Image Based Question – 66342

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.

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Correct Answer » B Explanation

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).