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Abnormal male reproductive system physiology

MedGen UID:
866472
•Concept ID:
C4020716
•
Pathologic Function
Synonym: Abnormal male genital system physiology
 
HPO: HP:0012874

Definition

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

Professional guidelines

PubMed

Genetics of cryptorchidism and testicular regression.
Elamo HP, Virtanen HE, Toppari J
Best Pract Res Clin Endocrinol Metab 2022 Jan;36(1):101619. Epub 2022 Feb 4 doi: 10.1016/j.beem.2022.101619. PMID: 35193821
Scientific Statement on the Diagnostic Criteria, Epidemiology, Pathophysiology, and Molecular Genetics of Polycystic Ovary Syndrome.
Dumesic DA, Oberfield SE, Stener-Victorin E, Marshall JC, Laven JS, Legro RS
Endocr Rev 2015 Oct;36(5):487-525. doi: 10.1210/er.2015-1018. PMID: 26426951Free 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

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
Analgesic use in pregnancy and male reproductive development.
Hurtado-Gonzalez P, Mitchell RT
Curr Opin Endocrinol Diabetes Obes 2017 Jun;24(3):225-232. doi: 10.1097/MED.0000000000000338. PMID: 28277341Free PMC Article
Steroid 5α-reductase 2 deficiency.
Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD
J Steroid Biochem Mol Biol 2016 Oct;163:206-11. Epub 2016 May 22 doi: 10.1016/j.jsbmb.2016.05.020. PMID: 27224879
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
Food safety.
Borchers A, Teuber SS, Keen CL, Gershwin ME
Clin Rev Allergy Immunol 2010 Oct;39(2):95-141. doi: 10.1007/s12016-009-8176-4. PMID: 19911313

Diagnosis

Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.
Kapczuk K, Kędzia W
Int J Mol Sci 2021 Oct 25;22(21) doi: 10.3390/ijms222111495. PMID: 34768925Free PMC Article
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
The masculinization programming window.
Welsh M, Suzuki H, Yamada G
Endocr Dev 2014;27:17-27. Epub 2014 Sep 9 doi: 10.1159/000363609. PMID: 25247641
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
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

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
Fertility management of Klinefelter syndrome.
Fainberg J, Hayden RP, Schlegel PN
Expert Rev Endocrinol Metab 2019 Nov;14(6):369-380. Epub 2019 Oct 7 doi: 10.1080/17446651.2019.1671821. PMID: 31587581
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
Food safety.
Borchers A, Teuber SS, Keen CL, Gershwin ME
Clin Rev Allergy Immunol 2010 Oct;39(2):95-141. doi: 10.1007/s12016-009-8176-4. PMID: 19911313
Klinefelter's syndrome.
Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E
Lancet 2004 Jul 17-23;364(9430):273-83. doi: 10.1016/S0140-6736(04)16678-6. PMID: 15262106

Prognosis

The masculinization programming window.
Welsh M, Suzuki H, Yamada G
Endocr Dev 2014;27:17-27. Epub 2014 Sep 9 doi: 10.1159/000363609. PMID: 25247641
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
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
Male factor infertility.
Brugh VM 3rd, Matschke HM, Lipshultz LI
Endocrinol Metab Clin North Am 2003 Sep;32(3):689-707. doi: 10.1016/s0889-8529(03)00047-1. PMID: 14560894
Maldescendus testis.
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886

Clinical prediction guides

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
Ontogeny of estrogen receptors in human male and female fetal reproductive tracts.
Cunha GR, Li Y, Mei C, Derpinghaus A, Baskin LS
Differentiation 2021 Mar-Apr;118:107-131. Epub 2020 Oct 17 doi: 10.1016/j.diff.2020.10.001. PMID: 33176961Free PMC Article
An evidence-based review of the genotoxic and reproductive effects of sulfur mustard.
Khan F, Niaz K, Ismail Hassan F, Abdollahi M
Arch Toxicol 2017 Mar;91(3):1143-1156. Epub 2016 Dec 28 doi: 10.1007/s00204-016-1911-8. PMID: 28032143
The masculinization programming window.
Welsh M, Suzuki H, Yamada G
Endocr Dev 2014;27:17-27. Epub 2014 Sep 9 doi: 10.1159/000363609. PMID: 25247641
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 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
46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review.
Terribile M, Stizzo M, Manfredi C, Quattrone C, Bottone F, Giordano DR, Bellastella G, Arcaniolo D, De Sio M
Medicina (Kaunas) 2019 Jul 12;55(7) doi: 10.3390/medicina55070371. PMID: 31336995Free 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

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