U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Reconstruction of penoscrotal transposition.
Germiyanoğlu C, Ozkardeş H, Altuğ U, Erol D
Br J Urol 1994 Feb;73(2):200-3. doi: 10.1111/j.1464-410x.1994.tb07493.x. PMID: 8131025

Diagnosis

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
When hormone defects cannot explain it: malformative disorders of sex development.
Grinspon RP, Rey RA
Birth Defects Res C Embryo Today 2014 Dec;102(4):359-73. Epub 2014 Dec 3 doi: 10.1002/bdrc.21086. PMID: 25472912
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
A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.
Villarreal DD, Villarreal H, Paez AM, Peppas D, Lynch J, Roeder E, Powers GC
Am J Med Genet A 2013 Dec;161A(12):3121-5. Epub 2013 Oct 2 doi: 10.1002/ajmg.a.36086. PMID: 24115482
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
Correction of incomplete penoscrotal transposition by a modified Glenn-Anderson technique.
Saleh A
Afr J Paediatr Surg 2010 Sep-Dec;7(3):181-4. doi: 10.4103/0189-6725.70422. PMID: 20859026
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

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
One-stage correction of proximal hypospadias and penoscrotal transposition.
Chen SC, Yang SS, Hsieh CH, Wang CC, Chen YT
J Formos Med Assoc 2002 Jan;101(1):48-51. PMID: 11911037
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...