Résumé
Primary amenorrhea (PA), which occurs in 1–5% of girls, describes complete absence of menses, and it is a devastating diagnosis that can affect an adolescent’s view of her feminity, sexuality, fertility, and self-image. Assessment of adolescent patients requires a sensitive, age-appropriated approach, considering the emotional maturity of the adolescent distress. PA in adolescence is likely to require a multidisciplinary team including that of a pediatric endocrinologist, a gynecologist, a surgeon, a clinical psychologist, and a fertility team. Although pubertal menstrual disorders, such as oligomenorrhea and dysfunctional uterine bleeding, commonly occur within the 2 years after menarche, prolonged amenorrhea beyond 14 years is not normal and needs management. PA is a risk factor for early and late consequences, according to the degree of estrogenization. In estrogen-repleted adolescents, it constitutes a risk for hyperplasia of the endometrium, responsible for dysfunctional uterine bleeding and, later, a risk for endometrial cancer and breast cancer. Conversely, in estrogen-deficient adolescents, reduction of bone mineral density, lifelong risk of fractures, and cardiovascular risk are increased in this condition. According to our experience, management of PA should start in four conditions: (1) adolescent who has not had menarche by age 14 years; (2) adolescent who has not had menarche and more than 3 years have elapsed since thelarche; (3) adolescent who has not had a menarche by age 13 years and no secondary sexual development; and (4) adolescent who has not had menarche by age 14 years and there is a suspicion of an eating disorder or excessive exercise, or there are signs of hyperandrogenism, or there is evidence of a failure to thrive.
Diagnosis can be oriented with the aid of history, physical examination, imaging studies, hormonal evaluation, and karyotyping. Evaluation of PA begins with a thorough medical history, general health, and lifestyles, to identify chronic illness and exposure to radiations or chemotherapy during infancy. Any history of galactorrhea, headache, and cyclic abdominal pain may be indicative. Physical examination includes height and weight and BMI. Breast Tanner staging is a good marker of the degree of estrogenization. A scrupulous examination of the external genitalia should be conducted, along with a normal cervix. Imaging studies routinely include pelvic ultrasonography to confirm the presence of ovaries and the uterus. Initial hormonal evaluation is limited to the serum FSH (and LH), testosterone, and prolactin levels. A karyotype should be conducted in all adolescents with high FSH serum levels. At the end of this evaluation, the causes of PA are considered to be related to (1) endocrine defects within the hypothalamic-pituitary-ovarian axis; (2) genetic defects of the ovary; (3) metabolic diseases; (4) autoimmune diseases; (5) infections; (6) iatrogenic causes (radiotherapy, chemotherapy); (7) Mullerian defects; and (8) environmental or idiopathic factors.
The overall goal of estrogen replacement therapy in girls with hypogonadism is to start the development and maturation of secondary sexual characteristics and uterine growth and ensure normal growth velocity and optimal bone mass acquisition as well as to reduce the psychological consequences. In conclusion, primary amenorrhea can be due to endocrine, genetic, metabolic, anatomical, and environmental disorders that may have severe implications for reproductive disturbances later in life.