Question
Diagnose disorder based on features of external genitalia of a male child photograph:
A. Cushing’s Syndrome.
B. Androgen Insensitivity Syndrome.
C. Hermaphrodite.
D. Congenital Adrenal Hyperplasia.
Show Answer
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Correct Answer » B Explanation |
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Ans: B. Androgen insensitivity Syndrome.
The image is showing different grades of Androgen insensitivity Syndrome.
Androgen insensitivity syndrome (AIS).
- It is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals.
- This failure of virilization can be either complete androgen insensitivity syndrome or partial androgen insensitivity syndrome depending on the amount of residual receptor function.
- Both individuals with partial androgen insensitivity syndrome and individuals with complete androgen insensitivity syndrome have 46,XY karyotypes.
- Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus.
- The phenotype of individuals with partial androgen insensitivity syndrome may range from mildly virilized female external genitalia (clitorimegaly without other external anomalies) to mildly undervirilized male external genitalia (hypospadias and/or diminished penile size).
- In either case, affected individuals have normal testes with normal production of testosterone and normal conversion to dihydrotestosterone (DHT), which differentiates this condition from 5-alpha reductase deficiency.
- Because the testes produce normal amounts of müllerian-inhibiting factor (MIF), affected individuals do not have fallopian tubes, a uterus, or a proximal (upper) vagina.
