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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
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
Modification of the Koyanagi Technique for the Single-Stage Repair of Proximal Hypospadias.
Chen Y, Zhang J, Ji C, Liang W, Pan S, Wu B
Ann Plast Surg 2016 Jun;76(6):693-6. doi: 10.1097/SAP.0000000000000345. PMID: 27176562
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

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 lower urinary tract obstruction associated with penoscrotal transposition.
Emery SP, Schneck FX, Kauffman DE, Hill LM
Prenat Diagn 2009 Nov;29(11):1089-90. doi: 10.1002/pd.2351. PMID: 19777542

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

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
Bladder agenesis in a male neonate.
Patkowski D, Apoznański W, Szydełko T, Jaworski W, Smigiel R
J Pediatr Surg 2008 Nov;43(11):e1-3. doi: 10.1016/j.jpedsurg.2008.06.003. PMID: 18970912
Complete penoscrotal transposition and associated malformations.
Chadha R, Mann V, Sharma A, Bagga D
Pediatr Surg Int 1999;15(7):505-7. doi: 10.1007/s003830050650. PMID: 10525910
Perineal lipoma and the accessory labioscrotal fold: an etiological relationship.
Sule JD, Skoog SJ, Tank ES
J Urol 1994 Feb;151(2):475-7. doi: 10.1016/s0022-5347(17)34996-0. PMID: 8283564
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
Transposition of external genitalia and associated malformations.
Meguid NA, Temtamy SA, Mazen I
Clin Dysmorphol 2003 Jan;12(1):59-62. doi: 10.1097/00019605-200301000-00011. PMID: 12514368
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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