ReviewInternational journal of molecular sciences2021
Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.
Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Differences in sex development among individuals with a female phenotype and an absent uterus: Diagnostic approach.The Journal of international medical research · 2026Article
- Mayer-Rokitansky-Küster-Hauser syndrome type II. Case report.JBRA assisted reproduction · 2025Article
- Unraveling the etiology of primary amenorrhea: Insights from a tertiary care center in Peshawar, Pakistan.Pakistan journal of medical sciences · 2025Article
- Bilateral Ovarian Agenesis and Bone Modeling Disease in Pre-puberty Girl With Primary Amenorrhea.Cureus · 2024Article
- Comprehensive management of Mayer-Rokitansky-Küster-Hauser syndrome management: A case report.Narra J · 2024Article
- Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report.Frontiers in endocrinology · 2022Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.