male reproductive disorders W8

Question 1

what are testicular dysgenesis syndromes caused by?

Answer 1

environmental factors

Question 2

types of testicular dysgenesis syndromes?

Answer 2

cryptorchidism
hypospadias
infertility
testicular cancer
hypogonadism

Question 3

disorders of sex development types and causes?

Answer 3

caused by genetics
ambiguous genitalia
gonadal tumours
hypogonadism
infertility

Question 4

what are disorders of sex development caused by?

Answer 4

genetics

Question 5

genetic sex karyotypes?

Answer 5

XY - undervirilised
XX - virilised
other

Question 6

how can gonads and internal reproductive structures be identified

Answer 6

USS (ultrasound scan)
MRI

Question 7

AMH?

Answer 7

anti-mullerian hormone
produced by testes
responsible for regression of uterus

Question 8

impact of failure of testicular development and function?

Answer 8

genitalia somewhere between typical male and typical female phenotype

Question 9

what is hypospadias

Answer 9

urethral meatus located distal to normal placement on tip of penis

Question 10

what is testosterone and dihydrotestosterone important for

Answer 10

testosterone - gonadal descent
dihydrotestosterone - external genitalia

Question 11

what enzyme converts testosterone to dihydrotestosterone?

Answer 11

5 alpha reductase

Question 12

what is cryptorchidism?

Answer 12

undescended testes

Question 13

what would high testosterone and normal DHT indicate? what may this cause?

Answer 13

problem at level of androgen receptor
cryptorchidism and ambiguous genitalia

Question 14

AIS? partial vs complete?

Answer 14

androgen insensitivity syndrome.
androgens being produced but not being able to act on receptor.
complete = appearance of typical female phenotype.
partial = eg ambiguous genitalia

Question 15

genetics in differential sex development - testes?

Answer 15

bipotential gonad -> SRY -> SOX9 -> testis

Question 16

potential reproductive consequences of childhood cancer treatment?

Answer 16

infertility
delayed puberty
hypogonadism

radiotherapy affect brains production of gonadotrophs and damages gonads
chemotherapy damages gonads

Question 17

pubertal staging measured by what?

Answer 17

tanner staging (stage 1 - stage 5)

Question 18

what is measured in pubertal staging and what does different results mean

Answer 18

testicular volume
1-3ml = pre-puberty
4-10ml = puberty
12ml+ = normal adult volume

Question 19

investigations for hormone production?

Answer 19

GnRH stimulation test
tests maximum production of hormones (LH, FSH, testosterone)
more sensitive indicator than looking at basal levels of these hormones

Question 20

low LH, low FSH, low testosterone suggests what?

Answer 20

production of gonadotrophs in brain is affected, this is called
hypogonadotropic hypogonadism (low gonadotrophins and low gonadal function)

Question 21

when does hypogonadotropic hypogonadism occur?

Answer 21

delayed puberty (most common)
congenital hypog hypog
brain tumours
radiotherapy

Question 22

gonadal causes of delayed puberty hormone levels? what is this called?

Answer 22

high LH, high FSH, low testosterone
hypergonadotropic hypogonadism

Question 23

when does hypergonadotropic hypogonadism occur?

Answer 23

Klinefelter syndrome
DSD/gonadal dysgenesis
chemo/radiotherapy

Question 24

key thing to ask in patients with hypogonadotropic hypogonadism? why?

Answer 24

if they can smell
anosmia (inability to smell) is a classic feature of Kallmann’s syndrome

Question 25

treatment of hypogonadotropic hypogonadism?

Answer 25

testosterone - induce puberty (not able to induce fertility)
gonadotrophins - induce fertility

Question 26

investigations of testicular masses

Answer 26

scrotal ultrasound
tumour markers (hCG, AFP, LDH)

Question 27

name for surgical removal of the testes?

Answer 27

orchidectomy

Question 28

investigations for testicular cancer?

Answer 28

surgery (orchidectomy)
determine if seminoma v non-seminoma
CT/MRI to try stage cancer (TNM staging criteria)

Question 29

testicular cancer management and fertility options?

Answer 29

surgery/chemotherapy/radiotherapy
risks of infertility (treatment and TDS)
fertility options are sperm banking before treatment