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Question

A 16-year-old girl presents with primary amenorrhoea and repeated periodic pain. On examination, a suprapubic mass is felt up to the umbilicus. The most likely diagnosis is

The correct answer is
cryptomenorrhoea

Diagnosis of Primary Amenorrhea and Pelvic Mass

The patient presents with classic signs suggesting an obstruction in the female reproductive tract's outflow. Key features include:

  • Age: 16 years
  • Primary Amenorrhoea: No menstrual periods ever started.
  • Periodic Pain: Cyclical pain occurring at expected intervals.
  • Suprapubic Mass: A palpable mass extending towards the umbilicus.

Evaluating the Options

Cryptomenorrhoea

This condition refers to menstruation that is hidden or cannot exit the body. Common causes include an imperforate hymen or a transverse vaginal septum.

  • Primary Amenorrhoea: The blockage prevents menstrual blood from exiting.
  • Periodic Pain: Monthly accumulation of blood behind the obstruction (hematocolpos or hematometra) causes cyclic pain.
  • Suprapubic Mass: The accumulated blood forms a distensible mass, often palpable abdominally.

This diagnosis aligns perfectly with all the patient's symptoms and examination findings.

Large Ovarian Cyst

While a large ovarian cyst can cause a palpable mass and pain, it typically does not cause primary amenorrhoea unless it's hormonally active or causing significant compression leading to secondary amenorrhoea. It doesn't inherently explain the periodic nature related to menstruation.

Bladder-Neck Hypertrophy

This condition affects the bladder outlet and is not associated with amenorrhoea or the described symptoms in a young female.

Uterine Leiomyoma

Uterine fibroids can cause a mass and pain, and sometimes abnormal bleeding, but primary amenorrhoea is an atypical presentation. They usually occur later in reproductive life.

Conclusion

Given the combination of primary amenorrhoea, periodic pain, and a suprapubic mass in a 16-year-old girl, cryptomenorrhoea due to an outflow tract obstruction is the most likely diagnosis.

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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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