**Question:** A 19 years old patient came to the out patient department with complaints of primary amenorrhea. She had well-developed breast and pubic hair. However, there was absence of vagina and uterus but normal ovaries. Likely diagnosis is:

A. Turner syndrome
B. Klinefelter syndrome
C. Imperforate hymen
D. Mayer-Rokitansky-Küster-Hauser (M-R-K) syndrome

**Correct Answer:** D. Mayer-Rokitansky-Küster-Hauser (M-R-K) syndrome

**Core Concept:**

Mayer-Rokitansky-Küster-Hauser (M-R-K) syndrome, also known as uterovaginal agenesis, is a rare congenital disorder characterized by the absence of a vagina and uterus, along with normal ovaries and a well-developed pubic hair and breast. The condition is caused by incomplete development or absence of Mullerian ducts during embryonic development.

**Why the Correct Answer is Right:**

M-R-K syndrome is the correct answer because:

1. The patient has primary amenorrhea, which is the absence of menstruation by the expected menarche age (14-15 years) due to the absence of the uterus and vagina.
2. She has normal ovaries, which is essential for understanding the condition.
3. The presence of well-developed breast and pubic hair is indicative of normal estrogen production and response to signals from the hypothalamus and pituitary gland.

**Why Each Wrong Option is Incorrect:**

A. Turner syndrome (45,X karyotype) typically presents with short stature, webbed neck, cleft palate, and other developmental anomalies. It is different from M-R-K syndrome.

B. Klinefelter syndrome (47,XXY karyotype) is characterized by gynecomastia, infertility, and small testicles. It differs from M-R-K syndrome.

C. Imperforate hymen is a congenital anomaly where the hymen is missing or not developed, which does not explain the absence of vagina and uterus seen in M-R-K syndrome.

D. Mayer-Rokitansky-Küster-Hauser (M-R-K) syndrome is the correct answer because it explains the absence of vagina and uterus due to incomplete development of Mullerian ducts, while having normal ovaries, breast development, and pubic hair. This matches the patient's clinical presentation.

**Clinical Pearl:**

Mayer-Rokitansky-Küster-Hauser syndrome is an important clinical entity for understanding the pathophysiology of primary amenorrhea due to absent or rudimentary Mullerian duct development. Understanding this condition aids in making an accurate diagnosis and treatment plan for patients presenting with similar symptoms.