Question
Diagnose the disorder based on features of external genitalia of a male child shown in the photograph below ?
A. Cushing’s syndrome.
B. Partial androgen insensitivity syndrome.
C. True hermaphrodite.
D. Congenital adrenal hyperplasia.
Show Answer
Correct Answer ยป B
Explanation
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Androgen insensitivity
- Refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy.
- This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cell in how to use it.
Partial androgen insensitivity syndrome (pais):
- It is part of a spectrum of syndromes that also includes androgen insensitivity syndrome (AIS) and mild androgen insensitivity syndrome (mais).
- In each case, the development of the reproductive and genital organs of the fetus is affected, as a result of the gene mutation.
- During the first 10 weeks of pregnancy, the external anatomy of male and female embryos appears to be identical.
- The presence or absence of the male sex hormone testosterone determines whether male or female genitalia develop.
- In partial androgen insensitivity syndrome, the development of the external genitals will be intermediate between male and female (ambiguous genitalia).
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