Approach to the pediatric patient with primary and secondary amenorrhea

Abstract

The normal progression of pubertal development and the establishment of menstrual cycles are key indicators of overall health. Clinical evaluation is indicated in girls who do not develop breast tissue by the age of 13 or do not experience menarche by the age of 15 (primary amenorrhea), those who have abnormal pubertal progression, or develop secondary amenorrhea (defined as the absence of menstrual bleeding for more than three months if previous cycles were regular, or more than six months in those with irregular cycles). Both primary and secondary amenorrhea may result from a variety of congenital or acquired pathological conditions. Initial assessment includes a thorough medical history, physical examination, and laboratory investigations aimed at excluding other chronic diseases and differentiating between hypogonadotropic and hypergonadotropic hypogonadism. Further diagnostic workup may involve radiological, gynecological, and genetic evaluations, depending on the clinical context. Pharmacological management of hypogonadism most commonly involves combined hormone replacement therapy with estrogen and progesterone. Hormone replacement therapy stimulates the development of secondary sexual characteristics and regular menstrual cycles. Such treatment is also essential during puberty for linear growth enhancement and bone mineralization, while later in life, it contributes to the prevention of cardiovascular disease and osteoporosis, and provides neuroprotective benefits. Certain underlying conditions require specific medical or surgical interventions. Early identification of pathological conditions leading to primary or secondary amenorrhea is crucial for preserving reproductive health and enables targeted screening and management of associated comorbidities.