What is primary amenorrhea (absence of menstruation)

From the Guidelines

Primary amenorrhea is defined as the absence of menstruation in a female by age 15 years, as stated in the most recent and relevant study 1. This condition differs from secondary amenorrhea, which refers to the cessation of previously established menstrual periods.

Key Points

• Primary amenorrhea can result from various causes including:
  • Chromosomal abnormalities (like Turner syndrome)
  • Anatomical abnormalities of the reproductive tract (such as imperforate hymen or Müllerian agenesis)
  • Hormonal disorders (like hypothalamic amenorrhea, polycystic ovary syndrome, or hyperprolactinemia)
  • Other medical conditions affecting the hypothalamic-pituitary-ovarian axis
• Evaluation typically includes a thorough medical history, physical examination, hormone level testing, and imaging studies to determine the underlying cause
• Treatment depends on the specific diagnosis and may include hormonal therapy, surgical correction of anatomical abnormalities, or addressing underlying medical conditions
• Early diagnosis and appropriate management are important not only for establishing menstruation but also for addressing potential associated health concerns like bone density issues and fertility implications, as highlighted in 1 and 1

Recommendations

• Referral to pediatric endocrinology/gynecology is recommended for any survivor who has primary amenorrhea by age 16 years, as suggested in 1
• Endocrinology and gynecology consultation is recommended for prepubertal females who have no signs of puberty by age 13 years and with elevated FSH levels at laboratory screening, primary amenorrhea by age 16 years in the presence of other evidence of puberty, or who experience a failure to initiate or progress through puberty, as stated in 1

From the Research

Definition of Primary Amenorrhea

• Primary amenorrhea is defined as the absence of menstruation by the age of 16 years in the presence of normal growth and secondary sexual characters or by the age of 14 years in the absence of secondary sexual characters 2.
• It can also be defined as the absence of menarche in ≥ 15-year-old females with developed secondary sexual characteristics and normal growth or in ≥13-year-old females without signs of pubertal development 3.

Causes of Primary Amenorrhea

• The most common causes of primary amenorrhea are Mullerian anomalies, gonadal dysgenesis, and hypothalamic causes 2.
• Other causes include polycystic ovary syndrome, hyperprolactinemia, and pituitary causes 2, 4.
• Genetic and environmental factors can also play a role in the causes of primary amenorrhea 2.

Diagnosis and Management

• A systematic evaluation including a detailed history, physical examination, and laboratory assessment of selected serum hormone levels can usually identify the underlying cause of primary amenorrhea 4.
• Initial workup of primary amenorrhea includes a pregnancy test and serum levels of luteinizing hormone, follicle-stimulating hormone, prolactin, and thyroid-stimulating hormone 4.
• Treatment goals for patients with primary amenorrhea may vary considerably, and depend on the patient and the specific diagnosis 4, 3.