46,XX女性性腺发育不全与 Mayer-Rokitansky-Kuster-Hauser综合征并存：一例报告及文献复习
Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature.
作者信息
Shah Viral N, Ganatra Parth J, Parikh Rajni, Kamdar Panna, Baxi Seema, Shah Nishit
机构信息
Barbara Davis Center for Diabetes, Aurora, Colorado, USA.
出版信息
Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S274-7. doi: 10.4103/2230-8210.119605.
Abstract
The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare. We report a 21-year-old phenotypical female who presented with primary amenorrhea and underdeveloped secondary sexual characteristics. Hormonal evaluation revealed hypergonadotropic hypogonadism. Her karyotype was 46XX. Laparoscopy of pelvis revealed absent uterus, normal fallopian tubes and bilateral streak ovaries, which were biopsied and histopathology was consistent with the findings of gonadal dysgenesis. We searched PubMed for similar reports in the literature and details of all the cases were analyzed and reported here.
摘要
性腺发育不全与迈耶-罗基坦斯基-库斯特-豪泽综合征的关联非常罕见。我们报告了一名21岁的表型女性，她表现为原发性闭经和第二性征发育不全。激素评估显示高促性腺激素性性腺功能减退。她的核型为46XX。盆腔腹腔镜检查显示子宫缺如、输卵管正常以及双侧条索状卵巢，对卵巢进行了活检，组织病理学结果与性腺发育不全的表现一致。我们在PubMed上搜索了文献中的类似报告，并对所有病例的细节进行了分析并在此报告。
相似文献
1
Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature.46,XX女性性腺发育不全与 Mayer-Rokitansky-Kuster-Hauser综合征并存：一例报告及文献复习
Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S274-7. doi: 10.4103/2230-8210.119605.
2
Mayer-Rokitansky-Küster-Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female.一名46,XX女性患 Mayer-Rokitansky-Küster-Hauser综合征，伴有宫颈及正常阴道，合并性腺发育不全。
J Obstet Gynaecol Res. 2019 Jul;45(7):1386-1390. doi: 10.1111/jog.13956. Epub 2019 Mar 26.
3
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.一例罕见的46,XX性腺发育不全合并迈耶-罗基坦斯基-库斯特-豪泽综合征。
J Hum Reprod Sci. 2016 Oct-Dec;9(4):263-266. doi: 10.4103/0974-1208.197694.
4
Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report.46,XX性腺发育不全合并迈耶-罗基坦斯基-库斯特-豪泽综合征：一例报告
Obstet Gynecol Int. 2010;2010:847370. doi: 10.1155/2010/847370. Epub 2010 Dec 29.
5
Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report.46 XX核型女性性腺发育不全与苗勒氏管发育不全并存：一例报告
JNMA J Nepal Med Assoc. 2019 Mar-Apr;57(216):119-122. doi: 10.31729/jnma.4287.
6
Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature.一名核型为46, XX的女孩患性腺发育不全及迈耶-罗基坦斯基-库斯特-豪泽综合征：病例报告及文献复习
Indian J Endocrinol Metab. 2013 May;17(3):505-8. doi: 10.4103/2230-8210.111663.
7
A rare case of 46,XX gonadal dysgenesis, Mayer-Rokitansky-Kuster-Hauser syndrome, pituitary and thyroid hypoplasia.一例罕见的46,XX性腺发育不全、迈耶-罗基坦斯基-库斯特-豪泽综合征、垂体和甲状腺发育不全病例。
Endocrinol Diabetes Metab Case Rep. 2022 Feb 1;2022. doi: 10.1530/EDM-21-0103.
8
[Gonadal dysgenesis associated with Mayer-Rokitansky-Küster-Hauser syndrome: a case report].[与迈耶-罗基坦斯基-库斯特-豪泽综合征相关的性腺发育不全：一例报告]
Ann Endocrinol (Paris). 2004 Oct;65(5):466-8. doi: 10.1016/s0003-4266(04)95953-7.
9
A rare form of Mayer-Rokitansky-Küster-Hauser syndrome: Case report and review of literature.一种罕见的 Mayer-Rokitansky-Küster-Hauser 综合征：病例报告及文献复习
Case Rep Womens Health. 2019 Aug 6;24:e00137. doi: 10.1016/j.crwh.2019.e00137. eCollection 2019 Oct.
10
Mayer-Rokitansky-Küster-Hauser Syndrome with Alopecia: A Rare Case Report with Review of Literature.伴有脱发的梅耶-罗基坦斯基-库斯特-豪泽综合征：一例罕见病例报告并文献复习
Int J Trichology. 2016 Jul-Sep;8(3):141-3. doi: 10.4103/0974-7753.189012.
