List I (Syndrome) List II (Conditions) A. Androgen Insensitivity syndrome 1. Mullerian agencies with 46 XX B. Mayer Rockitansky-Kuster-Hauser syndrome 2. Female phenotype, 46 XY with absent Mullerian system C. Swyer's syndrome 3. Hypogonadotrophic Hypogonadism with Anosmia D. Kallman syndrome 4. Female phenotype with 46 XY gonadal dysgenesis with patent Mullerian system
Syndrome Matching Explanation
This solution explains the matching between specific syndromes (List I) and their associated medical conditions (List II).
Syndrome Analysis and Matching:
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A. Androgen Insensitivity Syndrome (AIS): Individuals with this condition have XY chromosomes but their bodies do not respond to androgens. This results in a female phenotype. Since the testes produce Anti-Mullerian Hormone (AMH), the Mullerian system (uterus, fallopian tubes) is absent.
Match: 2. Female phenotype, 46 XY with absent Mullerian system -
B. Mayer Rockitansky-Kuster-Hauser (MRKH) Syndrome: This condition affects females (typically 46 XX) and is characterized by the congenital absence or underdevelopment of the uterus, cervix, and vagina. It represents a failure in Mullerian duct development.
Match: 1. Mullerian agencies with 46 XX -
C. Swyer Syndrome: Also known as XY gonadal dysgenesis, individuals have XY chromosomes but underdeveloped gonads (streak gonads) and a female phenotype. They possess internal Mullerian structures (uterus, fallopian tubes) because functional testes are absent, and thus AMH is not produced.
Match: 4. Female phenotype with 46 XY gonadal dysgenesis with patent Mullerian system -
D. Kallman Syndrome: This genetic disorder is defined by hypogonadotropic hypogonadism (delayed or absent puberty due to hormonal issues) and the congenital inability to smell (anosmia).
Match: 3. Hypogonadotrophic Hypogonadism with Anosmia
Correct Matching Summary:
Based on the analysis, the correct pairings are:
- A matches with 2
- B matches with 1
- C matches with 4
- D matches with 3
This corresponds to the code A-2, B-1, C-4, D-3.
Important Questions from Developmental Disorders
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.
- 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?
- The Gartner's duct cyst is usually located in
- Which one of the following statements is NOT correct regarding Gastroschisis?
- 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:
