Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight

Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not excl...

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Autores principales:	Karina Kapczuk, Witold Kędzia
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	primary amenorrhea congenital absence of uterus and vagina Müllerian aplasia MRKH syndrome DSD Biology (General) QH301-705.5 Chemistry QD1-999
Acceso en línea:	https://doaj.org/article/a2dee1d76c104321881842c8038a31c5
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spelling	oai:doaj.org-article:a2dee1d76c104321881842c8038a31c52021-11-11T16:57:33ZPrimary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight10.3390/ijms2221114951422-00671661-6596https://doaj.org/article/a2dee1d76c104321881842c8038a31c52021-10-01T00:00:00Zhttps://www.mdpi.com/1422-0067/22/21/11495https://doaj.org/toc/1661-6596https://doaj.org/toc/1422-0067Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not exclude the diagnosis of MRKHS. Familial cases of Müllerian anomalies and associated malformations of the urinary and skeletal systems strongly suggest a complex genetic etiology, but so far, the molecular mechanism in the vast majority of cases remains unknown. Primary amenorrhea may also be the first presentation of complete androgen insensitivity syndrome, steroid 5α-reductase type 2 deficiency, 17β-hydroxysteroid dehydrogenase type 3 deficiency, and Leydig cells hypoplasia type 1; therefore, these disorders should be considered in the differential diagnosis of the congenital absence of the uterus and vagina. The molecular diagnosis in the majority of these cases can be established.Karina KapczukWitold KędziaMDPI AGarticleprimary amenorrheacongenital absence of uterus and vaginaMüllerian aplasiaMRKH syndromeDSDBiology (General)QH301-705.5ChemistryQD1-999ENInternational Journal of Molecular Sciences, Vol 22, Iss 11495, p 11495 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	primary amenorrhea congenital absence of uterus and vagina Müllerian aplasia MRKH syndrome DSD Biology (General) QH301-705.5 Chemistry QD1-999
spellingShingle	primary amenorrhea congenital absence of uterus and vagina Müllerian aplasia MRKH syndrome DSD Biology (General) QH301-705.5 Chemistry QD1-999 Karina Kapczuk Witold Kędzia Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight
description	Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not exclude the diagnosis of MRKHS. Familial cases of Müllerian anomalies and associated malformations of the urinary and skeletal systems strongly suggest a complex genetic etiology, but so far, the molecular mechanism in the vast majority of cases remains unknown. Primary amenorrhea may also be the first presentation of complete androgen insensitivity syndrome, steroid 5α-reductase type 2 deficiency, 17β-hydroxysteroid dehydrogenase type 3 deficiency, and Leydig cells hypoplasia type 1; therefore, these disorders should be considered in the differential diagnosis of the congenital absence of the uterus and vagina. The molecular diagnosis in the majority of these cases can be established.
format	article
author	Karina Kapczuk Witold Kędzia
author_facet	Karina Kapczuk Witold Kędzia
author_sort	Karina Kapczuk
title	Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight
title_short	Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight
title_full	Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight
title_fullStr	Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight
title_full_unstemmed	Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight
title_sort	primary amenorrhea due to anatomical abnormalities of the reproductive tract: molecular insight
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/a2dee1d76c104321881842c8038a31c5
work_keys_str_mv	AT karinakapczuk primaryamenorrheaduetoanatomicalabnormalitiesofthereproductivetractmolecularinsight AT witoldkedzia primaryamenorrheaduetoanatomicalabnormalitiesofthereproductivetractmolecularinsight
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Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight

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