引用本文的文献
1
Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam.出生时性别指定的变异性及性发育差异的病因诊断：来自阿萨姆邦的十年机构经验
Indian J Endocrinol Metab. 2024 Jul-Aug;28(4):417-423. doi: 10.4103/ijem.ijem_385_23. Epub 2024 Aug 28.
2
Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report.46 XX核型女性性腺发育不全与苗勒氏管发育不全并存：一例报告
JNMA J Nepal Med Assoc. 2019 Mar-Apr;57(216):119-122. doi: 10.31729/jnma.4287.
3
Primary amenorrhoea secondary to two different syndromes: a case study.继发于两种不同综合征的原发性闭经：病例研究
BMJ Case Rep. 2019 Mar 15;12(3):e228148. doi: 10.1136/bcr-2018-228148.
4
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.一例罕见的46,XX性腺发育不全合并迈耶-罗基坦斯基-库斯特-豪泽综合征。
J Hum Reprod Sci. 2016 Oct-Dec;9(4):263-266. doi: 10.4103/0974-1208.197694.
5
Mayer-Rokitansky-Küster-Hauser Syndrome with Alopecia: A Rare Case Report with Review of Literature.伴有脱发的梅耶-罗基坦斯基-库斯特-豪泽综合征：一例罕见病例报告并文献复习
Int J Trichology. 2016 Jul-Sep;8(3):141-3. doi: 10.4103/0974-7753.189012.
6
Unusual association of Turner syndrome and Mayer-Rokitansky-Küster-Hauser syndrome.特纳综合征与迈耶-罗基坦斯基-库斯特-豪泽综合征的罕见关联。
BMJ Case Rep. 2016 May 20;2016:bcr2015212634. doi: 10.1136/bcr-2015-212634.
本文引用的文献
1
Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report.46,XX性腺发育不全合并迈耶-罗基坦斯基-库斯特-豪泽综合征：一例报告
Obstet Gynecol Int. 2010;2010:847370. doi: 10.1155/2010/847370. Epub 2010 Dec 29.
2
Primary hypergonadotrophic hypogonadism, alopecia totalis, and müllerian hypoplasia: a clinical study.
J Pak Med Assoc. 2009 Aug;59(8):571-3.
3
4
Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review.原发性性腺功能减退、部分性脱发和苗勒管发育不全：第三例家系报告及文献复习
Am J Med Genet A. 2009 Mar;149A(3):501-4. doi: 10.1002/ajmg.a.32645.
5
Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.28例原发性闭经和苗勒管异常青春期女孩中新型WNT4基因突变的鉴定与功能分析：一项法国合作研究
J Clin Endocrinol Metab. 2008 Mar;93(3):895-900. doi: 10.1210/jc.2007-2023. Epub 2008 Jan 8.
6
The Mayer-Rokitansky-Kuster-Hauser and gonadal dysgenesis anomaly in a girl with 45,X/46,X,del(X)(p11.21).
Am J Med Genet A. 2008 Jan 1;146A(1):128-31. doi: 10.1002/ajmg.a.32048.
7
Fourth case of uterine aplasia, ovarian dysgenesis, amenorrhea and impuberism: a variant of Mayer-Rokitansky-Kuster-Hauser syndrome.
Acta Paediatr. 2007 Sep;96(9):1371-2. doi: 10.1111/j.1651-2227.2007.00404.x.
8
Management of an unusual case of atypical Mayer-Rokitansky-Kuster-Hauser syndrome, with unilateral gonadal agenesis, solitary ectopic pelvic kidney, and pelviureteric junction obstruction.一例罕见的非典型迈耶-罗基坦斯基-库斯特-豪泽综合征的治疗，该病例伴有单侧性腺发育不全、孤立性盆腔异位肾和肾盂输尿管连接部梗阻。
Int Urogynecol J Pelvic Floor Dysfunct. 2007 Jul;18(7):823-5. doi: 10.1007/s00192-006-0238-z. Epub 2006 Nov 9.
9
[Gonadal dysgenesis associated with Mayer-Rokitansky-Küster-Hauser syndrome: a case report].[与迈耶-罗基坦斯基-库斯特-豪泽综合征相关的性腺发育不全：一例报告]
Ann Endocrinol (Paris). 2004 Oct;65(5):466-8. doi: 10.1016/s0003-4266(04)95953-7.
10
DNA sequence variations of the entire anti-Mullerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Kuster-Hauser syndrome.
Hum Reprod. 2005 Jan;20(1):149-57. doi: 10.1093/humrep/deh547. Epub 2004 Nov 18.
Zotero 插件