Amenorrhea, Primary

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)

  • Turner syndrome

  • Autoimmune ovarian failure

• 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)

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

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

Treatment directed at underlying cause

Hormone replacement therapy for females with permanent hypogonadism

See Amenorrhea, Secondary & Menopause