The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant

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 sear...

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Autores principales:	Shahin Koohmanaee, Amirhossein Tamimi, Soroush Ahmadimacciani, Atena Tamimi, Vahid Aminzadeh, Marjaneh Zarkesh, Seyyedeh Azadeh Hoseini Nouri, Fatemeh Rajaeipoor, Manijeh Tabrizi, Setila Dalili
Formato:	article
Lenguaje:	EN
Publicado:	Guilan University of Medical Sciences 2021
Materias:	dandy-walker variant gonadal dysgenesis mullerian aplasia Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/19c98e37393143cd851b981b389bcd95
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spelling	oai:doaj.org-article:19c98e37393143cd851b981b389bcd952021-11-23T13:03:28ZThe Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant10.32598/CJNS.7.27.32423-4818https://doaj.org/article/19c98e37393143cd851b981b389bcd952021-10-01T00:00:00Zhttps://cjns.gums.ac.ir/article-1-470-en.htmlhttps://doaj.org/toc/2423-4818Background: 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.Shahin KoohmanaeeAmirhossein Tamimi Soroush Ahmadimacciani Atena TamimiVahid AminzadehMarjaneh Zarkesh Seyyedeh Azadeh Hoseini NouriFatemeh RajaeipoorManijeh TabriziSetila DaliliGuilan University of Medical Sciencesarticledandy-walker variantgonadal dysgenesismullerian aplasiaNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENCaspian Journal of Neurological Sciences, Vol 7, Iss 4, Pp 236-243 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	dandy-walker variant gonadal dysgenesis mullerian aplasia Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	dandy-walker variant gonadal dysgenesis mullerian aplasia Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Shahin Koohmanaee Amirhossein Tamimi Soroush Ahmadimacciani Atena Tamimi Vahid Aminzadeh Marjaneh Zarkesh Seyyedeh Azadeh Hoseini Nouri Fatemeh Rajaeipoor Manijeh Tabrizi Setila Dalili The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant
description	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.
format	article
author	Shahin Koohmanaee Amirhossein Tamimi Soroush Ahmadimacciani Atena Tamimi Vahid Aminzadeh Marjaneh Zarkesh Seyyedeh Azadeh Hoseini Nouri Fatemeh Rajaeipoor Manijeh Tabrizi Setila Dalili
author_facet	Shahin Koohmanaee Amirhossein Tamimi Soroush Ahmadimacciani Atena Tamimi Vahid Aminzadeh Marjaneh Zarkesh Seyyedeh Azadeh Hoseini Nouri Fatemeh Rajaeipoor Manijeh Tabrizi Setila Dalili
author_sort	Shahin Koohmanaee
title	The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant
title_short	The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant
title_full	The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant
title_fullStr	The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant
title_full_unstemmed	The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant
title_sort	coexistence of gonadal dysgenesis with mayer-rokitansky-küster-hauser syndrome, and dandy-walker variant
publisher	Guilan University of Medical Sciences
publishDate	2021
url	https://doaj.org/article/19c98e37393143cd851b981b389bcd95
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The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant

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