RESUMO
BACKGROUND: Testicular descent is a physiological process regulated by many factors. Eventually, disturbances in the embryological/fetal development path facilitate the occurrence of scrotal hernia, a congenital malformation characterized by the presence of intestinal portions within the scrotal sac due to the abnormal expansion of the inguinal ring. In pigs, some genes have been related to this anomaly, but the genetic mechanisms involved remain unclear. This study aimed to investigate the expression profile of a set of genes potentially involved with the manifestation of scrotal hernia in the inguinal ring tissue. METHODS AND RESULTS: Tissue samples from the inguinal ring/canal of normal and scrotal hernia-affected male pigs with approximately 30 days of age were used. Relative expression analysis was performed using qPCR to confirm the expression profile of 17 candidate genes previously identified in an RNA-Seq study. Among them, the Myosin heavy chain 1 (MYH1), Desmin (DES), and Troponin 1 (TNNI1) genes were differentially expressed between groups and had reduced levels of expression in the affected animals. These genes encode proteins involved in the formation of muscle tissue, which seems to be important for increasing the resistance of the inguinal ring to the abdominal pressure, which is essential to avoid the occurrence of scrotal hernia. CONCLUSIONS: The downregulation of muscular candidate genes in the inguinal tissue clarifies the genetic mechanisms involved with this anomaly in its primary site, providing useful information for developing strategies to control this malformation in pigs and other mammals.
Assuntos
Regulação para Baixo , Escroto , Animais , Masculino , Suínos/genética , Escroto/metabolismo , Escroto/anormalidades , Escroto/patologia , Regulação para Baixo/genética , Hérnia Inguinal/genética , Hérnia Inguinal/metabolismo , Hérnia Inguinal/veterinária , Perfilação da Expressão Gênica/métodos , Doenças dos Suínos/genética , Doenças dos Suínos/metabolismo , Cadeias Pesadas de Miosina/genética , Cadeias Pesadas de Miosina/metabolismoRESUMO
BACKGROUND: The aspect of sexual differentiation and the mechanism controlling the position of genitalia, which represents one of the most substantial differences between the sexes, is still poorly understood. Minor cases and some variants of penoscrotal transposition (PST) are unreported, and obvious cases were classified broadly and confused with other unrelated anomalies. METHODOLOGY: Relevant literature published till 2022 were reviewed then organized, recapitulated, and presented in comparison with the findings and data of 65 child diagnosed with PST. So, an integrated comprehensive approach to this uncommon condition enabled a new classification including few unreported variant cases, which were complemented. RESULTS: PST is classified herein into a cephalic or caudal scrotal migration, the cephalic type subdivided into major and minor subtypes the latter type subdivided into bilateral, unilateral or central subtypes. Cases of caudal scrotal regression is an unreported anomaly in which the scrotum located caudally, as constant association with epispadias/exstrophy anomalies leaving a wide distance between the fixed penis and the scrotal sacs. CONCLUSION: PST is not rare as it was believed, it occurs in two directions; cephalic and caudal directions. Scrotal caudal regression anomaly was not described before, as well the PST presented as an inguinal hernia.
Assuntos
Pênis , Escroto , