A girl has primary amenorrhea with normal ovaries, absent internal genitalia but normal external genitalia. Most probable diagnosis :
**Core Concept**
Primary amenorrhea is a condition where a person has not experienced menstruation by the age of 16, despite normal secondary sexual characteristics. This girl's case presents with normal ovaries, indicating that the ovaries are functioning properly, but there is an absence of internal genitalia, which suggests a developmental issue related to the Müllerian ducts.
**Why the Correct Answer is Right**
The most likely diagnosis is Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a rare congenital disorder characterized by the absence or underdevelopment of the vagina and uterus, despite normal ovarian function. This condition is often associated with the failure of the Müllerian ducts to develop, leading to the absence of internal genitalia. The presence of normal external genitalia suggests that the development of the external genitalia was not affected.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is not provided, so we will skip it.
* **Option B:** This option is also not provided, so we will skip it.
* **Option C:** This option is not provided, so we will skip it.
* **Option D:** This option is also not provided, so we will skip it.
**Clinical Pearl / High-Yield Fact**
MRKH syndrome is often associated with other congenital anomalies, such as renal abnormalities, and may also present with a range of psychological and emotional challenges. A high index of suspicion is necessary to diagnose this condition, as the symptoms may be subtle and not immediately apparent.
**Correct Answer:** D.