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Laboratory evaluation of amenorrhoea

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1 Laboratory evaluation of amenorrhoea
Modified by Dr R de Villiers (2007) Dr N Oosthuizen (2006) Dept of Chemical Pathology - UP Block 11 Laboratory evaluation of amenorrhoea

2 Amenorrhoea Primary (1º) Secondary (2º)
no menarche by 16y Secondary (2º) cessation of established menstruation >3-6 months Trend of earlier onset of menarche – workup for amenorrhoea at 15y

3 2º Amenorrhoea Case 1 32y ♀ LNM 3m ago

4 2º Amenorrhoea: Causes Cause Lab investigations Other Pregnancy
Clues Lab investigations Other Pregnancy  β-hCG Hypothalamic 35% Weight  Exercise Stress; illness Clomiphene test Ovarian Hot flashes; Surgery/ Trauma/ Inf/ Infiltration Para-/Thyroid/ Adrenal Estradiol,  FSH + Auto Ab PCOS = DM of bearded women with anovulation 30% Hyperandrogenism Hirsutism Weight Acne  DHEAS; Testosterone LH:FSH Insulin 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 challenge Progestin + EE challenge Hystero-scopy 1% Thyroid disorders Hyperthyroidism Sx TSH Adrenal (CAH) ACTH test (17OH Progesterone) Iatrogenic Contraception

5 1º Amenorrhoea Case 16y ♀ No menarche

6 1º Amenorrhoea: Causes Cause Lab investigations Other
Clues Lab investigations Other Chromosomal Turner Syndrome Gonadal dysgenesis Mullerian dysgenesis 50% 15% Turner phenotype No 2º sexual Karyotype 45 X FSH 46 XX N ♀ Testosterone Sonar No uterus Hypothalamic 20% Weight  Exercise Stress; illness Vaginal Transverse septum Imperforate hymen 5% Cyclic pelvic pain Pituitary Short stature; Visual field  FSH, LH,  Prolactin MRI Adrenal (CAH) Virilization 17OH Progesterone;  DHEAS  Testosterone; FSH PCOS Hyperandrogenism Hirsutism; Weight; Acne  DHEAS; Testosterone LH:FSH Insulin Resistance (QUICKY) Thyroid Hypothyroidism Sx TSH Androgen Insensitivity (Testicular Feminization) 46 XY ♂ Testosterone

7 Prolactin/TSH/LH/FSH
Hx and physical exam Rule out pregnancy Prolactin/TSH/LH/FSH TSH Prolactin LH/FSH / FSH (>40) Hypothyroidism Hyperthyroidism Evaluate hyperprolactin-aemia Progestin challenge Evaluate ovarian failure Withdrawal menses + Withdrawal menses - Anovulation – E2 present Oestrogen-Progestin challenge Withdrawal menses + Withdrawal menses - Anovulation – E2 absent Anatomic defect Hypothalamic/pituitary disease

8 Evaluate ovarian failure Anatomic defect
Karyotype if <30y Uterine US Uterus absent Uterus present XO, XO mosaic XX Karyotype Premature ovarian failure if <40y XY XX Galactosaemia 17-OH-ase deficiency Autoimmune disorder Infection Trauma/surgery Resistant ovary LH/FSH defects Testosterone AIS (T) Testicular regression T 17-OH-ase deficiency Mullerian agenesis Asherman Outflow obstruction

9 Abbreviations β-hCG β-subunit of human chorionic gonadotropin
CAH Congenital Adrenal Hyperplasia DHEAS Dehydroepiandrosterone Sulphate E2 Estradiol FSH Follicle Stimulating Hormone LH Luteinizing Hormone PCOS Polycystic Ovarian Syndrome


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