Disorders of Sex Hormones Flashcards
name the disorder of sex hormones
LH = high
testosterone = low
primary hypogonadism (Klinefelter’s syndrome)
name the disorder of sex hormones
LH = low
testosterone = low
hypogonadotrophic hypogonadism (Kallman’s syndrome)
name the disorder of sex hormones
LH = high
testosterone = normal/high
androgen insensitivity syndrome
name the disorder of sex hormones
LH = low
testosterone = high
testosterone-secreting tumour
what karyotype is klinefelter’s syndrome?
47 XXY
what are the features of klinefelter’s syndrome?
- taller than average
- lack of secondary sexual characteristics
- small, firm testes
- infertile
- gynaecomastia
- elevated gonadotrophin levels
how is klinefelter’s syndrome diagnosed?
chromosomal analysis
how is klinefelter’s syndrome diagnosed?
chromosomal analysis
what type of cancer are patients with klinefelter’s more at risk of?
breast cancer due to gynaecomastia
what is kallman’s syndrome?
delayed puberty secondary to hypogonadotrophic hypogonadism
how is kallman’s syndrome inherited?
X-linked recessive
what is the cause of kallman’s syndrome?
failure of GnRH-secreting neurons to migrate to the hypothalamus
what is the buzzword feature of kallman’s syndrome?
anosmia + boy with delayed puberty
what are the features of kallman’s syndrome?
- ‘delayed puberty’
- hypogonadism, cryptorchidism
- anosmia
- sex hormones levels are low
- LH, FSH levels are inappropriately low/normal
- normal or above average height
what congential defects are associated with kallman’s syndrome?
- cleft lip/palate
- visual/hearing defects
what type of inheritance is androgen insensitivity syndrome?
x-linked recessive condition
what is the cause of androgen insensitivity syndrome?
end-organ resistance to testosterone
what is the karyotype of androgen insensitivity syndrome?
46 XY
(genotypically male children with female phenotype)
what are the features of androgen insensitivity syndrome?
- ‘primary amenorrhoea’ = never had a period
- undescended testes causing groin swelling
- breast development
how is androgen insensitivity syndrome diagnosed?
buccal smear or chromosomal analysis
what is the management of androgen insensitivity syndrome?
- counselling - raise child as female
- bilateral orchidectomy
- oestrogen therapy
what cancer are androgen insensitivity syndrome at higher risk for?
testicular cancer due to undescended testes
