Amenorrea primaria funzionale: epidemiologia, diagnosi e trattamento

The menstrual cycle is an important indicator of female health, reflecting the hormonal and metabolic balance of a woman. Primary amenorrhea, characterised by the absence of menarche in girls over the age of 15 with signs of pubertal development, or at 13 years without signs of pubertal development, can arise from various causes, including hormonal disorders, genetic causes, utero-vaginal anomalies, and functional causes. Functional hypothalamic amenorrhea (FHA) is frequently associated with low energy availability (LEA), often caused by eating disorders or excessive physical activity. During puberty, the pulsatile release of GnRH from the hypothalamus stimulates the production of LH and FSH from the pituitary gland, promoting sexual maturation and menarche. However, in patients with FHA, the pulsatile secretion of GnRH is suppressed due to LEA, leading to hypoestrogenism and amenorrhea. Leptin, produced by adipose tissue, plays a key role in regulating the hypothalamic-pituitary-gonadal axis, and reduced leptin levels may contribute to GnRH suppression. The epidemiology of functional primary amenorrhea reflects a variable prevalence, with a higher incidence observed in patients with eating disorders such as anorexia nervosa. Adolescent athletes, especially those involved in sports that emphasise leanness, are at an increased risk of developing FHA. However, the diagnosis of FHA requires careful exclusion of other causes of primary amenorrhea through blood tests and thorough clinical and psychological evaluation. The treatment of functional primary amenorrhea focuses on restoring the hypothalamic-pituitary-ovarian axis through promoting behavioural changes and correcting energy imbalance. Involvement of a multidisciplinary team is essential for effective management. In conclusion, a thorough understanding of the pathophysiology, epidemiology, and management of functional primary amenorrhea is crucial to ensure appropriate treatment and improve the reproductive health and overall well-being of affected patients. Further research is needed to refine diagnostic and therapeutic strategies and to develop targeted preventive interventions.