Pre-Pubertal and Congenital Gynaecological Disorders - Androgen Insensitivity Syndrome

Question 1

What is Androgen Insensitivity Syndrome?

Answer 1

A condition where cells are unable to respond to Androgen hormones due to a lack of Androgen receptors.

Question 2

Aetiology of Androgen Insensitivity Syndrome.

Answer 2

X-Linked Recessive : Mutation in Androgen Receptor Gene on X chromosome.

Question 3

Why was AIS previously known as Testicular Feminisation Syndrome?

Answer 3

Extra Androgens are converted into Oestrogen which results in female secondary sexual characteristics - treated as female.

Question 4

Consequences of AIS.

Answer 4

1. Testes in Abdomen/Inguinal Canal.
2. Absence of Uterus, Upper 1/3 Vagina, Cervix, Fallopian tubes and Ovaries.
3. No development of female internal genitalia.
4. Lack of Pubic Hair, Facial Hair and Male-Type Muscle Development.
5. Infertile.
6. Increased Risk of Testicular Cancer (SO REMOVE TESTES).

Question 5

What is Partial AIS?

Answer 5

Cells have a partial response to androgens.

Question 6

How does Partial AIS present? (6)

Answer 6

Ambiguous Signs/Symptoms :

1. Micropenis.
2. Clitoromegaly.
3. Bifid Scrotum.
4. Hypospadias.
5. Diminished Male Characteristics.

Question 7

How does AIS usually present? (3)

Answer 7

1. Infancy : Inguinal Hernias (with Testes).
2. Puberty : Primary Amenorrhoea.
3. Breast Development.

Question 8

Investigations of Androgen Insensitivity Syndrome (4).

Answer 8

1. Raised LH.
2. Normal/Raised FSH.
3. Normal/Raised Testosterone Levels.
4. Raised Oestrogen Levels.
5. Buccal Smear/Chromosome Analysis : 46XY Genotype.

Question 9

Management of Androgen Insensitivity Syndrome (4).

Answer 9

1. Specialist MDT.
2. Bilateral Orchidectomy (testicular cancer risk).
3. Oestrogen Therapy.
4. Vaginal Dilators/Surgery (Adequate Vaginal Length).