Endocrine/Reproductive - Androgen Insensitivity Syndrome

Question 1

Definition

Answer 1

Cells unable to respond to androgen hormones due to a lack of androgen receptors.
It is an X-linked recessive genetic condition, caused by a mutation in the androgen receptor gene on the X chromosome.
Extra androgen’s are converted into oestrogen, resulting in female secondary sexual characteristics. It was previously known as testicular feminisation syndrome.

Question 2

Typical presentation for complete androgen insensitivity syndrome

Answer 2

Px is genetically male with XY sex chromosome. However absent response to testosterone and conversion of additional androgen’s to oestrogen =
- Female phenotype externally = male sexual characteristics do not develop + patients have normal female external genitalia and breast tissue
- Px has testes in abdomen or inguinal canal + absence of a uterus, upper vagina, cervix, fallopian tubes and ovaries
- Px has lack of pubic hair, facial hair, and male type muscle development.
- Px taller than female average
- Patient infertile = increased risk of testicular cancer unless the testes are removed

Question 3

Typical presentation for Partial androgen insensitivity syndrome

Answer 3

Cell have a partial response to androgen’s = Px presents with more ambiguous signs and symptoms e.g.
- micro penis or clitoromegaly
- bifid scrotum
- hypospadias and diminished male characteristics

Question 4

Signs and symptoms

Answer 4

Infancy = inguinal hernias containing testes
Puberty = primary amenorrhoea

Question 5

Diagnosis

Answer 5

The results of hormone tests are:
- Raised LH
- Normal or raised FSH
- Normal or raised testosterone levels (for a male)
- Raised oestrogen levels (for a male)

Question 6

Treatment

Answer 6

• Bilateral orchidectomy (removal of the testes) to avoid testicular tumours
• Oestrogen therapy
• Vaginal dilators or vaginal surgery can be used to create an adequate vaginal length

Generally, patients are raised as female, but this is sensitive and tailored to the individual. They are offered support and counselling to help them understand the condition and promote their psychological, social and sexual wellbeing.

Question 7

MDT involved

Answer 7

Paediatrics
Gynaecology
Urology
Endocrinology
Clinical psychology