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For further information, see CMDT Part 26-33: Primary Amenorrhea
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Menarche ordinarily occurs between ages 11 and 15 years (average in United States, 12.7 years)
Primary amenorrhea is failure of any menses to appear
Evaluate at age 14 if no menarche or breast development or if height in lowest 3%, or at age 16 if still no menarche
Causes
Hypothalamic-pituitary (low-normal FSH)
Idiopathic delayed puberty
Pituitary tumor
Hypothalamic amenorrhea (eg, stress, weight change, exercise)
Anorexia nervosa
Hypothyroidism
Cushing syndrome
GnRH or gonadotropin deficiency
Hyperandrogenism (low-normal FSH)
Adrenal tumor or adrenal hyperplasia
Polycystic ovary syndrome
Ovarian tumor
Exogenous androgenic steroids
Uterine causes (normal FSH)
Absence of uterus
Imperforate hymen
Ovarian causes (high FSH)
Pseudohermaphroditism
Complete androgen insensitivity syndrome: individuals are born with normal external female genitalia, although some may have labial or inguinal swellings due to cryptorchid testes
Partial androgen insensitivity syndrome: individuals have variable degrees of ambiguous genitalia
Pregnancy (high hCG)
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Nausea, breast engorgement suggest pregnancy
Headaches or visual field abnormalities suggest pituitary tumor
Obesity and short stature suggests Cushing syndrome
Hirsutism and virilization suggest excessive testosterone
Short stature suggests growth hormone or thyroid hormone deficiency
Short stature and gonadal dysgenesis indicate Turner syndrome
Tall stature suggests eunuchoidism or acromegaly
Anosmia suggests Kallmann syndrome
Perform pelvic examination to assess for hymen patency and presence of a uterus
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Serum FSH, LH, prolactin, total and free testosterone, TSH, T4, and pregnancy test
Serum electrolytes
Further hormone evaluation if patient is virilized or hypertensive
MRI of hypothalamus and pituitary is used to evaluate teens with primary amenorrhea and low or normal FSH and LH—especially those with high PRL levels
Pelvic duplex/color sonography is very useful
Karyotyping
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