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Transposição peno-escrotal
ORPHA:2842CID-10 · Q55.8CID-11 · LB5YDOENÇA RARA

A transposição penoescrotal (PST) é uma anomalia genital congênita rara em que o escroto está posicionado superior e anterior ao pênis. O PST pode apresentar um amplo espectro de anomalias que vão desde um simples escroto xale (escroto em forma de donut) até uma transposição extrema muito complexa com malformações craniofaciais, do sistema nervoso central, cardíacas, gastrointestinais, urológicas e outras malformações genitais (testículos que não desceram, hipospádia, cordee). Deficiência de crescimento e deficiência intelectual também podem ser observadas (60% dos casos).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A transposição penoescrotal (PST) é uma anomalia genital congênita rara em que o escroto está posicionado superior e anterior ao pênis. O PST pode apresentar um amplo espectro de anomalias que vão desde um simples escroto xale (escroto em forma de donut) até uma transposição extrema muito complexa com malformações craniofaciais, do sistema nervoso central, cardíacas, gastrointestinais, urológicas e outras malformações genitais (testículos que não desceram, hipospádia, cordee). Deficiência de crescimento e deficiência intelectual também podem ser observadas (60% dos casos).

Publicações científicas
143 artigos
Último publicado: 2026 Mar 6

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q55.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
4 sintomas
😀
Face
3 sintomas
🧠
Neurológico
1 sintomas
❤️
Coração
1 sintomas
🫘
Rins
1 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

90%prev.
Distância intermamilar ampla
Muito frequente (99-80%)
90%prev.
Displasia renal
Muito frequente (99-80%)
90%prev.
Anormalidade do ureter
Muito frequente (99-80%)
90%prev.
Atrofia cortical cerebral
Muito frequente (99-80%)
90%prev.
Anormalidade do sistema genital
Muito frequente (99-80%)
90%prev.
Micrognatia
Muito frequente (99-80%)
20sintomas
Muito frequente (15)
Frequente (4)
Ocasional (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.

Distância intermamilar amplaWide intermamillary distance
Muito frequente (99-80%)90%
Displasia renalRenal dysplasia
Muito frequente (99-80%)90%
Anormalidade do ureterAbnormality of the ureter
Muito frequente (99-80%)90%
Atrofia cortical cerebralCerebral cortical atrophy
Muito frequente (99-80%)90%
Anormalidade do sistema genitalAbnormality of the genital system
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico143PubMed
Últimos 10 anos54publicações
Pico202111 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Transposição peno-escrotal

🗺️

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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
53 papers (10 anos)
#1

First-stage procedure for proximal hypospadias with penile encasement/scrotal transposition (PEST) deformity.

Journal of pediatric urology2026 Mar 06

We hereby report Curvature correction, Lateral foreskin Approximation & Scrotal Switch (CLASS) procedure as a first-stage of Penile encasement/scrotal transposition (PEST) deformity & proximal-hypospadias. At first stage, the encased penis was released by making two inverted "U" shaped incisions on either side of two hemi scrota; the dorsal foreskin was left attached to glans; lateral foreskin flaps, straightened at the coronal sulcus, were approximated in the midline after chordee correction. Fifteen patients with perineal hypospadias & PEST deformity underwent CLASS procedure and second stage with good success. Further large prospective studies are essential to validate this procedure.

#2

Evaluation of penoscrotal transposition associated with complex hypospadias and concealed penis: Photographically controlled analysis of surgically treated patients and proposal of a novel classification (The Corrêa-Macedo classification).

