Case Discussion - Amenorrhea Flashcards
Case 1 (a)
Miss Chan, F/17
“Doctor, I haven’t had menstruation all along…”
What questions will you ask?
- Growth spurt
- Cyclical lower abdominal pain (outflow tract obstruction)
- Secondary sexual characteristics
- Thyroid symptoms
- Visual field
- PCOS (oligoamenorrhea, RARELY primary amenorrhea)
- Sexual history
- Surgical history
Hypothalamic level:
- Excessive stress, exercise, weight loss, brain tumours
Pituitary level:
- Prolactinoma, pituitary tumours compressing, galactorrhea, loss of vision
Ovarian level:
- Secondary sexual characteristics
- Premature ovarian failure (seldom presents as primary amenorrhea)
- Ovarian tumours
- Virilising tumours (adrenal tumours, hirsutism)
Case 1 (a)
Growth spurt at 14
No cyclical abdominal pain
No excessive exercise
No revent weight change
Claims no recent stress
No anosmia
No neurological symptoms
No galactorrhoea
No hirsutism or acne
What to look for in P/E?
- Stigmata of Turner Syndrome: Webbed neck, short stature, widely-spaced nipples
- Goitre, Sx of thyroid disease
- Pulse rate and BP
- Development of sexual characteristics (Tanner staging of breast and pubic hair)
- Abdominal examination (masses)
- Vaginal: Imperforate hymen (classical clinical sign = bluish bulge in introitus as blood cannot come out)
- Rectal examination (don’t do PV as she may be virgin)
Case 1 (a)
- BP: 120/70; Pulse 70/min
- Urinalysis: no glycosuria, no proteinuria
- Weight: 53.6 kg; Height: 153 cm
- Underdeveloped 2° sexual characteristics
- Breast development: Tanner stage lI
- Scanty pubic or axillary hair
- No hirsutism
- No goitre
- No abnormality detected
- Appendectomy scar
- No abdominal mass / tenderness
- Normal looking external genitalia
- No clitoromegaly
- Normal hymen
- Cervix palpable
What Ix should be performed?
FSH, LH, extradiol, prolactin, TFT (best is TSH)
Withdrawal bleeding test (give her progestogen) = if there is withdrawal bleeding, it means that her ovaries are working and there is no outflow tract abnormalities
Pelvic ultrasound
Case 1 (a)
(1) FSH, LH and estradiol is low = Hypogonadotrophic hypogonadism
(2) Uterus is atrophic as there has been no oestrogen exposure
(3) No withdrawal bleeding with progestogen withdrawal test, but withdrawal bleeding with COC indicataed that the ovaries are not producing estrogen
Hypogonadotrophic hypogonadism
- Treatment
- Hormone
- Fertility
- Sexuality
- Associated health problems
- Pubertal inducement
- Hormonal replacement (E+P) = prevent osteoporosis and promote cardiovascular health + development of secondary sexual characteristics
- Fertility: Gonadotrophin for ovulation induction, can do IVF, egg donor, adoption, remain childless
- Sexuality: no problem
Case 1 (b)
- Abdominal: Appendectomy scar, no abdominal mass / tenderness
- Pelvic: Normal looking external genitalia, no clitoromegaly, normal hymen
- Rectal: Cervix palpable
What Ix should we order?
Case 1 (b)
What further tests will you order? What is the Dx?
Karyotype: Turner syndrome, Fragile X premutation
Serum testosterone, 17-hydroxyporgesterone (if features of hyperandrogenism)
Anti-adrenal, anti-TPO
Radiological
- MRI brain/pituitary
- MRI pelvis and imaging of renal tract for co-existing renal tract malformation
- CT adrenal glands
- Laparoscopy / hysteroscopy
- And more…
Premature ovarian insufficiency
- Treatment
- Hormone
- Fertility
- Sexuality
- Associated health problems
Case 1 (d)
Abdominal:
* Appendectomy scar
* No abdominal mass / tenderness
Pelvic:
* Normal Looking external genitalia
* No clitoromegaly
* Normal hymen
Rectal:
* No cervix palpable
What Ix should we perform?
Case 1 (d)
‘No withdrawal bleeding with progestogen withdrawal test nor with oral contraceptive pills.’
How do you interpret the P and E+P challenge tests? What will you do next?
For there to be withdrawal bleeding, there must be E+P + uterus + patent lower genital tract
There is a problem with one or more of the above
Do a karyotype
Case 1 (d)
Karyotype shows 46,XX
What is the cause of amenorrhoea? Does she need hormone replacement?
Mullerian agenesis / hypoplasia
She will not need hormonal replacement: In Müllerian agenesis, aka. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), there is congenital absence or underdevelopment of the uterus and upper part of the vagina. Typically, individuals with MRKH have normal ovaries and normal hormone production.
Mullerian agenesis / hypoplasia
- Treatment
- Hormone
- Fertility
- Sexuality
- Associated health problems
Case 1 (e)
Examination:
Abdominal:
- Appendectomy scar
- No abdominal mass / tenderness
Pelvic:
- Normal Looking external genitalia
Rectal:
- No cervix palpable
What Ix should we perform?
Case 1 (e)
What should be done next?
Karyotyping: 46, XY
Case 1 (e)
What is the diagnosis?
What is the treatment of androgen insensitivity syndrome?
Case 1(f)
- F/12, good past health
- Never had menstruation
- Cyclical abdominal pain for 1 year
- She is now presenting to AED for acute retention of urine
What is the likely Dx? What would you do now?
Case 2 (a)
Abdominal:
* Appendectomy scar
* No abdominal mass / tenderness
Pelvic:
* Normal looking external genitalia
Rectal:
* Cervix palpable
Q: What will you do next?
Case 2 (a)
What is the diagnosis? How will you treat her?
Case 2 (b)
History:
* Age 17, F.5 student, virgin
* Growth spurt at age of 14
* No cyclical abdominal pain
* No excessive exercise
* No recent weight change
* Claims no recent stress
* No anosmia
* No neurological symptoms
* No galactorrhoea
* No hirsutism
What Ix should we do next?
Premature ovarian insufficiency
- Treatment
- Hormone
- Fertility
- Sexuality
- Associated health problems
Case 2 (c)
History:
* Age 17, F.5 student, virgin
* Growth spurt at age of 14
* No cyclical abdominal pain
* No excessive exercise
* Excessive weight gain in recent 6 months
* Claims no recent stress
* No neurological symptoms
* No galactorrhoea
* Increased hair growth on face and body
* Increased skin greasiness and acne
What Ix should be performed?
Case 2 (c)
What is the Dx?
“String of pearl” = PCOS
PCOS - diagnostic criteria (EHSRE Guideline 2018)
PCOS
- Treatment
- Hormone
- Fertility
- Sexuality
- Associated health problems
Case 2 (d)
What is the likely Dx? How do we confirm this Dx?
Treatment of Asherman syndrome
