Laboratory evaluation of amenorrhoea

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Laboratory evaluation of amenorrhoea

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

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Amenorrhoea

• Primary (1º)
• no menarche by 16y
• Secondary (2º)
• cessation of established menstruation gt3-6 months
• Trend of earlier onset of menarche workup for
  amenorrhoea at 15y

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2º Amenorrhoea Case 1

• 32y ?
• LNM 3m ago

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2º Amenorrhoea Causes
Cause Clues Lab investigations Other
Pregnancy ? ß-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 LHFSH 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
Other 1
Thyroid disorders Hyperthyroidism Sx ?TSH
Adrenal (CAH) Hirsutism ACTH test (17OH Progesterone)
Iatrogenic Contraception
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1º Amenorrhoea Case

• 16y ?
• No menarche

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1º Amenorrhoea Causes
Cause Clues Lab investigations Other
Chromosomal Turner Syndrome Gonadal dysgenesis Mullerian dysgenesis 50 15 Turner phenotype No 2º sexual Karyotype 45 X0 ?FSH 46 XX N ? Testosterone Sonar No uterus
Hypothalamic 20 ?Weight ? Exercise Stress 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 5 Hyperandrogenism Hirsutism ?Weight Acne ? DHEAS? Testosterone LHFSH Insulin Resistance (QUICKY) Sonar
Thyroid 5 Hypothyroidism Sx ?TSH
Androgen Insensitivity (Testicular Feminization) 5 46 XY ? Testosterone Sonar No uterus
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Hx and physical exam Rule out pregnancy Prolactin/
TSH/LH/FSH
TSH
?Prolactin
?FSH (gt40)
LH/FSH ?/?
Hypothyroidism Hyperthyroidism
Evaluate hyperprolactin-aemia
Evaluate ovarian failure
Progestin challenge
Withdrawal menses
Withdrawal menses -
Anovulation E2 present
Oestrogen-Progestin challenge
Withdrawal menses
Withdrawal menses -
Anatomic defect
Anovulation E2 absent
Hypothalamic/pituitary disease
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Evaluate ovarian failure
Anatomic defect
Uterine US
Karyotype if lt30y
Uterus absent
Uterus present
XO, XO mosaic
XX
Karyotype
Premature ovarian failure if lt40y
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
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Abbreviations

• ß-hCG ß-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