Androgen insensitivity syndrome Flashcards

1
Q

What is androgen insensitivity syndrome

A

Condition where cells are unable to respond to androgen hormones due to a lack of androgen receptors

Genetically male (XY)

Extra androgens converted to oestrogen resulting in female secondary sexual characteristics

Female phenotype - patients have normal female external genitalia and breast tissue but also have testes in the abdomen or inguinal canal and absence of uterus, upper vagina and cervix due to anti-Mullerian hormone production by testes

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2
Q

Describe the genetics of androgen insensitivity syndrome

A

X-linked recessive genetic condition - mutation in androgen receptor gene on the X chromosome.

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3
Q

Describe the presentation of androgen insensitivity syndrome

A

Infancy with inguinal hernias containing testes

Primary amenorrhoea at puberty

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4
Q

Describe the results of hormone tests in androgen insensitivity syndrome

A

Raised LH
Normal/raised FSH
Normal/raised testosterone levels for a male
Raised oestrogen levels for a male

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5
Q

Describe the management of androgen insensitivity syndrome

A

MDT
Bilateral orchidectomy - to avoid testicular tumours
Oestrogen therapy
Vaginal dilators or surgery to create an adequate vaginal length

Support and counselling

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