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REPRO > Amenorrhea > Flashcards

Amenorrhea Flashcards

1
Q

Primary amenorrhea definition

A

14 years with no 2ndary sexual characteristics
OR
16 y with 2ndary sexual characteristics

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2
Q

Secondary amenorrhea definition

A

previous history of menstruation AND no menses for 3 cycles/6 months

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3
Q

Endocrinological Hx of amenorrhea

A 
CNS mass symptoms
thyroid
prolactin
androgens
mass symptoms in viscera
adrenal symptoms
outlet
uterus/cervix
ovary/pituitary
hypothalamus (Kallman's - anosmia)
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4
Q

Amenorrhea physical examination

A

Record of growth, Tanner stages, height/weight %
BP
Head to toe - neuro, thyroid, abdominal, genital, skin

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5
Q

Primary amenorrhea investigation

A 
bHCG
FSH, LH, estradiol
PRL, TSH
Progesterone challenge test - if negative, consider head imaging
- if estrogen is present, progesterone would cause sheeding
Androgens if symptoms are present
pelvic ultrasound
Karyotype
MRI head
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6
Q

Hypergonadotropic hypogonadism

A

Ovaries are “failing”
high FSH, low estrogen
look for chromosomal abnormalities

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7
Q

Hypogonadotropic hypogonadism

A

low FSH, low estrogen

CNS is “failing”

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8
Q

Eugonadotropic eugonadism

A

gonads are working

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9
Q

hypergonadotropic hypogonadism distribution

A

46% of amenorrhea
abnormal karyotype - 26%
normal karyotype - 17%

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10
Q

Hypogonadotropic hypogonadism distribution

A

31%
reversible - 18
irreversible - 13

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11
Q

Eugonadic distribution

A

26% of amenorrhea

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12
Q

Hypogonadotropic hypogonadism CNS etiology

A

adenoma, prolactinoma, craniopharyngioma, other CNS lesions
Sheehan’s: acquired insult - reduced perfusion to pituitary
Kallman’s
Idiopathic
FSH beta mutation - defect in FSH receptor

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13
Q

Kallman’s syndrome

A

isolated GnRH deficiency caused by disrupted GnRH neuron migration
anosmia +/- midline facial defects
possible KAL1 gene mutation
never go into puberty on their own

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14
Q

Non-CNS etiology of amenorrhea

A 
anorexia
strenuous exercise
stress
primary hypothyroidism
hyperprolactinemia
physiological delay
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15
Q

Eugonadotropic eugonadic amenorrhea etiology

A

PCOS
Hyperprolactinemia - low/normal gonadotropin levels
Structural

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16
Q

Hyperprolactinemia etiology

A

prolactin-inducing medications (antipsychotics, antiepileptics)
hypothyroidism
pituitary tumour
prolactinoma

17
Q

Congenital structural causes of amenorrhea

A

imperforated hymen
vaginal septum - transverse/longitudinal
cervical agenesis
Mullerian agenesis: MRKH

18
Q

Acquired structural causes of amenorrhea

A

Asherman’s

19
Q

Mullerian agenesis

A

normal breasts, normal pubic hair, normal ovaries, no uterus, no cervix, no upper vagina
10-40% have renal abnormality
10-15% have skeletal abnormality

20
Q

Mullerian agenesis tx

A

psych support/sexual activity, fertility
first line: vaginal dilators
second line: surgical neovagina

21
Q

Special tests for structural causes of amenorrhea

A

physical exam
TSH, PRL, androgens
progesterone challenge test
ultrasound

22
Q

Progesterone challenge test

A

provides an estimate of estrogen concentration and confirms presence of an estrogen primed uterus
- daily progesterone for 5-10 d
Positive response: normal withdrawal bleeding (3-5 d of menses) usually occurring 2-3 days after end of progestin, but up to 10%
will be positive in 90% of women with E2 > 50 pg/ mL

