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Abnormality of reproductive system physiology

MedGen UID:
892582
•Concept ID:
C4021820
•
Pathologic Function
Synonyms: Abnormality of genital physiology; Genital functional abnormality
 
HPO: HP:0000080

Definition

An abnormal functionality of the genital system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of reproductive system physiology

Professional guidelines

PubMed

First Trimester Bleeding: Evaluation and Management.
Hendriks E, MacNaughton H, MacKenzie MC
Am Fam Physician 2019 Feb 1;99(3):166-174. PMID: 30702252
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: I. The 2014 Diagnosis and Staging Working Group report.
Jagasia MH, Greinix HT, Arora M, Williams KM, Wolff D, Cowen EW, Palmer J, Weisdorf D, Treister NS, Cheng GS, Kerr H, Stratton P, Duarte RF, McDonald GB, Inamoto Y, Vigorito A, Arai S, Datiles MB, Jacobsohn D, Heller T, Kitko CL, Mitchell SA, Martin PJ, Shulman H, Wu RS, Cutler CS, Vogelsang GB, Lee SJ, Pavletic SZ, Flowers ME
Biol Blood Marrow Transplant 2015 Mar;21(3):389-401.e1. Epub 2014 Dec 18 doi: 10.1016/j.bbmt.2014.12.001. PMID: 25529383Free PMC Article

Recent clinical studies

Etiology

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
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
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
Disorders of sex development.
Witchel SF
Best Pract Res Clin Obstet Gynaecol 2018 Apr;48:90-102. Epub 2017 Nov 22 doi: 10.1016/j.bpobgyn.2017.11.005. PMID: 29503125Free PMC Article
Uterine septum: a guideline.
Practice Committee of the American Society for Reproductive Medicine. Electronic address: ASRM@asrm.org; Practice Committee of the American Society for Reproductive Medicine
Fertil Steril 2016 Sep 1;106(3):530-40. Epub 2016 May 25 doi: 10.1016/j.fertnstert.2016.05.014. PMID: 27235766

Diagnosis

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
Role of m6A modification in female infertility and reproductive system diseases.
Chen J, Fang Y, Xu Y, Sun H
Int J Biol Sci 2022;18(9):3592-3604. Epub 2022 May 16 doi: 10.7150/ijbs.69771. PMID: 35813486Free PMC Article
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
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
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

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
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
Impact of Metformin on Male Reproduction.
Ferreira C, Sousa M, Rabaça A, Oliveira PF, Alves MG, Sá R
Curr Pharm Des 2015;21(25):3621-33. doi: 10.2174/1381612821666150710150041. PMID: 26166607
Recurrent miscarriage: causes, evaluation and management.
Garrido-Gimenez C, Alijotas-Reig J
Postgrad Med J 2015 Mar;91(1073):151-62. Epub 2015 Feb 13 doi: 10.1136/postgradmedj-2014-132672. PMID: 25681385
National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: I. The 2014 Diagnosis and Staging Working Group report.
Jagasia MH, Greinix HT, Arora M, Williams KM, Wolff D, Cowen EW, Palmer J, Weisdorf D, Treister NS, Cheng GS, Kerr H, Stratton P, Duarte RF, McDonald GB, Inamoto Y, Vigorito A, Arai S, Datiles MB, Jacobsohn D, Heller T, Kitko CL, Mitchell SA, Martin PJ, Shulman H, Wu RS, Cutler CS, Vogelsang GB, Lee SJ, Pavletic SZ, Flowers ME
Biol Blood Marrow Transplant 2015 Mar;21(3):389-401.e1. Epub 2014 Dec 18 doi: 10.1016/j.bbmt.2014.12.001. PMID: 25529383Free PMC Article

Prognosis

Uterine septum: a guideline.
Practice Committee of the American Society for Reproductive Medicine. Electronic address: ASRM@asrm.org; Practice Committee of the American Society for Reproductive Medicine
Fertil Steril 2016 Sep 1;106(3):530-40. Epub 2016 May 25 doi: 10.1016/j.fertnstert.2016.05.014. PMID: 27235766
Disorders of sexual development.
McCann-Crosby B, Sutton VR
Clin Perinatol 2015 Jun;42(2):395-412, ix-x. Epub 2015 Mar 29 doi: 10.1016/j.clp.2015.02.006. PMID: 26042911
The exstrophy-epispadias complex.
Ebert AK, Reutter H, Ludwig M, Rösch WH
Orphanet J Rare Dis 2009 Oct 30;4:23. doi: 10.1186/1750-1172-4-23. PMID: 19878548Free PMC Article
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
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
Regulation of masculinization: androgen signalling for external genitalia development.
Matsushita S, Suzuki K, Murashima A, Kajioka D, Acebedo AR, Miyagawa S, Haraguchi R, Ogino Y, Yamada G
Nat Rev Urol 2018 Jun;15(6):358-368. doi: 10.1038/s41585-018-0008-y. PMID: 29670181
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
Uterine septum: a guideline.
Practice Committee of the American Society for Reproductive Medicine. Electronic address: ASRM@asrm.org; Practice Committee of the American Society for Reproductive Medicine
Fertil Steril 2016 Sep 1;106(3):530-40. Epub 2016 May 25 doi: 10.1016/j.fertnstert.2016.05.014. PMID: 27235766
Maldescendus testis.
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886

Recent systematic reviews

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
The association between endometriosis and autoimmune diseases: a systematic review and meta-analysis.
Shigesi N, Kvaskoff M, Kirtley S, Feng Q, Fang H, Knight JC, Missmer SA, Rahmioglu N, Zondervan KT, Becker CM
Hum Reprod Update 2019 Jul 1;25(4):486-503. doi: 10.1093/humupd/dmz014. PMID: 31260048Free PMC Article
Effects of aging on the male reproductive system.
Gunes S, Hekim GN, Arslan MA, Asci R
J Assist Reprod Genet 2016 Apr;33(4):441-54. Epub 2016 Feb 11 doi: 10.1007/s10815-016-0663-y. PMID: 26867640Free 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
Role of vitamin D in ovarian physiology and its implication in reproduction: a systematic review.
Irani M, Merhi Z
Fertil Steril 2014 Aug;102(2):460-468.e3. Epub 2014 Jun 3 doi: 10.1016/j.fertnstert.2014.04.046. PMID: 24933120

Supplemental Content

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    Clinical resources

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