A patient with sho stature, sexual infantilism and congenital anomalies with chromosomal abnormalities `X0′. Diagnosis is –
**Core Concept**
The patient's presentation of short stature, sexual infantilism, and congenital anomalies with a chromosomal abnormality of `X0' is indicative of Turner syndrome, a genetic disorder affecting females.
**Why the Correct Answer is Right**
Turner syndrome occurs due to the absence or partial deletion of one X chromosome in 45,X females. This leads to gonadal dysgenesis, resulting in sexual infantilism and short stature. The syndrome is also associated with various congenital anomalies, including heart defects, kidney abnormalities, and hearing loss.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is not relevant to the patient's presentation of Turner syndrome.
**Option B:** Down syndrome, characterized by an extra copy of chromosome 21, is not associated with the `X0' chromosomal abnormality.
**Option C:** Klinefelter syndrome, characterized by an extra X chromosome in males (47,XXY), is not relevant to the patient's presentation of Turner syndrome.
**Clinical Pearl / High-Yield Fact**
Turner syndrome is the most common sex chromosome disorder in females, affecting approximately 1 in 2,500 live births.
**Correct Answer: C. Klinefelter syndrome is associated with an extra X chromosome in males (47,XXY), not a deleted X chromosome in females (45,X).**