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Penoscrotal transposition

MedGen UID:
357036
•Concept ID:
C1868854
•
Congenital Abnormality
Synonyms: Congenital transposition of the penis; Penoscrotal transposition (disease)
SNOMED CT: Congenital penoscrotal transposition (312005008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
HPO: HP:0100600
Monarch Initiative: MONDO:0017285
Orphanet: ORPHA2842

Definition

A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis. [from HPO]

Conditions with this feature

Chromosome 13q33-q34 deletion syndrome
MedGen UID:
1744234
•Concept ID:
C5436890
•
Disease or Syndrome
Chromosome 13q33-q34 deletion syndrome is associated with developmental delay and/or impaired intellectual development, facial dysmorphism, and an increased risk for epilepsy, cardiac defects and additional anatomic anomalies (summary by Sagi-Dain et al., 2019).
See: Condition Record
Chromosome 13q33-q34 deletion syndrome

Professional guidelines

PubMed

Prenatal Diagnosis and Classification of Fetal Hypospadias: The Role and Value of Magnetic Resonance Imaging.
Li K, Zhang X, Yan G, Zheng W, Zou Y
J Magn Reson Imaging 2021 Jun;53(6):1862-1870. Epub 2021 Feb 19 doi: 10.1002/jmri.27519. PMID: 33608950
Prenatal diagnosis of penoscrotal transposition with 2- and 3-dimensional ultrasonography.
Wang Y, Cai A, Sun J, Li T, Wang B, Li J
J Ultrasound Med 2011 Oct;30(10):1397-401. doi: 10.7863/jum.2011.30.10.1397. PMID: 21968491

Recent clinical studies

Etiology

Penoscrotal transposition: Long-term outcome in 29 patients.
Perez D, Kocherov S, Jaber G, Raisin G, Chertin B
Arch Ital Urol Androl 2024 Oct 2;96(3):12899. doi: 10.4081/aiua.2024.12899. PMID: 39356009
Ectopias of the kidney, urinary tract organs, and male genitalia.
Mikuz G
Pathologe 2019 Jun;40(Suppl 1):1-8. doi: 10.1007/s00292-018-0505-z. PMID: 30446779
Spectrum of penoscrotal positional anomalies in children.
Fahmy MA, El Shennawy AA, Edress AM
Int J Surg 2014;12(9):983-8. Epub 2014 Aug 8 doi: 10.1016/j.ijsu.2014.08.001. PMID: 25110332
Genetic and molecular aspects of hypospadias.
Utsch B, Albers N, Ludwig M
Eur J Pediatr Surg 2004 Oct;14(5):297-302. doi: 10.1055/s-2004-821275. PMID: 15543478
Results of single staged hypospadias surgery to repair penoscrotal hypospadias with bifid scrotum or penoscrotal transposition.
DeFoor W, Wacksman J
J Urol 2003 Oct;170(4 Pt 2):1585-8; discussion 1588. doi: 10.1097/01.ju.0000084141.51617.1b. PMID: 14501667

Diagnosis

New classification of the penoscrotal positional anomalies.
Baky Fahmy MA, Altramsy A, Ayad MAM
Birth Defects Res 2024 Jul;116(7):e2376. doi: 10.1002/bdr2.2376. PMID: 39001683
Klinefelter syndrome with penoscrotal transposition and diphallia: A case study.
Kawakami Y, Sawano K, Shibata N, Kaneko T, Nagasaki K
Congenit Anom (Kyoto) 2023 Jul;63(4):125-126. Epub 2023 Apr 15 doi: 10.1111/cga.12517. PMID: 37060306
Prenatal Diagnosis and Classification of Fetal Hypospadias: The Role and Value of Magnetic Resonance Imaging.
Li K, Zhang X, Yan G, Zheng W, Zou Y
J Magn Reson Imaging 2021 Jun;53(6):1862-1870. Epub 2021 Feb 19 doi: 10.1002/jmri.27519. PMID: 33608950
Prenatal diagnosis of complete penoscrotal transposition with normal scrotum: Two case reports and review of the literature.
Kurt D, Sivrikoz TS, Kalelioğlu Hİ, Has R, Ziylan HO, Yüksel A
J Clin Ultrasound 2020 Jul;48(6):350-356. Epub 2020 Apr 22 doi: 10.1002/jcu.22834. PMID: 32319694
Prenatal diagnosis of penoscrotal transposition with 2- and 3-dimensional ultrasonography.
Wang Y, Cai A, Sun J, Li T, Wang B, Li J
J Ultrasound Med 2011 Oct;30(10):1397-401. doi: 10.7863/jum.2011.30.10.1397. PMID: 21968491

