Simavli Serap, Abreu Ana Paula, Kwaan Mary R, Dluhy Robert G, Yanushpolsky Elena H, Feltmate Colleen, Cerda Sandra R, Carroll Rona S, Kaiser Ursula B, Kuohung Wendy
Department of Obstetrics and Gynecology, Pamukkale University School of Medicine, Universty Street, Denizli, 20000 Turkey.
Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115 USA.
Fertil Res Pract. 2016 Feb 9;2:3. doi: 10.1186/s40738-016-0015-8. eCollection 2016.
Primary 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.
A 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.
Congenital 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.
原发性闭经通常由遗传或解剖学异常引起。我们报告了首例原发性闭经患者，其双角小子宫内无子宫内膜和宫腔。
一名41岁女性因原发性闭经和不孕症前来就诊。她第二性征发育正常，但从未有过月经。体格检查、激素分析和核型分析均正常。经阴道超声检查显示子宫较小，无子宫内膜线。卵巢大小正常。因巴氏涂片异常行子宫切除术后的病理检查显示双角子宫发育不全，无宫腔和子宫内膜。对HOXA基因家族三个成员的编码序列进行了DNA突变分析，但未发现这些基因编码序列的变异。这些发现支持以下假设：HOXA10、HOXA11和HOXA13编码序列的突变与双角子宫发育不全伴先天性子宫内膜缺失无关。
先天性子宫内膜缺失是原发性闭经的罕见病因，超声检查未发现子宫内膜线且伴有原发性闭经时，应怀疑这种罕见疾病。
