参考文献/References:
［1］Cheroki C, Krepischi-Santos A C, Szuhai K, et al.Genomic imbalances associated with mullerian a plasia ［J］.Journal of medical genetics, 2008, 45(4): 228-232.
［2］Cheroki C, Krepischi-Santos A C, Rosenberg C, et al.Report of a del22q11 in a patient with Mayer-Rokitansky-Kuster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women ［J］.American journal of medical genetics Part A, 2006, 140(12): 1339-1342.
［3］Fontana L, Gentilin B, Fedele L, et al.Genetics of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome ［J］.Clinical genetics, 2017, 91(2): 233-246.
［4］Smith C C, Taylor H S.Xenoestrogen exposure imprints expression of genes (Hoxa10) required for normal uterine development ［J］.FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2007, 21(1): 239-246.
［5］Carson S A， Simpson J L， Malinak L R , et al.Heritable aspects of uterine anomalies.II.Genetic analysis of Müllerian aplasia ［J］.Fertility and sterility, 1983, 40(1):86-90.
［6］Tiker F, Yildirim S V, Barutcu O, et al.Familial mullerian agenesis ［J］.The Turkish journal of pediatrics, 2000, 42(4): 322-324.
［7］Hammoud A O, Gibson M, Peterson C M, et al.Quantification of the familial contribution to mullerian anomalies ［J］.Obstetrics and gynecology, 2008, 111(2 Pt 1): 378-384.
［8］Ledig S, Brucker S, Barresi G, et al.Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome ［J］.Human reproduction (Oxford, England), 2012, 27(9): 2872-2875.
［9］Philibert P, Biason-Lauber A, Gueorguieva I, et al.Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Kuster-Hauser syndrome) ［J］.Fertility and Sterility, 2011, 95(8): 2683-2686.
［10］Waschik D E, Tewes A C, Romer T, et al.Mutations in WNT9B are associated with Mayer- Rokitansky-Kuster-Hauser syndrome ［J］.Clinical Genetics, 2016, 89(5): 590-596.
［11］Nik-Zaina S, Strick R, Storer M, et al.High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia ［J］.Journal of Medical Genetics, 2011, 48(3): 197-204.
［12］Mcgowan R, Tydeman G, Shapiro D, et al.DNA copy number variations are important in the complex genetic architecture of mullerian disorders ［J］.Fertility and Sterility, 2015, 103(4): 1021-1030.e1.
［13］Morcel K, Watrin T, Pasquier L, et al.Utero-vaginal aplasia (Mayer-Rokitansky-Küster- Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci ［J］.Orphanet Journal of Rare Diseases, 2011,6:9.
［14］Tewes A C, Rall K K, Romer T, et al.Variations in RBM8A and TBX6 are associated with disorders of the mullerian ducts ［J］.Fertility and Sterility, 2015, 103(5): 1313-1318.
［15］Wang L, Zhang Y, Fu X, et al.Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Mullerian anomalies ［J］.Cell Research, 2020,30:91-94.
［16］Pan H X, Luo G N.Phenotypic and clinical aspects of Mayer-Rokitansky-Kuster-Hauser syndrome in a Chinese population: an analysis of 594 patients ［J］.Fertility and Sterility, 2016, 106(5): 1190-1194.
［17］Rall K, Eisenbeis S, Henninger V, et al.Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome ［J］.Journal of Pediatric and Adolescent Gynecology, 2015, 28(5): 362-368.
［18］Oppelt P G, Muller A, Stephan L, et al.Hyperandrogenemia and high prolactin in congenital utero-vaginal aplasia patients ［J］.Reproduction (Cambridge, England), 2017, 153(5): 555-563.
［19］Robbins J B, Broadwell C, Chow L C, et al.Mullerian duct anomalies: embryological development, classification, and MRI assessment ［J］.Journal of Magnetic Resonance Imaging : JMRI, 2015, 41(1): 1-12.
［20］ACOG Committee Opinion No.728 Summary: Mullerian agenesis: diagnosis, management, and treatment ［J］.Obstetrics and Gynecology, 2018, 131(1): 196-197.