Journal of pediatric urology2026 Feb 11

This study aimed to propose and validate a novel classification for penoscrotal transposition and estimate the frequency of its different degrees in patients with complex hypospadias, buried penis, and in controls. This was a retrospective, descriptive, longitudinal study of consecutive cases, based on standardized photographic evaluation of patients operated between 2010 and 2021. The study included 23 patients with complex hypospadias and 50 patients with buried penis. Additionally, a prospective control group of 90 children without genital anomalies was analyzed. The proposed classification was compared to existing systems using appropriate statistical tests, validated by expert reviewers, and subsequently applied to the clinical subgroups and the control group. We demonstrated an accuracy of 87.1 %, significantly higher than that of previously established methods (p < 0.0001). Moderate penoscrotal transposition predominated among patients with buried penis (68 %), while severe transposition was more frequent in cases of complex hypospadias (60.9 %). In the control group, mild (41.1 %) and moderate (33.3 %) forms of transposition were observed, even in the absence of diagnosed genital anomalies. The predominance of moderate and severe forms among surgical patients reinforces the etiopathogenic association between penoscrotal transposition, complex hypospadias, and buried penis. The presence of varying degrees of transposition in children without genital anomalies highlights the need for systematic evaluation of scrotal positioning in children and question what is "the normal scrotal insertion" in the general population.

#3

Single-stage Reconstruction of Bifid Scrotum and Penoscrotal Transposition without Hypospadias and Chordee with Modified Glenn-Anderson Technique: A Case Report.

Journal of plastic and reconstructive surgery2026 Jan 27

Bifid scrotum and penoscrotal transposition are rare congenital scrotal anomalies. Cases diagnosed without hypospadias and chordee are uncommon. We present a rare case of bifid scrotum and incomplete penoscrotal transposition without hypospadias and chordee in a 10-year-old patient. Examination revealed an incomplete transposition of the external genitalia, with the scrotum bifid along the scrotal raphe. The hypoplastic penis was buried at the midpoint of the scrotum. Intraoperatively, no hypospadias or chordee was identified. Single-stage scrotal reconstruction was performed with the modified Glenn-Anderson technique. Post-operatively, the patient recuperated well, with minimal edema. Bifid scrotum and penoscrotal transposition may exhibit broad clinical variations. Different surgical techniques with single- or multiple-stage reconstruction may be performed to achieve good functional and cosmetic outcomes. The modified Glenn-Anderson technique is a feasible single-stage scrotal reconstruction procedure that enables the repair of hypospadias and chordee in the same setting. The post-operative swelling and aesthetic results are acceptable.

#4

Commentary on "A case report of complete penoscrotal transposition and associated anomalies in a newborn" by Nsaho et al.

International journal of surgery case reports2026 Mar
#5

A case report of complete penoscrotal transposition and associated anomalies in a newborn.

International journal of surgery case reports2025 Dec

Penoscrotal transposition is a rare congenital abnormality in which the scrotum is positioned above the penis. It results from the disrupted development of the genital tubercle and labioscrotal folds. The exact embryological errors are not fully understood, but they may arise from a failure in their migration and fusion around 12 weeks of gestation. A term male newborn was referred 4 h after birth due to respiratory distress, abnormal genitalia, and failure to pass meconium or urine. He had pulmonary hypertension, early-onset neonatal sepsis, complete penoscrotal transposition, and possibly an anorectal malformation. Evaluation showed elevated creatinine, hyperkalaemia, leucocytosis, and severe pulmonary hypertension. Despite supportive care-including antibiotics, fluids, correction of hyperkalaemia, and sildenafil-he deteriorated and died before surgery. The final diagnosis was a complex congenital anomaly, sepsis, and multiorgan failure leading to death. Persistent scrotal transposition is associated with midline defects, including anorectal, cardiac, and gonadal anomalies. Early prenatal imaging and thorough postnatal assessments-such as echocardiography, renal imaging, and genetic testing-are essential. The complexity of this anomaly requires organised, multidisciplinary management. By focusing on key investigations and prompt interventions, even with limited resources, outcomes can be enhanced and future diagnostic and prognostic strategies improved. A rare complete penoscrotal transposition with multiple anomalies and sepsis highlights the importance of multidisciplinary care and enhanced antenatal screening.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC70 artigos no totalmostrando 54

2026

First-stage procedure for proximal hypospadias with penile encasement/scrotal transposition (PEST) deformity.

Journal of pediatric urology
2026

Commentary on "A case report of complete penoscrotal transposition and associated anomalies in a newborn" by Nsaho et al.

International journal of surgery case reports
2026

Evaluation of penoscrotal transposition associated with complex hypospadias and concealed penis: Photographically controlled analysis of surgically treated patients and proposal of a novel classification (The Corrêa-Macedo classification).

