Laboratory evaluation of amenorrhoea
Modified by Dr R de Villiers (2007)Dr N Oosthuizen (2006)
Dept of Chemical Pathology - UPBlock 11
Amenorrhoea
• Primary (1º)• no menarche by 16y
• Secondary (2º)• cessation of established menstruation >3-6
months
• Trend of earlier onset of menarche – workup for amenorrhoea at 15y
2º Amenorrhoea Case 1• 32y ♀• LNM 3m ago
2º Amenorrhoea: CausesCause Clues Lab investigations Other
Pregnancy β-hCG
Hypothalamic 35% Weight ExerciseStress; illness
Clomiphene test
Ovarian Hot flashes; Surgery/ Trauma/ Inf/ InfiltrationPara-/Thyroid/ Adrenal
Estradiol, FSH+ Auto Ab
PCOS= DM of bearded women with anovulation
30% HyperandrogenismHirsutismWeightAcne
DHEAS; TestosteroneLH:FSHInsulin Resistance (QUICKY)
Sonar
Pituitary 19% LH, FSH; GnRH test
10% Drugs, Hypothyroidism
prolactin MRI
Uterine 5% History of processes that may endometrial scar (Asherman syndrome)
Progestin challengeProgestin + EE challenge
Hystero-scopy
Other 1%•Thyroid disorders Hyperthyroidism Sx TSH
Adrenal (CAH) Hirsutism ACTH test (17OH Progesterone)
•Iatrogenic Contraception
1º Amenorrhoea Case• 16y ♀• No menarche
1º Amenorrhoea: CausesCause Clues Lab investigations Other
Chromosomal •Turner Syndrome
•Gonadal dysgenesis•Mullerian dysgenesis
50%
15%
Turner phenotypeNo 2º sexual
Karyotype 45 X0 FSH46 XX N ♀ Testosterone
Sonar
No uterus
Hypothalamic 20% Weight ExerciseStress; illness
Vaginal•Transverse septum •Imperforate hymen
5% Cyclic pelvic pain
Pituitary 5% Short stature;Visual field
FSH, LH, Prolactin MRI
Adrenal (CAH) 5% Virilization 17OH Progesterone; DHEAS Testosterone; FSH
PCOS HyperandrogenismHirsutism; Weight;Acne
DHEAS; TestosteroneLH:FSHInsulin Resistance (QUICKY)
Sonar
Thyroid Hypothyroidism Sx
TSH
Androgen Insensitivity (Testicular Feminization)
46 XY ♂ Testosterone
Sonar No uterus
Hx and physical exam
Rule out pregnancy
Prolactin/TSH/LH/FSH
TSH
Hypothyroidism
Hyperthyroidism
Prolactin
Evaluate hyperprolactin
-aemia
FSH (>40)
Evaluate ovarian failure
LH/FSH /
Progestin challenge
Withdrawal menses +
Withdrawal menses -
Anovulation – E2 present
Oestrogen-
Progestin challenge
Withdrawal menses +
Withdrawal menses -
Anatomic defect
Anovulation – E2 absent
Hypothalamic/pituitary disease
Evaluate ovarian failure
Anatomic defect
Uterine US
Uterus absent
Uterus presen
t
Karyotype
XY XX
AIS (T)
Testicular
regression T
17-OH-ase deficiency
Mullerian
agenesis
Asherman Outflow
obstruction
Testosterone
Karyotype if <30y
XO, XO mosaic
XX
Premature ovarian failure
if <40y
Galactosaemia
17-OH-ase deficiency
Autoimmune disorder
Infection
Trauma/surgery
Resistant ovary
LH/FSH defects
Abbreviationsβ-hCG β-subunit of human chorionic
gonadotropinCAH Congenital Adrenal HyperplasiaDHEASDehydroepiandrosterone SulphateE2 EstradiolFSH Follicle Stimulating HormoneLH Luteinizing HormonePCOS Polycystic Ovarian Syndrome