Therapy

Keloid formation after pediatric male genital surgeries: an uncommon and difficult problem to manage.
Alyami F, Ferandez N, Koyle MA, Salle JP
J Pediatr Urol 2019 Feb;15(1):48.e1-48.e8. Epub 2018 Aug 8 doi: 10.1016/j.jpurol.2018.08.003. PMID: 30206024
Further analysis of the Glans-Urethral Meatus-Shaft (GMS) hypospadias score: correlation with postoperative complications.
Arlen AM, Kirsch AJ, Leong T, Broecker BH, Smith EA, Elmore JM
J Pediatr Urol 2015 Apr;11(2):71.e1-5. Epub 2015 Feb 26 doi: 10.1016/j.jpurol.2014.11.015. PMID: 25797855
Z-plasty for sculpturing of the bifid scrotum in severe hypospadias associated with penoscrotal transposition.
Mokhless I, Youssif M, Eltayeb M, Hanna M
J Pediatr Urol 2011 Jun;7(3):305-9. Epub 2011 Apr 27 doi: 10.1016/j.jpurol.2011.02.023. PMID: 21527222
Our 21-year experience with the Thiersch-Duplay technique following surgical correction of penoscrotal transposition.
Sunay M, Emir L, Karabulut A, Erol D
Urol Int 2009;82(1):28-3; discussion 31. Epub 2009 Jan 20 doi: 10.1159/000176021. PMID: 19172093
The Koyanagi-Nonomura 1-stage bucket repair of severe hypospadias with and without penoscrotal transposition.
Glassberg KI, Hansbrough F, Horowitz M
J Urol 1998 Sep;160(3 Pt 2):1104-7; discussion 1137. doi: 10.1097/00005392-199809020-00038. PMID: 9719286

Prognosis

Penoscrotal transposition: Long-term outcome in 29 patients.
Perez D, Kocherov S, Jaber G, Raisin G, Chertin B
Arch Ital Urol Androl 2024 Oct 2;96(3):12899. doi: 10.4081/aiua.2024.12899. PMID: 39356009
Proximal Hypospadias and Acquired Cryptorchidism: Incidence, Morphology and Potential Clinical Implications.
D'Oro A, Rosoklija I, Yerkes EB, Lindgren BW, Rychlik K, Cheng EY
J Urol 2021 Nov;206(5):1291-1299. Epub 2021 Jul 12 doi: 10.1097/JU.0000000000001944. PMID: 34251872
Ectopias of the kidney, urinary tract organs, and male genitalia.
Mikuz G
Pathologe 2019 Jun;40(Suppl 1):1-8. doi: 10.1007/s00292-018-0505-z. PMID: 30446779
Results of single staged hypospadias surgery to repair penoscrotal hypospadias with bifid scrotum or penoscrotal transposition.
DeFoor W, Wacksman J
J Urol 2003 Oct;170(4 Pt 2):1585-8; discussion 1588. doi: 10.1097/01.ju.0000084141.51617.1b. PMID: 14501667
Penoscrotal transposition: a case report and review.
MacKenzie J, Chitayat D, McLorie G, Balfe JW, Pandit PB, Blecher SR
Am J Med Genet 1994 Jan 1;49(1):103-7. doi: 10.1002/ajmg.1320490120. PMID: 8172235

Clinical prediction guides

Repair of the Bulbospongiosus Muscle to Suspend the Penis to the Pubic Bones in Proximal Hypospadias.
Hennayake S, Gopal M, Seleim HM, Cserni T, Hajduk P, Ajao A, Bianchi A
J Pediatr Surg 2025 Feb;60(2):162074. Epub 2024 Nov 24 doi: 10.1016/j.jpedsurg.2024.162074. PMID: 39693725
Penoscrotal transposition: Long-term outcome in 29 patients.
Perez D, Kocherov S, Jaber G, Raisin G, Chertin B
Arch Ital Urol Androl 2024 Oct 2;96(3):12899. doi: 10.4081/aiua.2024.12899. PMID: 39356009
Proximal Hypospadias and Acquired Cryptorchidism: Incidence, Morphology and Potential Clinical Implications.
D'Oro A, Rosoklija I, Yerkes EB, Lindgren BW, Rychlik K, Cheng EY
J Urol 2021 Nov;206(5):1291-1299. Epub 2021 Jul 12 doi: 10.1097/JU.0000000000001944. PMID: 34251872
Prenatal Diagnosis and Classification of Fetal Hypospadias: The Role and Value of Magnetic Resonance Imaging.
Li K, Zhang X, Yan G, Zheng W, Zou Y
J Magn Reson Imaging 2021 Jun;53(6):1862-1870. Epub 2021 Feb 19 doi: 10.1002/jmri.27519. PMID: 33608950
Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature.
Parida SK, Hall BD, Barton L, Fujimoto A
Am J Med Genet 1995 Oct 23;59(1):68-75. doi: 10.1002/ajmg.1320590115. PMID: 8849015

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