Genetic aspects of hirsutism

Abstract

Introduction. Hirsutism is the exaggerated increase of terminal hair in women, developing a male model. Hirsutism is an important medical problem, not just a cosmetic defect, which currently affects about 5-15% of women. The researchers have shown that the impact of hirsutism symptoms on a woman's quality of life can be profound and can lead to psychological stress that threatens her feminine identity. Despite a large number of published works, some aspects of hirsutism are still controversial or underestimated. The treatment of hirsutism often requires a multidisciplinary approach and a variety of physical or pharmacological modalities can be used with the combination of 2 or more drugs in combination with esthetic treatment, depending on the involved etiopathogenetic mechanism. Aim of the study. Evaluation of the molecular-genetic bases of hirsutism, the study of clinical polymorphism and the management of women with hirsutism. Materials and methods. Online databases, meta-analyzes, scientific papers in theoretical and practical medicine were used. Results. Following the analyses of the scientific papers we highlighted the main etiological factors of hirsutism: ovarian (93% PCOS, <1% androgendependent tumors, <1% luteoma); adrenals (<1% CAH, <1% Cushing syndrome, <1% androgen secretory tumors, 1% acromegaly) and other external factors (<1% iatrogenic, <1% androgenic drugs). The genetic approach has noted the involvement in the development of hirsutism of mutations in 5 major genes encoding important enzymes in androgen metabolism: 21-hydroxylase, P450 cytochrome oxidoreductase, aromatase, 11-beta-hydroxylase, 5 alpha reductase. The diagnosis of hirsutism is based on a detailed anamnesis, the objective exam using the Ferriman-Galway scale, seric markers, additional genetic and paraclinical tests. Ovarian suppression of androgens secretion with oral contraceptives is widely used in these women, but its efficacy is limited. One of the most effective medical therapies for hirsutism is medication with anti-androgens (spironolactone, finasteride, flutamide, etc.) Conclusions. Hirsutism is a current medical problem that affects women's quality of life. PCOS (polycystic ovary syndrome) is the most common cause of hirsutism. The management of a woman with hirsutism requires a multidisciplinary approach - family doctor, endocrinologist, gynecologist, dermatologist. The treatment is indicated according to the ethiopathological, individualized mechanism, treatment strategies can be included with the combination of 2 or more drugs. Aesthetic and maintenance treatment is not excluded.