Genetics of the female reproductive ducts

Simpson, Joe Leigh

doi:10.1002/(sici)1096-8628(19991229)89:4<224::aid-ajmg7>3.0.co;2-c

Cited by 99 publications

(87 citation statements)

References 122 publications

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“…Rostrally, the Mullerian ducts form fallopian tubes. Any disturbance in the migration, fusion or resorption of these ducts can cause a Mullerian anomaly [4].…”

Section: Introductionmentioning

confidence: 99%

Septate uterus with left fallopian tube hypoplasia and ipsilateral ovarian agenesis

Suh

Kalan

2008

J Assist Reprod Genet

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Objective To report a combined genital tract anomaly of septate uterus, unilateral fallopian tube hypoplasia, and ipsilateral ovarian agenesis. Design Case report. Setting Academic tertiary care center. Patient A 24-year-old female. Intervention(s) History and physical, pelvic sonogram, hysterosalpingogram, intravenous pyelogram, abdominal and pelvic magnetic resonance imaging, diagnostic laparoscopy, exploratory laparotomy, cuff neosalpingostomy, and uterine septum resection. Main Outcome Measure(s) Recognition of three independent and rare reproductive tract anomalies in the same patient. Result(s) Restoration of anatomy and subsequent fertility. Conclusion(s) A careful clinical evaluation with consideration of embryologic origin is essential to the identification and treatment of rare reproductive tract malformations.

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“…Rostrally, the Mullerian ducts form fallopian tubes. Any disturbance in the migration, fusion or resorption of these ducts can cause a Mullerian anomaly [4].…”

Section: Introductionmentioning

confidence: 99%

Septate uterus with left fallopian tube hypoplasia and ipsilateral ovarian agenesis

Suh

Kalan

2008

J Assist Reprod Genet

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“…The urogenital sinus and the rectum form by partition of the cloaca, with the extension of the urorectal septum and curvature of the caudal part of the embryo; apoptosis is implicated in the breakdown of membranes to open the urogenital sinus and rectum to the amniotic cavity (10)(11)(12)(13). In the female genital tract, the lower part of the vagina forms from the dorsal wall of the urogenital sinus, while the upper vagina, cervix, uterus and fallopian tubes form from the paramesonephric ducts (14,15).…”

Section: Introductionmentioning

confidence: 99%

Mutational analyses of UPIIIA, SHH, EFNB2, and HNF1β in persistent cloaca and associated kidney malformations

Jenkins

Bitner‐Glindzicz

Thomasson

et al. 2007

Journal of Pediatric Urology

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Objectives-'Persistent cloaca' is a severe malformation affecting females in which the urinary, genital and alimentary tracts share a single conduit. Previously, a Uroplakin IIIA (UPIIIA) mutation was reported in one individual with persistent cloaca, and UPIIIA, Sonic Hedgehog (SHH), Ephrin B2 (EFNB2) and Hepatocyte Nuclear Factor 1β (HNF1β) are expressed during the normal development of organs that are affected in this condition. HNF1β mutations have been associated with uterine malformations in humans, and mutations of genes homologous to human SHH or EFNB2 cause persistent cloaca in mice.Patients and Methods-We sought mutations of coding regions of UPIIIA, SHH, EFNB2 and HNF1β genes by direct sequencing in a group of 20 patients with persistent cloaca. Most had associated malformations of the upper renal tract and over half had impaired renal excretory function. The majority of patients had congenital anomalies outside the renal/genital tracts and two had the VACTERL association.Results-Apart from a previously described index case, we failed to find UPIIIA mutations, and no patient had a SHH, EFNB2 or HNF1β mutation.Conclusion-Persistent cloaca is only rarely associated with UPIIIA mutation. Despite the fact that SHH and EFNB2 are appealing candidate genes, based on their expression patterns and mutant mice phenotypes, they were not mutated in these humans with persistent cloaca. Although HNF1β mutations can perturb paramesonephric duct fusion in humans, HNF1β was not mutated in persistent cloaca.

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“…Several genes have been identified in the abnormal and normal development of the uterus, cervix, fallopian tubes, and vagina. Many anomalies are felt to be multifactorial; however there are case reports of familial inheritance suggesting that specific genetic mutations may cause these defects [1]. Furthermore, there are defined genetic syndromes that feature anomalies of the female reproductive tract.…”

Section: Introductionmentioning

confidence: 94%

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

Owen¹,

JH²

2013

J Genet Syndr Gene Ther

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Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. As endometrial function is critical for successful implantation and pregnancy maintenance, these recent data suggest a target for gene therapy. Future research will be needed to determine if gene therapy may improve reproductive outcomes for patients with demonstrated deficient endometrial expression related to abnormal gene expression.

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Genetics of the female reproductive ducts

Cited by 99 publications

References 122 publications

Septate uterus with left fallopian tube hypoplasia and ipsilateral ovarian agenesis

Septate uterus with left fallopian tube hypoplasia and ipsilateral ovarian agenesis

Mutational analyses of UPIIIA, SHH, EFNB2, and HNF1β in persistent cloaca and associated kidney malformations

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

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