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Question

Rokintansky - Kuster - Hauser syndrome is associated with:

The correct answer is
All of the above

Rokitansky-Küster-Hauser (RKHS) syndrome, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a disorder characterized by the absence of or underdeveloped müllerian structures in females. Here's a detailed breakdown of the question:

  1. Understanding the Condition:
    • Primary Amenorrhea with Mullerian Agenesis: This condition is characterized by the absence of menstrual periods (amenorrhea) due to mullerian duct anomalies, which include the underdevelopment or absence of the uterus and the upper part of the vaginal canal.
    • Renal Abnormalities: It is common for individuals with MRKH syndrome to have associated renal abnormalities, such as horseshoe kidney or unilateral renal agenesis.
    • Normal Hormone Profile: Despite the structural anomalies, the hormonal profile in individuals with this syndrome is typically normal. This means normal functioning ovaries, which results in the development of secondary sexual characteristics like normal breast development.
  2. Evaluation of the Options:
    • Since the syndrome encompasses all the mentioned conditions - primary amenorrhea due to mullerian agenesis, the presence of renal abnormalities, and a normal hormone profile - the correct answer is "All of the above."
  3. Conclusion: Rokitansky-Küster-Hauser syndrome is indeed associated with primary amenorrhea with mullerian agenesis, renal abnormalities, and a normal hormonal profile. Therefore, the choice "All of the above" accurately reflects the characteristics of this syndrome.
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Important Questions from Developmental Disorders

  1. Which of the following are correct regarding androgen insensitivity syndrome? 

    1. Inherited as X-linked recessive disorder 

    2. Karyotype is 46 XXY 

    3. It is also called testicular feminization 

    4. Confirmation of diagnosis by gonadal biopsy 

    Select the answer using the code given below.

  2. A 16-year-old girl with primary amenorrhoea presents to the gynaecology OPD for evaluation. She has normal secondary sexual characters. Her karyotype is 46,XX and ultrasound reveals normal ovaries and tubes but absent uterus. What is her clinical diagnosis?
  3. The Gartner's duct cyst is usually located in
  4. Which one of the following statements is NOT correct regarding Gastroschisis?
  5. A 16 year old girl presents with primary amenorrhea with absent vagina, cervix and uterus in the presence of normal secondary sexual characteristics. Ovaries are present on USG. The most probable diagnosis is:
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