Acute Stanford type A aortic dissection (ATAAD) is a life-threatening disease. Elderly patients are the high-risk population for aortic dissection (AD). Young patients with AD usually have heritable connective tissue diseases such as Marfan syndrome and Loeys-Dietz syndrome. However, young AD patients without heritable connective tissue disease are relatively rare.
Herein, we report a case of a 25-year-old female diagnosed with ATAAD accompanied by undeveloped secondary sexual characteristics. Computed tomography angiography (CTA) showed that her AD involved the ascending and abdominal aorta. She had undergone thoracic endovascular aortic stent graft implantation in a local hospital due to acute Stanford type B aortic dissection at age 19. No uterus or ovaries were found on CTA and transabdominal ultrasonography. Sex hormone detection revealed a low estrogen level. G-banded karyotyping analyses revealed a normal 46,XX karyotype. Finally, her abnormalities in the reproductive system were diagnosed as MRKH syndrome and 46,XX gonadal dysgenesis. Whole-exome sequencing (WES) in the patient found an SNP variant of
To our knowledge, we report the world's first case of early-onset recurrent AD combined with MRKH syndrome and 46,XX gonadal dysgenesis.