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Abnormal male internal genitalia morphology

MedGen UID:
1815043
•Concept ID:
C5706136
•
Anatomical Abnormality
Synonym: Abnormality of male internal genitalia
 
HPO: HP:0000022

Definition

An abnormality of the male internal genitalia. [from HPO]

Professional guidelines

PubMed

Ovotesticular Difference of Sex Development: Genetic Background, Histological Features, and Clinical Management.
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
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
Prenatal diagnosis of 48,XYY, +21 ascertained through ultrasound anomalies.
Gollop TR, Naccache NF, Auler-Bittencourt E, Hauschild D, Eigier A, Zveibil DK
Am J Med Genet 1991 Apr 1;39(1):76-7. doi: 10.1002/ajmg.1320390116. PMID: 1831009

Recent clinical studies

Etiology

The Role of the Appendix Testis in Normal Testicular Descent: Is There a Connection?
Zvizdic Z, Zivkovic D, Sabanovic J, Milisic E
Biomed Res Int 2018;2018:3078031. Epub 2018 Apr 23 doi: 10.1155/2018/3078031. PMID: 29850503Free PMC Article
Congenital anomalies of the urinary tract.
Pohl HG, Belman AB
Curr Pediatr Rev 2014;10(2):123-32. doi: 10.2174/157339631002140513102152. PMID: 25088266
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
Müllerian remnant malignancy.
Phalen A, Akhavan A, Hall SJ
Urology 2012 Mar;79(3):e38-9. Epub 2012 Jan 13 doi: 10.1016/j.urology.2011.11.016. PMID: 22245297
The remnant orchiectomy.
Rozanski TA, Wojno KJ, Bloom DA
J Urol 1996 Feb;155(2):712-3; discussion 714. PMID: 8558712

Diagnosis

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
Congenital anomalies of the urinary tract.
Pohl HG, Belman AB
Curr Pediatr Rev 2014;10(2):123-32. doi: 10.2174/157339631002140513102152. PMID: 25088266
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
Müllerian remnant malignancy.
Phalen A, Akhavan A, Hall SJ
Urology 2012 Mar;79(3):e38-9. Epub 2012 Jan 13 doi: 10.1016/j.urology.2011.11.016. PMID: 22245297
MR imaging of the male and female urethra.
Ryu J, Kim B
Radiographics 2001 Sep-Oct;21(5):1169-85. doi: 10.1148/radiographics.21.5.g01se121169. PMID: 11553824

Therapy

Abnormal sperm morphology is associated with sensitization to inhaled allergens.
Adamczak R, Ukleja-Sokołowska N, Pasińska M, Zielińska J, Leśny M, Dubiel M
Int J Immunopathol Pharmacol 2022 Jan-Dec;36:20587384211066718. doi: 10.1177/20587384211066718. PMID: 34984934Free 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
Testis cancer: some problems still remain unsolved.
Albers P, Bokemeyer C
World J Urol 2017 Aug;35(8):1159-1160. Epub 2017 May 16 doi: 10.1007/s00345-017-2041-5. PMID: 28509970
Syndromes and genital dysmorphology.
Aarskog D
Horm Res 1992;38 Suppl 2:82-5. doi: 10.1159/000182606. PMID: 1292988
UCLA conference. Infertility in the male.
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

The Role of the Appendix Testis in Normal Testicular Descent: Is There a Connection?
Zvizdic Z, Zivkovic D, Sabanovic J, Milisic E
Biomed Res Int 2018;2018:3078031. Epub 2018 Apr 23 doi: 10.1155/2018/3078031. PMID: 29850503Free PMC Article
One-Stage Laparoscopic Orchiopexy for the Treatment of Intraabdominal Testis.
Jawdat JR, Kocherov S, Chertin B
Isr Med Assoc J 2016 Nov;18(11):669-672. PMID: 28466616
Papillary cystadenoma of the epididymis.
Odrzywolski KJ, Mukhopadhyay S
Arch Pathol Lab Med 2010 Apr;134(4):630-3. doi: 10.5858/134.4.630. PMID: 20367315
MR imaging of the male and female urethra.
Ryu J, Kim B
Radiographics 2001 Sep-Oct;21(5):1169-85. doi: 10.1148/radiographics.21.5.g01se121169. PMID: 11553824
Adrenal fusion.
Klatt EC, Pysher TJ, Pavlova Z
Pediatr Dev Pathol 1998 Nov-Dec;1(6):475-9. doi: 10.1007/s100249900065. PMID: 9724333

Clinical prediction guides

The External Genitalia Score (EGS): A European Multicenter Validation Study.
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
One-Stage Laparoscopic Orchiopexy for the Treatment of Intraabdominal Testis.
Jawdat JR, Kocherov S, Chertin B
Isr Med Assoc J 2016 Nov;18(11):669-672. PMID: 28466616
Diversion neovaginitis after sigmoid vaginoplasty: endoscopic and clinical characteristics.
van der Sluis WB, Bouman MB, Meijerink WJHJ, Elfering L, Mullender MG, de Boer NKH, van Bodegraven AA
Fertil Steril 2016 Mar;105(3):834-839.e1. Epub 2015 Nov 26 doi: 10.1016/j.fertnstert.2015.11.013. PMID: 26632208
Congenital anomalies of the urinary tract.
Pohl HG, Belman AB
Curr Pediatr Rev 2014;10(2):123-32. doi: 10.2174/157339631002140513102152. PMID: 25088266
MR imaging of the male and female urethra.
Ryu J, Kim B
Radiographics 2001 Sep-Oct;21(5):1169-85. doi: 10.1148/radiographics.21.5.g01se121169. PMID: 11553824

Recent systematic reviews

Impact of TNF-blocking agents on male sperm characteristics and pregnancy outcomes in fathers exposed to TNF-blocking agents at time of conception.
Puchner R, Danninger K, Puchner A, Pieringer H
Clin Exp Rheumatol 2012 Sep-Oct;30(5):765-7. Epub 2012 Oct 17 PMID: 22935608

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