The constellation of uterovaginal aplasia, renal anomalies, and endocrine dysfunction raises clinical suspicion of an expanded phenotypic spectrum or a potential overlap syndrome, such as Müllerian duct aplasia, renal dysplasia, and cervicothoracic somite anomalies (Reference ranges: FSH: 3-10 mIU/mL in follicular phase; TSH: 0.4-4.0 μIU/mL).<h4>Conclusion</h4>This case highlights the importance of comprehensive systemic evaluation in patients with MRKH syndrome, especially when extragenital anomalies or metabolic abnormalities such as diabetes mellitus coexist. The gene discussed is BRD2; the disease is overlapping connective tissue disease.