Journal of pediatric urology
2026

Single-stage Reconstruction of Bifid Scrotum and Penoscrotal Transposition without Hypospadias and Chordee with Modified Glenn-Anderson Technique: A Case Report.

Journal of plastic and reconstructive surgery
2025

A case report of complete penoscrotal transposition and associated anomalies in a newborn.

International journal of surgery case reports
2025

A rare case of complex perineal anomaly in a male neonate: Multistage surgical management.

Urology case reports
2025

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.

American journal of medical genetics. Part A
2025

The short-term efficacy of modified plate reconstruction and tubularization urethroplasty for posterior hypospadias.

Journal of pediatric urology
2025

Repair of the Bulbospongiosus Muscle to Suspend the Penis to the Pubic Bones in Proximal Hypospadias.

Journal of pediatric surgery
2024

Penoscrotal transposition: Long-term outcome in 29 patients.

Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica
2024

New classification of the penoscrotal positional anomalies.

Birth defects research
2024

Burden of Delayed Circumcision on Healthcare Systems: a Retrospective Study.

Medical archives (Sarajevo, Bosnia and Herzegovina)
2024

An epidemiologic study of penoscrotal transposition by maternal characteristics using data from the Texas birth defects registry.

Birth defects research
2023

Patient Perspectives and Outcomes in Adult Hypospadias Repair.

Cureus
2023

Klinefelter syndrome with penoscrotal transposition and diphallia: A case study.

Congenital anomalies
2023

The Role of Tissue Expanders in the Reconstruction of Proximal Hypospadias.

Urology
2023

Ectopic scrotum and penoscrotal transposition: Case report and literature review.

Frontiers in pediatrics
2022

Evaluation of tunica vaginalis flap-covering combined with modified Glenn-Anderson in one-stage repair of proximal hypospadias with incomplete penoscrotal transposition.

Frontiers in pediatrics
2022

Analysis of factors associated with postoperative complications after primary hypospadias repair: a retrospective study.

Translational andrology and urology
2022

Cloaca-Like Anomalies in the Male: A Report on Two Cases.

European journal of pediatric surgery reports
2022

Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report.

Clinical case reports
2022

Clinical characteristics, socioeconomic factors and COVID-19 were associated with delayed surgery in children with hypospadias: a retrospective study of 4439 cases in a single center.

European journal of medical research
2022

[Effectiveness of penis up transfer method for penoscrotal transposition in children].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2022

46 XY disorder of sex development (DSD) due to 5 alpha (SRD5A2) deficiency - Experience from a multidisciplinary Pediatric Gender Clinic.

Journal of pediatric urology
2021

Surgical Correction of True Diphallia in a Newborn Male.

Urology
2021

Proximal Hypospadias and Acquired Cryptorchidism: Incidence, Morphology and Potential Clinical Implications.

The Journal of urology
2021

A different approach to distal hypospadias repair: The GUD (glandular urethral disassembly) technique.

Journal of pediatric urology
2021

Complete Penoscrotal Transposition with Other Extragenital Anomalies in a Neonate Delivered at Term.

Case reports in urology
2021

Bladder Agenesis and Bilateral Ectopic Ureters in an Infant Male With Cystic Renal Dysplasia, Imperforate Anus, and Penoscrotal Transposition.

Urology
2021

Prenatal Diagnosis and Classification of Fetal Hypospadias: The Role and Value of Magnetic Resonance Imaging.

Journal of magnetic resonance imaging : JMRI
2021

True partial diphallia with associated penoscrotal transposition of two hemi-scrotums.

Radiology case reports
2021

Long-Term Undesirable Consequences of Penile Skin Island Flap to Correct Penoescrotal Transposition: A Case Report and Review of Literature.

Case reports in urology
2021

Megaprepuce: A New Surgical Technique with Excellent Cosmetic and Functional Results.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2021

MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent.

American journal of medical genetics. Part A
2021

A simple way to treat penile concealing due to webbed penis.

