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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

Update on Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N, Song S, Bao X, Zhu L
Front Med 2022 Dec;16(6):859-872. Epub 2022 Dec 23 doi: 10.1007/s11684-022-0969-3. PMID: 36562950
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
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
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
Female epispadias.
Shetty MV, Bhaskaran A, Sen TK
Afr J Paediatr Surg 2011 May-Aug;8(2):215-7. doi: 10.4103/0189-6725.86066. PMID: 22005369

Diagnosis

A Review of Mullerian Anomalies and Their Urologic Associations.
Wu CQ, Childress KJ, Traore EJ, Smith EA
Urology 2021 May;151:98-106. Epub 2020 May 6 doi: 10.1016/j.urology.2020.04.088. PMID: 32387292
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
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
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

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
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
Hypospadias.
Macedo A Jr, Rondon A, Ortiz V
Curr Opin Urol 2012 Nov;22(6):447-52. doi: 10.1097/MOU.0b013e328357bc62. PMID: 23026892
Congenital adrenal hyperplasia.
Speiser PW, White PC
N Engl J Med 2003 Aug 21;349(8):776-88. doi: 10.1056/NEJMra021561. PMID: 12930931

Prognosis

Caudal Duplication Syndrome.
Meena S, Batra P
Indian Pediatr 2015 Dec;52(12):1099. PMID: 26713997
Female epispadias.
Shetty MV, Bhaskaran A, Sen TK
Afr J Paediatr Surg 2011 May-Aug;8(2):215-7. doi: 10.4103/0189-6725.86066. PMID: 22005369
Yunis-Varon syndrome.
Bhatia S, Holla RG
Indian Pediatr 2005 Apr;42(4):373-5. PMID: 15876600
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
Congenital megalourethra.
Wakhlu AK, Wakhlu A, Tandon RK, Kureel SN
J Pediatr Surg 1996 Mar;31(3):441-3. doi: 10.1016/s0022-3468(96)90758-7. PMID: 8708923

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
The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
Zanetti Drumond V, Sousa Salgado L, Sousa Salgado C, Oliveira VAL, de Assis EM, Campos Ribeiro M, Furtado Valadão A, Orrico A
Genet Res (Camb) 2021;2021:6652957. Epub 2021 Feb 2 doi: 10.1155/2021/6652957. PMID: 33762894Free 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
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
Maldescendus testis.
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886

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
The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
Zanetti Drumond V, Sousa Salgado L, Sousa Salgado C, Oliveira VAL, de Assis EM, Campos Ribeiro M, Furtado Valadão A, Orrico A
Genet Res (Camb) 2021;2021:6652957. Epub 2021 Feb 2 doi: 10.1155/2021/6652957. PMID: 33762894Free PMC Article
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
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
Fetal lower urinary tract obstruction and its management.
Tonni G, Vito I, Ventura A, Grisolia G, De Felice C
Arch Gynecol Obstet 2013 Feb;287(2):187-94. Epub 2012 Nov 9 doi: 10.1007/s00404-012-2615-9. PMID: 23138754

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