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

Abstract

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.

Primary amenorrhea due to sclerotic or “non-functional” endometrium: Case presentation and literature review

“…The patient needed abdominal hysterectomy for treatment of CIN 2-3 as her cervix was very small and flush with the vaginal vault. Histology confirmed absent endometrial lumen and endometrium [8]. This patient had similarities to our patient due to presence of Mullerian abnormality of the uterus and normal chromosomes 46 XX.…”

“…This woman had two differences than our patient in that this patient had abnormal chromosomes but normal anatomy of the uterus and cervix. Simavli et al (2016) described a 41-year-old with Mullerian abnormality, specifically hypoplastic bicornuate uterus. The patient needed abdominal hysterectomy for treatment of CIN 2-3 as her cervix was very small and flush with the vaginal vault.…”

“…Absent or sclerotic endometrium is not commonly considered in the evaluation of primary amenorrhea by most gynecologists. There are only three cases previously reported in English literature [6][7][8].…”

OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity

“…However, we cannot extend this association to include all cases of thin and E2-unresponsive endometrium. Interestingly, we previously reported absence of endometrium in association with a hypoplastic bicornuate uterus without an OSR1 mutation, further demonstrating that endometrial abnormalities may be seen with defective MD development ( 37 ).…”