23
Q

Hypergonadotropic hypogonadism etiology

A

Primary ovarian insufficiency (POI)
normal karyotype
abnormal karyotype

24
Q

Hypergonadotropic hypogonadism workup

A

Karyotype
Autoimmune: thyroid, pancreas, adrenals, ovary - look for antibodies, HbA1cC, am cortisol, calcium/phosphate for parathyroid

25
Q

Hypergonadotropic hypogonadism with N karyotype etiology

A 
previous ovarian surgery
chemotherapy, radiotherapy
gonadal dysgenesis
autoimmune - Addison's, thyroid, T1DM, myasthenia gravis, SLE
receptor mutations - rare
idiopathic
fragile X premutation
26
Q

Fragile X premutations

A

FMR1
increased CGG repeats in FMR1 gene
most common inherited cause of mental retardation and autism
family history of autism, mental retardation, developmental delay
14% in familial PO1, 1-7% in sporadic

27
Q

Hypergonadotropic hypogonadism with abN karyotype - etiology

A

Turner - 45XO, mosaics

46XY - AIS, Swyer syndrome, non-functioning SRY mutation

28
Q

Turner syndrome characteristics

A 
short stature
webbed neck
low set ears/hairline
wide spaced nipples/shield chest
short 4th metacarpal
wide carrying angle
absent sexual development

mosaic: 50%’ XY: 5%
15% begin puberty

29
Q

Turner syndrome treatment

A

pubertal induction
hormone replacement
fertility, contraception

30
Q

Turner syndrome investigation/monitoring

A

Renal ultrasound (Dx, q3-5 y): 36-70%, horseshoe kidney, solitary, rotational, duplicated
echo (Dx, 1x 12-15 y, then q5 y): 33%, bicuspid aortic valve, coarctation of aorta, aortic valve disease
Autoimmune (Dx q1-2 y): screen for DM, thyroid, hepatitis, celiac, thrombocytopenia
Hearing loss: audiometry x 1
ophthalmology
osteoporosis: up to 90%, BMD
Gonadectomy: if Y present

31
Q

Androgen Insensitivity Syndrome

A

X-linked recessive
mutation in androgen receptor
inguinal testes (no spermatogenesis), breast development (peripheral conversion of androgen –> estrogen), no pubic hair, blind vagina, no uterus
Complete AIS: gonadectomy at puberty
Incomplete AIS: may be virilized, gonadectomy at diagnosis

32
Q

Androgen synthesis disorder

A

5-alpha reductase deficiency (can’t convert T –> DHT)
autosomal recessive
internal male, external female
virilize at puberty

33
Q

Hypogonadotropic hypogonadism tx

A

get back to weight at which you last had menstrual cycle
reduce stress
for pregnancy - ovulation induction with gonadotropins ($$$$$$)

34
Q

Eugonadotropic eugonadism tx

A

Hypothyroidism/hyperthyroidism: correct/synthroid
PCOS: health weight, treat concerning symptom (hirsutism/acne), cyclic progestin
for pregnancy - ovulation induction: clomiphene citrate, mesormin, laparoscopic ovarian drilling, gonadotropins

35
Q

Hypergonadotropic hypogonadism treatment

A

psych support
hormonal replacement until age of menopause
-if delayed puberty, may need induction
- hormone replacement with estrogen/cyclic progestin, or combined OCP

15% can resume ovulation, 5-10% may become pregnant - counsel on contraception
fertility: oocyte donation, adoption

36
Q

Causes of amenorrhea with NO breast development with uterus

A 
POI
Gonadal dysgenesis (Turner, Swyer)
Autoimmune oophoritis
Fragile X premtutation
Iatrogenic - RT, chemo
galactossemia
Hypothalamus - ED, stress, chronic, Kallman, craniopharyngioma, infection
37
Q

Causes of amenorrhea with breast development and uterus

A 
outflow obstruction
anovulation
high PRL
hypothyroid
PCOS
hypothalamic
38
Q

Causes of amenorrhea with no breast development/no uterus

A

XY karyotype
agonadism - vanishing testes
Enzyme deficiency

39
Q

Causes of amenorrhea with breast development with NO uterus

A

AIS

MRKH (Mullerian agenesis)

REPRO (18 decks)

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