International braz j urol : official journal of the Brazilian Society of Urology
2020

Prenatal diagnosis of complete penoscrotal transposition with normal scrotum: Two case reports and review of the literature.

Journal of clinical ultrasound : JCU
2019

Mid- to long-term outcomes of the 'anatomical approach' to congenital megaprepuce repair.

Journal of pediatric urology
2019

Ectopias of the kidney, urinary tract organs, and male genitalia.

Der Pathologe
2018

Incidence and diagnoses of disorders of sex development in proximal hypospadias.

Journal of pediatric surgery
2019

Keloid formation after pediatric male genital surgeries: an uncommon and difficult problem to manage.

Journal of pediatric urology
2019

A Patient with Third Corpus Cavernosum, Severe Penile Ventral Deviation and Partial Peno-scrotal Transposition: First Worldwide Report.

Urologia internationalis
2018

[Ectopias of the kidney, urinary tract organs, and male genitalia. German version.].

Der Pathologe
2018

Penoscrotal Transposition to Achieve Urethral Continuity After Long-Segment Urethral Defect: A Case Report.

American journal of men's health
2018

Can sacral development as a marker for caudal regression help identify associated urologic anomalies in patients with anorectal malformation?

Journal of pediatric surgery
2018

Proximal Hypospadias and a Novel WT1 Variant: When Should Genetic Testing Be Considered?

Pediatrics
2017

A rare case of complete penoscrotal transposition with hypospadias in a newborn.

Turkish journal of obstetrics and gynecology
2017

Surgical correction of ectopic penis and scrotum associated with bilateral orchidopexy.

Einstein (Sao Paulo, Brazil)
2016

[Plasty method for penoscrotal transposition].

Zhonghua zheng xing wai ke za zhi = Zhonghua zhengxing waike zazhi = Chinese journal of plastic surgery
2016

Modification of the Koyanagi Technique for the Single-Stage Repair of Proximal Hypospadias.

Annals of plastic surgery
2016

A New Modification of the Koyanagi Technique for the One-stage Repair of Severe Hypospadias.

Urology
2014

The contemporary role of 1 vs. 2-stage repair for proximal hypospadias.

Translational andrology and urology
2016

Prenatal Features of Bladder Agenesis in a Female Fetus with Genital Transposition.

Fetal and pediatric pathology
2015

Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature.

Canadian Urological Association journal = Journal de l'Association des urologues du Canada
2015

Further analysis of the Glans-Urethral Meatus-Shaft (GMS) hypospadias score: correlation with postoperative complications.

Journal of pediatric urology
Ver todos os 70 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. First-stage procedure for proximal hypospadias with penile encasement/scrotal transposition (PEST) deformity.
    Journal of pediatric urology· 2026· PMID 41864840mais citado
  2. Evaluation of penoscrotal transposition associated with complex hypospadias and concealed penis: Photographically controlled analysis of surgically treated patients and proposal of a novel classification (The Corr&#xea;a-Macedo classification).
    Journal of pediatric urology· 2026· PMID 41762993mais citado
  3. Single-stage Reconstruction of Bifid Scrotum and Penoscrotal Transposition without Hypospadias and Chordee with Modified Glenn-Anderson Technique: A Case Report.
    Journal of plastic and reconstructive surgery· 2026· PMID 41631023mais citado
  4. Commentary on "A case report of complete penoscrotal transposition and associated anomalies in a newborn" by Nsaho et al.
    International journal of surgery case reports· 2026· PMID 41837110mais citado
  5. A case report of complete penoscrotal transposition and associated anomalies in a newborn.
    International journal of surgery case reports· 2025· PMID 41541174mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2842(Orphanet)
  2. MONDO:0017285(MONDO)
  3. GARD:4273(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55786963(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Transposição peno-escrotal
Compêndio · Raras BR

Transposição peno-escrotal

ORPHA:2842 · MONDO:0017285
Prevalência
Unknown
Herança
Autosomal recessive, Not applicable, X-linked recessive
CID-10
Q55.8 · Outras malformações congênitas especificadas dos órgãos genitais masculinos
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1868854
EuropePMC
Wikidata
Papers 10a
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