［21］Oppelt P, Have M V, Paulsen M, et al.Female genital malformations and their associated abnormalities ［J］.Fertility and Sterility, 2006, 87(2): 340-342.
［22］Grimbizis G F, Gordts S, Di Spiezio Sardo A, et al.The ESHREESGE consensus on the classification of female genital tract congenital anomalies ［J］.Gynecological Surgery, 2013, 10(3): 199-212.
［23］朱兰, 郎景和, 宋磊, 等.关于阴道斜隔综合征、MRKH综合征和阴道闭锁诊治的中国专家共识 ［J］.中华妇产科杂志, 2018, 53(1): 35-42.
［24］Singh S, Ilyayeva S.Androgen Insensitivity Syndrome ［M］.StatPearls Publishing LLC.2019.
［25］Augoulea A, Zachou G, Lambrinoudaki I.Turner syndrome and osteoporosis ［J］.Maturitas, 2019, 130(9).DOI: 10.1016/j.maturitas.2019.09.010
［26］Ernst M E, Sandberg D E, Keegan C, et al.The lived experience of MRKH: Sharing health information with peers ［J］.Journal of Pediatric and Adolescent Gynecology, 2016, 29(2): 154-158.
［27］Edmonds D K, Rose G L, Lipton M G, et al.Mayer-Rokitansky-Küster-Hauser syndrome: a review of 245 consecutive cases managed by a multidisciplinary approach with vaginal dilators ［J］.Fertility and Sterility, 2012, 97(3):
［28］Davydov S N . Colpopoeisis from the peritoneum of the uterorectal space ［J］.Akusherstvo i Ginekologiia， 1970，48（12）：55-57.
［29］秦成路, 罗光楠, 余鸿标, 等.腹腔镜腹膜阴道成形术术后人工阴道微生态分析 ［J］.中国微生态学杂志, 2015, 27(11): 1342-1345.
［30］Ohashi S, Ikuma K, Koyasu Y, et al.Laparoscopic reconstruction of vagina using sigmoid autograft ［J］.Surgical Endoscopy, 1996, 10(10): 1019-1021.
［31］Parsons J K, Gearhart S L, Gearhart J P.Vagina l reconstruction utilizing sigmoid colon: Complications and long-term results ［J］.Journal of Pediatric Surgery, 2002, 37(4): 629-633.
［32］Lambert A E, Mukati M, Shobeiri S A.Metastatic cancer in sigmoid neovagina: a case report ［J］.Female Pelvic Medicine & Reconstructive Surgery, 2013, 19(1): 56-57.
［33］Deorsola L, Napoleone C P, Abbruzzese P A.Repair of an unusual aortic coarctation using an extracellular matrix patch ［J］.The Annals of Thoracic Surgery, 2014, 97(3):1059-1061.
［34］周慧梅, 朱兰.先天性无阴道综合征生物补片法阴道成形术的手术方法介绍和临床结局 ［J］.中国计划生育和妇产科, 2013, 5(5): 9-13.
［35］Ding J X, Chen L M, Zhang X Y, et al.Sexual and functional outcomes of vaginoplasty using acellular porcine small intestinal submucosa graft or laparoscopic peritoneal vaginoplasty: a comparative study ［J］.Human reproduction (Oxford, England), 2015, 30(3): 581-589.
［36］Jackson N D, Rosenblatt P L.Use of Interceed Absorbable Adhesion Barrier for vaginoplasty ［J］.Obstetrics and Gynecology, 1994, 84(6): 1048-1050.
［37］Zhang X, Qiu J, Ding J, et al.Comparison of neovaginoplasty using acellular porcine small intestinal submucosa graft or Interceed in patients with Mayer-Rokitansky-Kuster-Hauser syndrome ［J］.Archives of Gynecology and Obstetrics, 2019, 300(6): 1633-1636.
［38］罗光楠, 潘宏信.MRKH综合征的治疗及其效果 ［J］.实用妇产科杂志, 2018, 34(9): 648-650.