hypogonadism female

Question 1

definition of hypogonadism - F

Answer 1

characterised by impairment of ovarian function

Question 2

aetiology of hypogonadism - F

Answer 2

primary hypogonadism - hypergonadotrophic

gonadal dysgenesis - chromosomal abnormaties eg Turner’s syndrome, FMR1 gene premutation carriers CGG repeats between 55 and 200

gonodal damage - autoimmune, iatrogenic (chemo, radiation, surgery)

secondary hypogonadism - hypogonadotrophic

functional - stress, weight loss, excessive exercise, eating disorders (anorexia nervosa, bulimia)

pituitary/hypothalamic tumours and infilitrative lesions - pituitary adenomas, craniopharyngiomas, haemochromatosis

hyperprolactinaemia - prolactinomas or tumours causing pit stalk compression

congenital GnRH deficiency - Kallmann’s syndrome, idiopathic

Question 3

epidemiology of hypogonadism - F

Answer 3

secondary hypogonadism is a more common cause of an ovulation amenorrhoea than primary

turners syndrome in up to 1.5% of conceptions, 10% spontaneous abortions and 1 in 2000-25000 live births

Question 4

symptoms of hypogonadism

Answer 4

symptoms of the underlying cause

symptoms of oestrogen deficiency:

• night sweats
• hot flush
• vaginal dryness
• dyspareunia
• low libido
• infertility

Question 5

signs of pre-pubertal hypogonadism - F

Answer 5

delayed puberty - primary amenorrhoea, absent breast development, no secondary sexual characteristics

eunuchoid proprotions - long legs, high arm span for height

Question 6

signs of post-pubertal hypogonadism - F

Answer 6

regression of secondary sexual characteristics - loss of secondary sexual hair, breast atrophy

perioral and periorbital fine facial wrinkles

Question 7

signs of underlying conditions that cause hypogonadism

Answer 7

hypothalamic/pituitary disease - visual field defects

kallmann’s syndrome - anosmia

Turner’s syndrome - short stature, low posterior hair line, high arched palate, widely spaced nipples, wide carrying angle, short 4th and 5th metacarpals

congenital lymphoedema

autoimmune primary ovarian failure - signs of other autoimmune disease eg hyperpigmentation in Addison’s disease or vitiligo

Question 8

investigations for hypogonadism - F

Answer 8

low serum oestradiol

serum FSH and LH - high in primary hypogonadism (due to low feedback inhibition by ovarian oestradiol and inhibin), low or inappropriately normal in secondary

Question 9

investigations to determine the primary aetiology of F hypogonadism

Answer 9

karyotype to look for chromosomal abnormalities - complete or partial deletion of the X chromosome in Turner’s, or presence of y chromosome

pelvic imaging - US and or MRI - if primary amenorrhoea to demonstrate the presence or absence of the uterus and vagina and vaginal or cervical outlet obstruction (Mullerian afenesis, androhen insensitivity, transverse vaginal septum), imperforate hymen

Question 10

investigations in unexplained pre-mature ovarian failure

Answer 10

screen for pre-mutation in the FMR1 gene after appropriate genetic counselling and informed consent

Women with the FMR1 pre-mutation are at risk of having a child with mental retardation as pre-mutations are unstable when transmitted by females and can expand to a full mutation causing fragile X syndrome. Male carriers of the FMR1 pre-mutations also at risk of developing ataxia and tremor (fragile X-associated tremor/ataxia syndrome)

Question 11

investigations into aetiology of secondary hypogonadism - F

Answer 11

pit func tests (9am cortisol, TFTs, prolactin)

visual field testing

hypothalamic-pituitary MRI

small tests for anosmia

serum transferrin saturation if hereditary haemochromatosis is suspected

Question 12

investigations of associated conditions of hypogonadism

Answer 12

turner’s syndrome - periodic echocardiography and cardiology follow up, renal US

autoimmine oophoritis - evaluate for autoimmune adrenal insufficiency by measuring 21-hydroxylase Ab and if +ve an ACTH stimulation test

Question 13

summarise androgen insensitivity syndrome

Answer 13

mutations in the androgen receptor gene on teh X chr

phenotypically female but have XY karyotype and a male range serum testosterone

removal of gonads deferred until immediately after pubertal maturation

Question 14

mx for premature ovarian insufficiency

Answer 14

combined continous hormonal replacement therapt
counselling
topical oestrogen
ART if want pregnancy

Question 15

complications of premature ovarian failure

Answer 15

osteoporosis
cardiovascular disease

Question 16

features of kallman’s

Answer 16

‘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