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Cervical agenesis

MedGen UID:
539897
•Concept ID:
C0266404
•
Congenital Abnormality
Synonyms: Absent cervix; Aplasia of the cervix; Cervical aplasia; Congenital absence of cervix
SNOMED CT: Congenital absence of cervix (37687000)
 
HPO: HP:0030008

Definition

Congenital absence of the uterine cervix. [from HPO]

Professional guidelines

PubMed

Diagnosis and treatment of müllerian malformations.
Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.
Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA
J Pediatr 2016 Nov;178:24-33.e2. Epub 2016 Sep 19 doi: 10.1016/j.jpeds.2016.07.054. PMID: 27659028Free PMC Article

Recent clinical studies

Etiology

Utero-vaginal anastomosis in cases of cervical malformations: long-term follow-up and fertility challenges.
Fouad R, Zayed M
Arch Gynecol Obstet 2023 Apr;307(4):1001-1006. Epub 2022 Nov 28 doi: 10.1007/s00404-022-06858-w. PMID: 36443606Free PMC Article
Reconstructive surgery for congenital atresia of the uterine cervix: a systematic review.
Fedele F, Parazzini F, Vercellini P, Bergamini V, Fedele L
Arch Gynecol Obstet 2023 Sep;308(3):685-700. Epub 2022 Oct 28 doi: 10.1007/s00404-022-06825-5. PMID: 36305896
Functional and Reproductive Outcomes Following Surgical Management of Congenital Anomalies of the Cervix: A Systematic Review.
Mikos T, Lantzanaki M, Anthoulakis C, Grimbizis GF
J Minim Invasive Gynecol 2021 Aug;28(8):1452-1461.e16. Epub 2021 May 29 doi: 10.1016/j.jmig.2020.10.030. PMID: 34058406
Partial Cervical Agenesis and Complete Vaginal Atresia.
Kimble R, Molloy G, Sutton B
J Pediatr Adolesc Gynecol 2016 Jun;29(3):e43-7. Epub 2015 Nov 24 doi: 10.1016/j.jpag.2015.11.004. PMID: 26620386
Surgical methods in the treatment of congenital anomalies of the uterine cervix.
Roberts CP, Rock JA
Curr Opin Obstet Gynecol 2011 Aug;23(4):251-7. doi: 10.1097/GCO.0b013e3283478839. PMID: 21666471

Diagnosis

Successful management of cervical dysgenesis: Case report and review.
Malhotra V, Nanda S, Chauhan M, Bhardwaj R, Chauhan A
Trop Doct 2023 Apr;53(2):271-275. Epub 2023 Jan 27 doi: 10.1177/00494755221149228. PMID: 36705083
Functional and Reproductive Outcomes Following Surgical Management of Congenital Anomalies of the Cervix: A Systematic Review.
Mikos T, Lantzanaki M, Anthoulakis C, Grimbizis GF
J Minim Invasive Gynecol 2021 Aug;28(8):1452-1461.e16. Epub 2021 May 29 doi: 10.1016/j.jmig.2020.10.030. PMID: 34058406
Partial Cervical Agenesis and Complete Vaginal Atresia.
Kimble R, Molloy G, Sutton B
J Pediatr Adolesc Gynecol 2016 Jun;29(3):e43-7. Epub 2015 Nov 24 doi: 10.1016/j.jpag.2015.11.004. PMID: 26620386
Surgical methods in the treatment of congenital anomalies of the uterine cervix.
Roberts CP, Rock JA
Curr Opin Obstet Gynecol 2011 Aug;23(4):251-7. doi: 10.1097/GCO.0b013e3283478839. PMID: 21666471
Cervical agenesis combined with vaginal agenesis diagnosed by magnetic resonance imaging.
Markham SM, Parmley TH, Murphy AA, Huggins GR, Rock JA
Fertil Steril 1987 Jul;48(1):143-5. doi: 10.1016/s0015-0282(16)59304-2. PMID: 3595911

