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Flashcards in Amenorrhea Deck (39):
1

Primary amenorrhea definition

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

2

Secondary amenorrhea definition

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

3

Endocrinological Hx of amenorrhea

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

4

Amenorrhea physical examination

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

5

Primary amenorrhea investigation

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

6

Hypergonadotropic hypogonadism

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

7

Hypogonadotropic hypogonadism

low FSH, low estrogen
CNS is "failing"

8

Eugonadotropic eugonadism

gonads are working

9

hypergonadotropic hypogonadism distribution

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

10

Hypogonadotropic hypogonadism distribution

31%
reversible - 18
irreversible - 13

11

Eugonadic distribution

26% of amenorrhea

12

Hypogonadotropic hypogonadism CNS etiology

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

13

Kallman's syndrome

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

14

Non-CNS etiology of amenorrhea

anorexia
strenuous exercise
stress
primary hypothyroidism
hyperprolactinemia
physiological delay

15

Eugonadotropic eugonadic amenorrhea etiology

PCOS
Hyperprolactinemia - low/normal gonadotropin levels
Structural

16

Hyperprolactinemia etiology

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

17

Congenital structural causes of amenorrhea

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

18

Acquired structural causes of amenorrhea

Asherman's

19

Mullerian agenesis

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

Mullerian agenesis tx

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

21

Special tests for structural causes of amenorrhea

physical exam
TSH, PRL, androgens
progesterone challenge test
ultrasound

22

Progesterone challenge test

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

Hypergonadotropic hypogonadism etiology

Primary ovarian insufficiency (POI)
normal karyotype
abnormal karyotype

24

Hypergonadotropic hypogonadism workup

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

25

Hypergonadotropic hypogonadism with N karyotype etiology

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

26

Fragile X premutations

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

Hypergonadotropic hypogonadism with abN karyotype - etiology

Turner - 45XO, mosaics
46XY - AIS, Swyer syndrome, non-functioning SRY mutation

28

Turner syndrome characteristics

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

Turner syndrome treatment

pubertal induction
hormone replacement
fertility, contraception

30

Turner syndrome investigation/monitoring

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

Androgen Insensitivity Syndrome

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

Androgen synthesis disorder

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

33

Hypogonadotropic hypogonadism tx

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

34

Eugonadotropic eugonadism tx

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

Hypergonadotropic hypogonadism treatment

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

Causes of amenorrhea with NO breast development with uterus

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

37

Causes of amenorrhea with breast development and uterus

outflow obstruction
anovulation
high PRL
hypothyroid
PCOS
hypothalamic

38

Causes of amenorrhea with no breast development/no uterus

XY karyotype
agonadism - vanishing testes
Enzyme deficiency

39

Causes of amenorrhea with breast development with NO uterus

AIS
MRKH (Mullerian agenesis)