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Congenital Reproductive System Abnormality

MedGen UID:
769757
•Concept ID:
C3641117
•
Congenital Abnormality

Definition

A disorder that affects the female or male reproductive system and is present at birth. Representative examples include ovarian agenesis, vaginal agenesis, and penile agenesis. [from NCI]

Professional guidelines

PubMed

Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements.
Viotti M
Genes (Basel) 2020 May 29;11(6) doi: 10.3390/genes11060602. PMID: 32485954Free PMC Article
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
Micropenis: etiology, diagnosis and treatment approaches.
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article

Recent clinical studies

Etiology

Mechanisms of oocyte aneuploidy associated with advanced maternal age.
Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
Advanced Imaging in Female Infertility.
Dishuck CF, Perchik JD, Porter KK, Gunn DD
Curr Urol Rep 2019 Nov 16;20(11):77. doi: 10.1007/s11934-019-0942-0. PMID: 31734736
Hypospadias, all there is to know.
van der Horst HJ, de Wall LL
Eur J Pediatr 2017 Apr;176(4):435-441. Epub 2017 Feb 11 doi: 10.1007/s00431-017-2864-5. PMID: 28190103Free PMC Article
Non-obstructive müllerian anomalies.
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):386-95. Epub 2014 Jul 17 doi: 10.1016/j.jpag.2014.07.001. PMID: 25438707
The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies.
Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Brölmann H, Gianaroli L, Campo R
Hum Reprod 2013 Aug;28(8):2032-44. Epub 2013 Jun 14 doi: 10.1093/humrep/det098. PMID: 23771171Free PMC Article

Diagnosis

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
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
Obstructive reproductive tract anomalies.
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):396-402. Epub 2014 Sep 11 doi: 10.1016/j.jpag.2014.09.001. PMID: 25438708
Non-obstructive müllerian anomalies.
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):386-95. Epub 2014 Jul 17 doi: 10.1016/j.jpag.2014.07.001. PMID: 25438707
The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies.
Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Brölmann H, Gianaroli L, Campo R
Hum Reprod 2013 Aug;28(8):2032-44. Epub 2013 Jun 14 doi: 10.1093/humrep/det098. PMID: 23771171Free PMC Article

Therapy

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Congenital Uterine Malformation by Experts (CUME): diagnostic criteria for T-shaped uterus.
Ludwin A, Coelho Neto MA, Ludwin I, Nastri CO, Costa W, Acién M, Alcazar JL, Benacerraf B, Condous G, DeCherney A, De Wilde RL, Diamond MP, Emanuel MH, Guerriero S, Hurd W, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E, Martins WP
Ultrasound Obstet Gynecol 2020 Jun;55(6):815-829. Epub 2020 May 15 doi: 10.1002/uog.20845. PMID: 31432589
Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
Uterine factors.
Jaslow CR
Obstet Gynecol Clin North Am 2014 Mar;41(1):57-86. doi: 10.1016/j.ogc.2013.10.002. PMID: 24491984

Prognosis

Uterus transplantation and beyond.
Brännström M
J Mater Sci Mater Med 2017 May;28(5):70. Epub 2017 Mar 29 doi: 10.1007/s10856-017-5872-0. PMID: 28357688Free PMC Article
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
Penile surgery and reconstruction.
Perovic SV, Djordjevic ML, Kekic ZK, Djakovic NG
Curr Opin Urol 2002 May;12(3):191-4. doi: 10.1097/00042307-200205000-00002. PMID: 11953672
Intracytoplasmic sperm injection.
Van Steirteghem A, Devroey P, Liebaers I
Mol Cell Endocrinol 2002 Jan 25;186(2):199-203. doi: 10.1016/s0303-7207(01)00658-x. PMID: 11900896
Maldescendus testis.
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886

Clinical prediction guides

Organ Abnormalities Caused by Turner Syndrome.
Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
Congenital Uterine Malformation by Experts (CUME): diagnostic criteria for T-shaped uterus.
Ludwin A, Coelho Neto MA, Ludwin I, Nastri CO, Costa W, Acién M, Alcazar JL, Benacerraf B, Condous G, DeCherney A, De Wilde RL, Diamond MP, Emanuel MH, Guerriero S, Hurd W, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E, Martins WP
Ultrasound Obstet Gynecol 2020 Jun;55(6):815-829. Epub 2020 May 15 doi: 10.1002/uog.20845. PMID: 31432589
Congenital Uterine Malformation by Experts (CUME): better criteria for distinguishing between normal/arcuate and septate uterus?
Ludwin A, Martins WP, Nastri CO, Ludwin I, Coelho Neto MA, Leitão VM, Acién M, Alcazar JL, Benacerraf B, Condous G, De Wilde RL, Emanuel MH, Gibbons W, Guerriero S, Hurd WW, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E
Ultrasound Obstet Gynecol 2018 Jan;51(1):101-109. doi: 10.1002/uog.18923. PMID: 29024135
Uterus transplantation and beyond.
Brännström M
J Mater Sci Mater Med 2017 May;28(5):70. Epub 2017 Mar 29 doi: 10.1007/s10856-017-5872-0. PMID: 28357688Free PMC Article
Etiologies of uterine malformations.
Jacquinet A, Millar D, Lehman A
Am J Med Genet A 2016 Aug;170(8):2141-72. Epub 2016 Jun 8 doi: 10.1002/ajmg.a.37775. PMID: 27273803

Recent systematic reviews

Effect of Hysteroscopic Metroplasty on Reproductive Outcomes in Women with Septate Uterus: Systematic Review and Meta-Analysis.
Carrera M, Pérez Millan F, Alcázar JL, Alonso L, Caballero M, Carugno J, Dominguez JA, Moratalla E
J Minim Invasive Gynecol 2022 Apr;29(4):465-475. Epub 2021 Oct 11 doi: 10.1016/j.jmig.2021.10.001. PMID: 34648934
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
Am I normal? A systematic review and construction of nomograms for flaccid and erect penis length and circumference in up to 15,521 men.
Veale D, Miles S, Bramley S, Muir G, Hodsoll J
BJU Int 2015 Jun;115(6):978-86. Epub 2015 Mar 2 doi: 10.1111/bju.13010. PMID: 25487360
Obstructive reproductive tract anomalies.
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):396-402. Epub 2014 Sep 11 doi: 10.1016/j.jpag.2014.09.001. PMID: 25438708
Non-obstructive müllerian anomalies.
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):386-95. Epub 2014 Jul 17 doi: 10.1016/j.jpag.2014.07.001. PMID: 25438707

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