A 16 year old girl with blind vagina and absent uterus presents to you. The investigation you will like to do first is :
**Core Concept**
The patient's presentation of a blind vagina and absent uterus is suggestive of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a rare congenital disorder characterized by the underdevelopment or absence of the vagina and uterus in individuals with normal ovaries and external genitalia.
**Why the Correct Answer is Right**
In MRKH syndrome, the goal of initial investigation is to confirm the presence of normal ovaries, which is crucial for assessing fertility potential and guiding further management. An ultrasound of the pelvis with a vaginal probe will allow visualization of the ovaries and assess for the presence of any other potential abnormalities such as renal anomalies.
**Why Each Wrong Option is Incorrect**
**Option A:** A CT scan of the pelvis would not be the first-line investigation in this case, as it exposes the patient to unnecessary radiation and may not provide more information than a pelvic ultrasound.
**Option B:** A hysterosalpingogram (HSG) would not be suitable as the first investigation, as it involves the insertion of a contrast agent into the vagina and uterus, which may not be present in this patient.
**Option C:** A laparoscopy may be considered in some cases to assess for potential renal anomalies or to perform surgical correction, but it would not be the initial investigation of choice.
**Clinical Pearl / High-Yield Fact**
It is essential to remember that MRKH syndrome is a diagnosis of exclusion, and a thorough evaluation of the patient's hormonal and anatomical status is necessary to confirm the diagnosis.
**Correct Answer:** C.