Absence of endometrium as a cause of primary amenorrhea

Berker, Bülent; Taşkın, Salih; Taşkın, Elif Aylin

doi:10.1016/j.fertnstert.2007.03.076

Cited by 5 publications

(6 citation statements)

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“…Congenital absence of the endometrium is a rare cause of primary amenorrhea. Berker et al [13] reported a case with normal uterine size and shape with a sclerotic uterine cavity lacking endometrium. Our patient differed from this case in that she had a small bicornuate uterus without a uterine cavity.…”

Section: Discussionmentioning

confidence: 99%

Candidate gene analysis in a case of congenital absence of the endometrium

Simavlı

Abreu

Kwaan

et al. 2016

Fertil Res and Pract

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BackgroundPrimary amenorrhea usually result from a genetic or anatomic abnormality. We present the first reported patient with the absence of endometrium and lumen in a small bicornuate uterus in a patient with primary amenorrhea.Case presentationA 41-year-old woman presented for evaluation of primary amenorrhea and infertility. She did develop normal secondary sexual characteristics but never had menses. Physical examination, hormone analyses, and karyotype analysis were normal. Transvaginal ultrasonography revealed a small uterus with absent endometrial stripe. Ovaries were normal in size. Pathology from hysterectomy for abnormal Pap smears revealed a hypoplastic bicornuate uterus with absence of lumen and absent endometrium. DNA analyses for mutations in the coding sequences of three members of HOXA gene family was performed, but no variants in the coding sequence of these genes were found. These findings support the hypothesis that mutations in the coding sequence of HOXA10, HOXA11, and HOXA13 are not responsible for congenital endometrial absence with bicornuate hypoplastic uterus.ConclusionsCongenital absence of the endometrium is an uncommon etiology for primary amenorrhea, and nonvisualization of the endometrial stripe on ultrasound imaging in association with primary amenorrhea should raise suspicion of this rare disorder in this case.

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Section: Discussionmentioning

confidence: 99%

Candidate gene analysis in a case of congenital absence of the endometrium

Simavlı

Abreu

Kwaan

et al. 2016

Fertil Res and Pract

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Section: Potential Mechanisms For An Effect On Fertilitymentioning

confidence: 99%

“…Therefore, these anomalies can affect endometrial receptivity, resulting in implantation failure that manifests as early pregnancy loss or infertility [90]. Furthermore, congenital absence of the endometrium has been reported [95]. Uterine septa were found in 9.7% of women who had experienced preclinical miscarriage after IVF [96], and improved results with IVF after hysteroscopic metroplasty were reported [97].…”

Section: Normal and Abnormal Uterine Developmentmentioning

confidence: 99%

Congenital Uterine Anomalies and their Impact on Fertility

Hassan

Lavery

Trew

2010

Womens Health (Lond Engl)

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Congenital uterine anomalies are not uncommon. Many are asymptomatic and have been associated with normal and adverse reproductive outcomes. The interference of these anomalies with a patient's fertility is an interesting but still debatable issue, and the proper management of infertile women with many forms of these anomalies remains controversial. The current literature regarding the frequency and probable causes of infertility among women with congenital uterine anomalies is insufficient to allow any robust conclusions to be drawn. Diagnostic and selection bias, a lack of objective diagnostic criteria for the different anomaly types and heterogeneity of study designs have contributed to the conflicting results from different studies of the prevalence of these anomalies among the infertile and fertile populations. However, emerging evidence from recent literature suggests causal associations between these anomalies (particularly the septate uterus) and infertility, and demonstrates significant improvements in the fecundity of women with septate uteri and otherwise unexplained infertility after hysteroscopic metroplasty. This review provides a critical update of the state of knowledge regarding congenital uterine anomalies, our current understanding of their effect on fertility and discusses how they can be managed from the reproductive perspective.

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“…[6] Congenital absence of the endometrium without chromosomal aberration has been reported once. [7]…”

Section: Discussionmentioning

confidence: 99%

Absent endometrium due to balanced translocation [t(4;20)] presenting as primary amenorrhea

2014

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Primary amenorrhea is defined as the absence of menarche by 16-18 years of age in the presence of well-developed secondary sexual characters. An incidence of 1-3% has been reported in women of reproductive age group. The etiology varies with anatomical, genetic and hormonal factors implicated in the causation of primary amenorrhea. We present a case of absent endometrium due to balanced reciprocal translocation (RCPTR), 46 XX t (4;20)(q12;q13.1) as primary amenorrhea.

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Absence of endometrium as a cause of primary amenorrhea

Cited by 5 publications

References 1 publication

Candidate gene analysis in a case of congenital absence of the endometrium

Candidate gene analysis in a case of congenital absence of the endometrium

Congenital Uterine Anomalies and their Impact on Fertility

Absent endometrium due to balanced translocation [t(4;20)] presenting as primary amenorrhea

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