Disorders of sex hormones

Question 1

Levels of LH and testosterone in primary hypogonadism (Klinefleter’s syndrome)?

Answer 1

LH high

Testosterone low

Question 2

Levels of LH and testosterone in hypogonadotrophic hypogonadism (Kallman’s syndrome)?

Answer 2

LH low

Testosterone low

Question 3

Levels of LH and testosterone in androgen insensitivity syndrome?

Answer 3

high

normal/high

Question 4

testosterone secreting tumour levels of LH and testosterone?

Answer 4

low LH

high testosterone

Question 5

what is the karyotype associated with Klinefleter’s syndrome?

Answer 5

karyotype 47 XXY

Question 6

features of Klinefeletr’s syndrome?

Answer 6

often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels

Question 7

diagnosis of klineflter’s syndrome

Answer 7

chromosomal analysis

Question 8

what is kallman’s syndrome?

Answer 8

Kallman’s syndrome is a recognised cause of delayed puberty secondary to hypogonadotrophic hypogonadism.

It is usually inherited as an X-linked recessive trait.

Kallman’s syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.

Question 9

What is a sign of kallman’s syndrome?

Answer 9

lack of smell (anosmia) in a boy with delayed puberty

cleft lip/palate and visual/hearing defects

Question 10

features of kallman’s syndrome

Answer 10

‘delayed puberty’
hypogonadism, cryptorchidism
anosmia
sex hormone levels are low
LH, FSH levels are inappropriately low/normal
patients are typically of normal or above average height

Question 11

what is androgen insensitivity syndrome?

Answer 11

Androgen insensitivity syndrome is an X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype.

Complete androgen insensitivity syndrome is the new term for testicular feminisation syndrome

Question 12

features of androgen insensitivity syndrome

Answer 12

‘primary amenorrhoea’

undescended testes causing groin swellings

breast development may occur as a result of conversion of testosterone to oestradiol

Question 13

Mx primary androgen insensitivity

Answer 13

counselling - raise child as female

bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)

oestrogen therapy