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

Kapczuk, Karina ; Kędzia, Witold

International journal of molecular sciences, 2021-10, Vol.22 (21), p.11495 [Periódico revisado por pares]

Switzerland: MDPI AG

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Título:
Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight
Autor: Kapczuk, Karina ; Kędzia, Witold
Assuntos: 17-Hydroxysteroid Dehydrogenases - deficiency ; 17-Hydroxysteroid Dehydrogenases - genetics ; 46, XX Disorders of Sex Development - pathology ; Abnormalities ; Amenorrhea ; Amenorrhea - genetics ; Amenorrhea - pathology ; Androgen-Insensitivity Syndrome - genetics ; Androgen-Insensitivity Syndrome - pathology ; Androgens ; Aplasia ; Cervix ; Cervix Uteri - abnormalities ; Cervix Uteri - embryology ; Cholestenone 5 alpha-Reductase - deficiency ; Cholestenone 5 alpha-Reductase - genetics ; Chromosomes ; Congenital Abnormalities - diagnosis ; Congenital Abnormalities - pathology ; congenital absence of uterus and vagina ; Congenital anomalies ; Congenital defects ; Congenital diseases ; Diagnosis ; Differential diagnosis ; Disorder of Sex Development, 46,XY - genetics ; Disorder of Sex Development, 46,XY - pathology ; DSD ; Etiology ; Fallopian tubes ; Female ; Females ; Genes ; Humans ; Hydroxysteroids ; Hypoplasia ; Karyotypes ; Leydig cells ; Male ; MRKH syndrome ; Mullerian Ducts - abnormalities ; Mullerian Ducts - pathology ; Mutation ; Müllerian aplasia ; primary amenorrhea ; Reductases ; Reproductive system ; Review ; Sinuses ; Testis - abnormalities ; Testis - pathology ; Thrombocytopenia ; Uterus ; Vagina ; Vagina - abnormalities ; Vagina - embryology
É parte de: International journal of molecular sciences, 2021-10, Vol.22 (21), p.11495
Notas: ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
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ObjectType-Review-1
Descrição: 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.
Editor: Switzerland: MDPI AG
Idioma: Inglês

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

Kapczuk, Karina ; Kędzia, Witold

Switzerland: MDPI AG

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