Updated: 9/28/2022

Primary Amenorrhea

Review Topic
  • Snapshot
    • A 17-year-old female presents to the pediatrician with a concern of not yet beginning menses. Her friends in high school have already begun menses a few years ago, and this brings the patient great distress. She reports being sexually active and uses condomns consistently. She does not use any other form of contraception. She denies pelvic pain. On physical exam, there is normal breast development; however, her uterus is not palpable. This is confirmed by pelvic ultrasound. Karyotype returns as 46, XX and serum testosterone level is appropriate for a female. (Müllerian agenesis)
  • Introduction
    • Absence of menarche by the age of ≥ 15 years
      • with normal secondary sexual characteristics and normal growth
      • or ≥ 13 years with the absence of secondary sexual characteristics
  • Etiology
    • most cases are due to genetic causes or anatomical abnormalities
      • examples include
        • gonadal dysgenesis
          • e.g., Turner syndrome
        • Müllerian agenesis
          • e.g., absent uterus and vagina
        • physiological delay of puberty
        • polycystic ovarian syndrome
        • hypopituitarism
        • androgen insensitivity syndrome
          • complete androgen insensitivity syndrome with 46 XY karyotype, male gonads and external female characterics (breasts, vulva, short vagina, absent cervix/uterus), and no/minimal axillary or pubic hair
      • general principle
        • etiologies can be divided by issues involving the
          • hypothalamus
          • pituitary
          • ovaries
          • uterus
          • vagina
  • Presentation
    • Symptoms
      • absence of menses
    • There are many causes of primary amenorrhea, and depending on the cause, it may affect clinical presentation
      • e.g., patient with Müllerian agenesis may have an absent uterus on physical exam
      • transverse vaginal septa present with normal pubertal development and normal uterus/ovaries
  • Imaging
    • Pelvic ultrasound is needed to determine the presence of a uterus
    • In a patient with primary amenorrhea and an increased FSH, the next step in management is karyotyping
  • Differential
    • Pregnancy
    • Contraceptive use
    • Refer to evaluation
  • Treatment
    • Directed at underlying pathology
      • e.g., vaginal outlet obstruction will require surgical correction
    • Infertility
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(M2.GN.17.4826) A 16-year-old female presents to her primary care physician due to lack of menstruation. She has never had a period and is anxious that she is not “keeping up” with her friends. She states that her breasts began developing when she was 13, and she had a growth spurt around the same time. Review of systems reveals that she has also been getting headaches every few months over the last year with some photosensitivity and nausea each time. Ibuprofen relieves her symptoms. The patient is a competitive ice skater and has never been sexually active. Her mother has a history of migraine headaches, and her older sister has a history of bipolar disorder. Both underwent menarche at age 15. At this visit, the patient’s temperature is 98.6°F (37.0°C), pulse is 70/min, blood pressure is 118/65 mmHg, and respirations are 13/min. Her body mass index is 23.8 kg/m^2. Cardiopulmonary and abdominal exams are unremarkable. Both breasts are Tanner IV with no expressable discharge. Pelvic and axillary hair growth is also Tanner IV. The patient is unable to tolerate a full pelvic exam, but the part of the vaginal canal that is examined is unremarkable. Laboratory studies are ordered and are below:

Na+: 139 mEq/L
K+: 4.1 mEq/L
Cl-: 100 mEq/L
HCO3-: 24 mEq/L
Urea nitrogen: 12 mg/dL
Glucose: 73 mg/dL
Creatinine: 0.9 mg/dL
Ca2+: 9.7 mg/dL
Mg2+: 1.7 mEq/L
AST: 11 U/L
ALT: 11 U/L
Follicle Stimulating Hormone (FSH): 16.2 mIU/mL (4.7-21.5 mIU/ml)
Estrogen: 240 pg/mL (64-357 pg/mL)

Abdominal ultrasound is performed and shows a normal uterus and ovaries. Which of the following is the most likely diagnosis?

QID: 109439

Hypothalamic amenorrhea






Imperforate hymen



Vaginal septum



Normal development



M 6 C

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(M2.GN.17.4731) A 16-year-old female presents to her pediatrician’s office because she has not yet started menstruating. On review of systems, she states that she has been increasingly tired, constipated, and cold over the last 6 months. She also endorses a long history of migraines with aura that have increased in frequency over the last year. She complains that these symptoms have affected her performance on the track team. She states that she is not sexually active. Her mother and sister both underwent menarche at age 15. The patient is 5 feet, 4 inches tall and weighs 100 pounds (BMI 17.2 kg/m^2). Temperature is 98.4°F (36.9°C), blood pressure is 98/59 mmHg, pulse is 98/min, and respirations are 14/min. On exam, the patient appears pale and has thinning hair. She has Tanner stage IV breasts and Tanner stage III pubic hair. Which of the following would be most useful in determining this patient’s diagnosis?

QID: 108597

Pelvic exam



Prolactin level



TSH level



GnRH level



FSH and estrogen levels



M 6 D

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