Gonadal Disease

Gonadal disease refers to a group of disorders affecting the gonads, leading to abnormal sex hormone synthesis or action, with clinical manifestations including ambiguous genitalia, delayed puberty, infertility, erectile dysfunction, hypogonadism, and sexual dysfunction. These conditions may result from genetic mutations, hormonal imbalances, environmental factors, infections, or underlying medical issues, and are often associated with gonadal dysgenesis—a congenital disorder characterized by fibrous stromal replacement of gonadal tissue without germ cells. Diagnosis involves genetic testing, hormonal assessments, and imaging to evaluate reproductive function and related comorbidities.