder caused by the disruption of a structural protein, and it highlights the importance of understanding the role of extracellular matrix in maintaining tissue integrity.
**Correct Answer:** C. Klinefelter syndrome
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.