Volume 7, Issue 4 (Autumn 2021)
Caspian J Neurol Sci 2021, 7(4): 236-243 |
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Shahin Koohmanaee1 
, Amirhossein Tamimi2 , Soroush Ahmadimacciani2 , Atena Tamimi3 , Vahid Aminzadeh1 , Marjaneh Zarkesh1 , Seyyedeh Azadeh Hoseini Nouri1 , Fatemeh Rajaeipoor1 , Manijeh Tabrizi1 , Setila Dalili *4
, Amirhossein Tamimi2 , Soroush Ahmadimacciani2 , Atena Tamimi3 , Vahid Aminzadeh1 , Marjaneh Zarkesh1 , Seyyedeh Azadeh Hoseini Nouri1 , Fatemeh Rajaeipoor1 , Manijeh Tabrizi1 , Setila Dalili *4
1- Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
2- Student Research Committee, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
3- Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
4- Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran. ,setiladalili1346@yahoo.com
2- Student Research Committee, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
3- Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
4- Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran. ,
Abstract: (2872 Views)
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.
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.
Type of Study: case report |
Subject:
Special
Received: 2021/07/7 | Accepted: 2021/08/29 | Published: 2021/10/1
Received: 2021/07/7 | Accepted: 2021/08/29 | Published: 2021/10/1
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