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Functional abnormality of male internal genitalia

MedGen UID:
871400
Concept ID:
C4025898
Anatomical Abnormality
HPO: HP:0000025

Professional guidelines

PubMed

Juul A, Gravholt CH, De Vos M, Koledova E, Cools M
Front Endocrinol (Lausanne) 2023;14:1160884. Epub 2023 May 5 doi: 10.3389/fendo.2023.1160884. PMID: 37214245Free PMC Article
Syryn H, Van De Vijver K, Cools M
Horm Res Paediatr 2023;96(2):180-189. Epub 2021 Sep 1 doi: 10.1159/000519323. PMID: 34469891
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

Li P, Brown S, Williams M, White T, Xie W, Cui W, Peker D, Lei L, Kunder CA, Wang HY, Murray SS, Vagher J, Kovacsovics T, Patel JL
Blood 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135. PMID: 35671390Free PMC Article
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
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
Sinclair AW, Cao M, Baskin L, Cunha GR
Differentiation 2016 Jan-Mar;91(1-3):1-18. Epub 2016 Jan 20 doi: 10.1016/j.diff.2016.01.004. PMID: 26810244Free PMC Article
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

Diagnosis

Reyes AP, León NY, Frost ER, Harley VR
Nat Rev Urol 2023 Jul;20(7):434-451. Epub 2023 Apr 5 doi: 10.1038/s41585-023-00754-x. PMID: 37020056
Li P, Brown S, Williams M, White T, Xie W, Cui W, Peker D, Lei L, Kunder CA, Wang HY, Murray SS, Vagher J, Kovacsovics T, Patel JL
Blood 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135. PMID: 35671390Free PMC Article
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
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
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

Therapy

Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Kojima Y, Yokoya S, Kurita N, Idaka T, Ishikawa T, Tanaka H, Ezawa Y, Ohto H
Fukushima J Med Sci 2019;65(3):76-98. doi: 10.5387/fms.2019-22. PMID: 31915325Free PMC Article
AlSiraj Y, Chen X, Thatcher SE, Temel RE, Cai L, Blalock E, Katz W, Ali HM, Petriello M, Deng P, Morris AJ, Wang X, Lusis AJ, Arnold AP, Reue K, Thompson K, Tso P, Cassis LA
Nat Commun 2019 Jun 14;10(1):2631. doi: 10.1038/s41467-019-10462-z. PMID: 31201301Free PMC Article
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
Swerdloff RS, Overstreet JW, Sokol RZ, Rajfer J
Ann Intern Med 1985 Dec;103(6 ( Pt 1)):906-19. doi: 10.7326/0003-4819-103-6-906. PMID: 3904561

Prognosis

Kvam JM, Nybo ML, Torz L, Sustarsic RK, Jensen KHR, Nielsen JE, Frederiksen H, Gadgaard S, Spiess K, Poulsen SS, Thomsen JS, Cowin P, Blomberg Jensen M, Kurita T, Rosenkilde MM
BMC Biol 2024 Apr 8;22(1):77. doi: 10.1186/s12915-024-01873-6. PMID: 38589878Free PMC Article
Chiba K, Ramasamy R, Lamb DJ, Lipshultz LI
Asian J Androl 2016 Mar-Apr;18(2):276-81. doi: 10.4103/1008-682X.167724. PMID: 26698233Free PMC Article
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
Odrzywolski KJ, Mukhopadhyay S
Arch Pathol Lab Med 2010 Apr;134(4):630-3. doi: 10.5858/134.4.630. PMID: 20367315
Yanase T, Imai T, Simpson ER, Waterman MR
J Steroid Biochem Mol Biol 1992 Dec;43(8):973-9. doi: 10.1016/0960-0760(92)90325-D. PMID: 22217842

Clinical prediction guides

Gentiluomo M, Luddi A, Cingolani A, Fornili M, Governini L, Lucenteforte E, Baglietto L, Piomboni P, Campa D
Int J Mol Sci 2021 Apr 12;22(8) doi: 10.3390/ijms22083959. PMID: 33921254Free PMC Article
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
van der Straaten S, Springer A, Zecic A, Hebenstreit D, Tonnhofer U, Gawlik A, Baumert M, Szeliga K, Debulpaep S, Desloovere A, Tack L, Smets K, Wasniewska M, Corica D, Calafiore M, Ljubicic ML, Busch AS, Juul A, Nordenström A, Sigurdsson J, Flück CE, Haamberg T, Graf S, Hannema SE, Wolffenbuttel KP, Hiort O, Ahmed SF, Cools M
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz142. PMID: 31665438
Sinclair AW, Cao M, Baskin L, Cunha GR
Differentiation 2016 Jan-Mar;91(1-3):1-18. Epub 2016 Jan 20 doi: 10.1016/j.diff.2016.01.004. PMID: 26810244Free PMC Article
Pohl HG, Belman AB
Curr Pediatr Rev 2014;10(2):123-32. doi: 10.2174/157339631002140513102152. PMID: 25088266

Recent systematic reviews

Van Batavia JP, Kolon TF
J Pediatr Urol 2016 Dec;12(6):418-425. Epub 2016 Nov 3 doi: 10.1016/j.jpurol.2016.09.015. PMID: 27856173

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