Therapy

Conservative surgical repair in cervical atresia associated with partial or complete absence of the vagina.
Fedele L, Vercellini P, Ciappina N, Salvatore S, Fedele F, Candiani M
Fertil Steril 2022 Sep;118(3):593-595. Epub 2022 Jul 9 doi: 10.1016/j.fertnstert.2022.05.035. PMID: 35817600
Functional and Reproductive Outcomes Following Surgical Management of Congenital Anomalies of the Cervix: A Systematic Review.
Mikos T, Lantzanaki M, Anthoulakis C, Grimbizis GF
J Minim Invasive Gynecol 2021 Aug;28(8):1452-1461.e16. Epub 2021 May 29 doi: 10.1016/j.jmig.2020.10.030. PMID: 34058406
Laparoscopic-assisted uterovaginal anastomosis in congenital atresia of uterine cervix: follow-up study.
Kriplani A, Kachhawa G, Awasthi D, Kulshrestha V
J Minim Invasive Gynecol 2012 Jul-Aug;19(4):477-84. doi: 10.1016/j.jmig.2012.03.017. PMID: 22748953
Surgical methods in the treatment of congenital anomalies of the uterine cervix.
Roberts CP, Rock JA
Curr Opin Obstet Gynecol 2011 Aug;23(4):251-7. doi: 10.1097/GCO.0b013e3283478839. PMID: 21666471

Prognosis

Utero-vaginal anastomosis in cases of cervical malformations: long-term follow-up and fertility challenges.
Fouad R, Zayed M
Arch Gynecol Obstet 2023 Apr;307(4):1001-1006. Epub 2022 Nov 28 doi: 10.1007/s00404-022-06858-w. PMID: 36443606Free PMC Article
Cervicovaginal anastomosis by Gore-Tex in Mullerian agenesis.
Rezaei Z, Omidvar A, Niroumanesh S, Omidvar A
Arch Gynecol Obstet 2015 Feb;291(2):467-72. Epub 2014 Sep 3 doi: 10.1007/s00404-014-3442-y. PMID: 25182214
Bicornuate uterine horns with complete cervical-vaginal agenesis and congenital vesicouterine fistula.
Kumar S, Singh SK, Mavuduru R, Naveen A, Agarwal MM, Vanita J, Mandal AK
Int Urogynecol J Pelvic Floor Dysfunct 2008 May;19(5):739-41. Epub 2007 Dec 15 doi: 10.1007/s00192-007-0507-5. PMID: 18084688
Cervical agenesis: septic death after surgery.
Casey AC, Laufer MR
Obstet Gynecol 1997 Oct;90(4 Pt 2):706-7. doi: 10.1016/s0029-7844(97)00391-8. PMID: 11770611
Magnetic resonance imaging in müllerian fusion defects.
Doyle MB
J Reprod Med 1992 Jan;37(1):33-8. PMID: 1532208

Clinical prediction guides

Conservative surgical repair in cervical atresia associated with partial or complete absence of the vagina.
Fedele L, Vercellini P, Ciappina N, Salvatore S, Fedele F, Candiani M
Fertil Steril 2022 Sep;118(3):593-595. Epub 2022 Jul 9 doi: 10.1016/j.fertnstert.2022.05.035. PMID: 35817600
Postoperative Pelvic Abscess after Cervicovaginal Canalization for Congenital Cervical and Vaginal Agenesis: A Report of 4 Cases.
Kang J, Zhu L, Zhang Y, Ma C, Ma Y
J Pediatr Adolesc Gynecol 2020 Jun;33(3):324-327. Epub 2019 Dec 12 doi: 10.1016/j.jpag.2019.12.003. PMID: 31838153
Laparoscopic-assisted uterovaginal anastomosis in congenital atresia of uterine cervix: follow-up study.
Kriplani A, Kachhawa G, Awasthi D, Kulshrestha V
J Minim Invasive Gynecol 2012 Jul-Aug;19(4):477-84. doi: 10.1016/j.jmig.2012.03.017. PMID: 22748953
Surgical methods in the treatment of congenital anomalies of the uterine cervix.
Roberts CP, Rock JA
Curr Opin Obstet Gynecol 2011 Aug;23(4):251-7. doi: 10.1097/GCO.0b013e3283478839. PMID: 21666471
Magnetic resonance imaging in müllerian fusion defects.
Doyle MB
J Reprod Med 1992 Jan;37(1):33-8. PMID: 1532208

Recent systematic reviews

Reconstructive surgery for congenital atresia of the uterine cervix: a systematic review.
Fedele F, Parazzini F, Vercellini P, Bergamini V, Fedele L
Arch Gynecol Obstet 2023 Sep;308(3):685-700. Epub 2022 Oct 28 doi: 10.1007/s00404-022-06825-5. PMID: 36305896
Functional and Reproductive Outcomes Following Surgical Management of Congenital Anomalies of the Cervix: A Systematic Review.
Mikos T, Lantzanaki M, Anthoulakis C, Grimbizis GF
J Minim Invasive Gynecol 2021 Aug;28(8):1452-1461.e16. Epub 2021 May 29 doi: 10.1016/j.jmig.2020.10.030. PMID: 34058406

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