| چکیده انگلیسی مقاله |
Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still quite infrequent. To the extent that authors searched, just one study reported the association between Rokitansky sequence and Dandy-Walker malformation. Clinical Presentation and Intervention: We aimed to report a case with gonadal dysgenesis, MRKH, and the Dandy-Walker variant. In this care report, the authors reported a 15-year-old girl with primary amenorrhea and underdeveloped secondary sexual properties. Her karyotype was 46, XX. The abdominopelvic MRI without contrast demonstrated bilateral ovarian agenesis and no uterus or cervix. Vagina was normal in length. Brain MRI was consistent with the Dandy-Walker variant. Conclusion: Although some affected chromosomal regions have been identified, further genetic analyses should be performed to elucidate the probable association between these anomalies. |
| نویسندگان مقاله |
| Shahin Koohmanaee
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
| Amirhossein Tamimi
Student Research Committee, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
| Soroush Ahmadimacciani
Student Research Committee, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
| Atena Tamimi
Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
| Vahid Aminzadeh
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
| Marjaneh Zarkesh
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
| Seyyedeh Azadeh Hoseini Nouri
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
| Fatemeh Rajaeipoor
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
| Manijeh Tabrizi
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
| Setila Dalili
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
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