Pediatria pre prax 2/2026
Diagnostic procedure of primary amenorrhea
Primary amenorrhea is the failure to reach menarche (i.e., the first menstrual cycle) in girl by a certain age. In paediatric practice, these are symptoms that may indicate puberty disorders, genetic disease, primary ovarian failure, anatomical developmental disorder of the external genitalia, disorders of hypothalamic-pituitary regulation or chronic systemic diseases. Examination is indicated in the absence of period by the age of 15 with the presence of secondary sexual characteristics, in the absence of breast development by the age of 13 or earlier in the presence of cyclical pelvic pain, virilization or neurological symptoms. The practical diagnostic procedure should be simple: confirm that it is primary amenorrhea, assess growth and stage of pubertal development, determine the presence of ultrasound and determine FSH, LH, estradiol, TSH and prolactin. Three basic information – breast development, presence of uterus, and FSH value – they will usually allow to establish the correct diagnostic group and decide on the urgency of referral to a pediatric endocrinologist, gynecologist, or geneticist.
Keywords: primary amenorrhea, delayed puberty, Tanner classification, Turner syndrome, Müllerian duct agenesis, hypogonadism, adolescence
