Primary amenorrhea: diagnosis and management

Area of Science:

• Reproductive endocrinology
• Adolescent medicine
• Gynecology

Background:

• Puberty involves key milestones like thelarche, pubarche, and menarche.
• Primary amenorrhea is defined as the absence of menarche by a certain age.

Purpose of the Study:

• To define primary amenorrhea and explore its diverse etiologies.
• To outline diagnostic workups, associated comorbidities, and treatment strategies.
• To equip generalists to manage primary amenorrhea in adolescents.

Main Methods:

• Literature review of primary amenorrhea causes, diagnosis, and management.
• Synthesis of information on outflow tract obstructions, gonadal dysgenesis, and hypothalamic axis anomalies.
• Focus on practical assessment and initial treatment guidelines for general practitioners.

Main Results:

• Identified numerous causes of primary amenorrhea, categorized by origin (outflow tract, gonadal, hypothalamic).
• Detailed diagnostic pathways and highlighted common comorbidities.
• Summarized current treatment options tailored to specific etiologies.

Conclusions:

• Primary amenorrhea requires a systematic approach to diagnosis and management.
• Understanding the varied causes is crucial for effective treatment.
• This review provides a framework for generalists to confidently assess and manage primary amenorrhea.