male reproductive disorders W8 Flashcards
what are testicular dysgenesis syndromes caused by?
environmental factors
types of testicular dysgenesis syndromes?
cryptorchidism
hypospadias
infertility
testicular cancer
hypogonadism
disorders of sex development types and causes?
caused by genetics
ambiguous genitalia
gonadal tumours
hypogonadism
infertility
what are disorders of sex development caused by?
genetics
genetic sex karyotypes?
XY - undervirilised
XX - virilised
other
how can gonads and internal reproductive structures be identified
USS (ultrasound scan)
MRI
AMH?
anti-mullerian hormone
produced by testes
responsible for regression of uterus
impact of failure of testicular development and function?
genitalia somewhere between typical male and typical female phenotype
what is hypospadias
urethral meatus located distal to normal placement on tip of penis
what is testosterone and dihydrotestosterone important for
testosterone - gonadal descent
dihydrotestosterone - external genitalia
what enzyme converts testosterone to dihydrotestosterone?
5 alpha reductase
what is cryptorchidism?
undescended testes
what would high testosterone and normal DHT indicate? what may this cause?
problem at level of androgen receptor
cryptorchidism and ambiguous genitalia
AIS? partial vs complete?
androgen insensitivity syndrome.
androgens being produced but not being able to act on receptor.
complete = appearance of typical female phenotype.
partial = eg ambiguous genitalia
genetics in differential sex development - testes?
bipotential gonad -> SRY -> SOX9 -> testis
potential reproductive consequences of childhood cancer treatment?
infertility
delayed puberty
hypogonadism
radiotherapy affect brains production of gonadotrophs and damages gonads
chemotherapy damages gonads
pubertal staging measured by what?
tanner staging (stage 1 - stage 5)
what is measured in pubertal staging and what does different results mean
testicular volume
1-3ml = pre-puberty
4-10ml = puberty
12ml+ = normal adult volume
investigations for hormone production?
GnRH stimulation test
tests maximum production of hormones (LH, FSH, testosterone)
more sensitive indicator than looking at basal levels of these hormones
low LH, low FSH, low testosterone suggests what?
production of gonadotrophs in brain is affected, this is called
hypogonadotropic hypogonadism (low gonadotrophins and low gonadal function)
when does hypogonadotropic hypogonadism occur?
delayed puberty (most common)
congenital hypog hypog
brain tumours
radiotherapy
gonadal causes of delayed puberty hormone levels? what is this called?
high LH, high FSH, low testosterone
hypergonadotropic hypogonadism
when does hypergonadotropic hypogonadism occur?
Klinefelter syndrome
DSD/gonadal dysgenesis
chemo/radiotherapy
key thing to ask in patients with hypogonadotropic hypogonadism? why?
if they can smell
anosmia (inability to smell) is a classic feature of Kallmann’s syndrome
