Diagnosis typically involves a combination of clinical evaluation, hormonal assessments, and genetic testing. A gynecologist may suspect ovarian dysgenesis in a patient presenting with delayed puberty or amenorrhea. Blood tests may reveal elevated FSH and LH levels, indicating hypergonadotropic hypogonadism. Genetic testing, including karyotyping, is crucial to identify chromosomal anomalies such as Turner syndrome or specific gene mutations associated with the condition.
