Amenorrhea: Primary

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Chapter 161 Amenorrhea: Primary

INTRODUCTION

Description: Primary amenorrhea is the absence of normal menstruation in a patient without previously established cycles.
Prevalence: Uncommon.
Predominant Age: Mid to late teens.
Genetics: One third caused by chromosomal abnormalities such as 45,XO, 46,XY gonadal dysgenesis, or 46,XX q5 X long-arm deletion.

ETIOLOGY AND PATHOGENESIS

Causes: Gonadal abnormalities (failure, 60% of patients)—autoimmune ovarian failure (Blizzard syndrome), gonadal dysgenesis, pure gonadal dysgenesis, 45,XO (Turner’s syndrome), 46,XY gonadal dysgenesis (Swyer syndrome), 46,XX q5 X chromosome long-arm deletion, mixed or mosaic, follicular depletion, autoimmune disease, infection (e.g., mumps), infiltrative disease processes (e.g., tuberculosis, galactosemia), iatrogenic ovarian failure (e.g., alkylating chemotherapy, irradiation), ovarian insensitivity syndrome (resistant ovary [Savage’s] syndrome), 17α-hydroxylase deficiency, chronic anovulation of pubertal onset. Extragonadal anomalies (40%)—congenital absence of uterus and vagina (15%) (Müllerian agenesis), constitutional delay, imperforate hymen, male pseudohermaphroditism (testicular feminization syndrome), pituitary–hypothalamic dysfunction, transverse vaginal septum.
Risk Factors: None known.

CLINICAL CHARACTERISTICS

Signs and Symptoms

• No period by age 14 with no secondary sex changes
• No period by age 16 regardless of secondary sex changes
• No period by 2 years after the start of secondary sex changes

Evaluation should not be delayed any time there is the suggestion of a chromosomal abnormality or an obstructed genital tract.

DIAGNOSTIC APPROACH

Differential Diagnosis

• Pregnancy before first cycle
• Obstructed outflow tract (making menstruation cryptic)
• Gonadal dysgenesis
• Uterine agenesis
• Androgen insensitivity syndrome
• Mayer-Rokitansky-Küster-Hauser syndrome

Associated Conditions: Infertility, abnormal stature (short or tall), and cardiac changes in some congenital syndromes; hypertension and hypokalemic alkalosis in 17α-hydroxylase deficiency, virilization, or hirsutism; and cyclic pelvic pain with outflow obstruction. Renal and skeletal abnormalities may also occur. Prolonged amenorrhea is associated with an increased risk of osteoporosis.

Workup and Evaluation

Laboratory: The development of sexual hair or breasts provides an outward sign of androgen and estrogen production, respectively.
Imaging: Based on conditions being considered.
Special Tests: Based on conditions being considered.
Diagnostic Procedures: Laparoscopy to evaluate internal organs and gonads may be required.

Pathologic Findings

None.

MANAGEMENT AND THERAPY

Nonpharmacologic

General Measures: Determination of underlying cause(s).
Specific Measures: Based on the diagnosis and specific needs of the patient.
Diet: No specific dietary changes indicated.
Activity: No restriction.
Patient Education: Reassurance; American College of Obstetricians and Gynecologists Patient Education Pamphlet AP049 (Menstruation [Especially for Teens]) or AP041 (Growing Up [Especially for Teens]).

Drug(s) of Choice

Based on underlying cause. Hormone replacement may be required or desirable for many patients.

FOLLOW-UP

Patient Monitoring: Normal health maintenance.
Prevention/Avoidance: None.
Possible Complications: Risk of gonadal malignancy is increased if a Y chromosome is present. Risk of osteoporosis is present if the patient is hypoestrogenic and does not receive replacement therapy. Extensive damage to the upper tract may occur if obstruction is not corrected.
Expected Outcome: Menstruation and fertility may be restored for many of these patients if there are no structural or chromosomal conditions that preclude the possibility (uterine agenesis, androgen insensitivity syndrome, gonadal dysgenesis).

MISCELLANEOUS

Pregnancy Considerations: Infertility common. If pregnancy is achieved, there are no effects except those imposed by underlying cause.
ICD-9-CM Codes: 626.0.

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REFERENCES

Level III

American Academy of Pediatrics, American College of Obstetricians and Gynecologists. Menstruation in girls and adolescents: using the menstrual cycle as a vital sign. ACOG Committee Opinion 349. Obstet Gynecol. 2006;108:1323.

American College of Obstetricians and Gynecologists. Vaginal agenesis: diagnosis, management, and routine care. ACOG Committee Opinion 355. Obstet Gynecol. 2006;108:1605.

Lobo RA. Primary and secondary amenorrhea and precocious puberty. In: Katz VL, Lentz GM, Lobo RA, Gershenson DM, editors. Comprehensive Gynecology. 5th ed. Philadelphia: Mosby/Elsevier; 2007:937.

Master-Hunter T, Heiman DL. Amenorrhea: evaluation and treatment. Am Fam Physician. 2006;73:1374.

Pletcher JR, Slap GB. Menstrual disorders. Amenorrhea. Pediatr Clin North Am. 1999;46:505.

van Niekerk WA. Chromosomes and the gynecologist. Am J Obstet Gynecol. 1978;130:862.

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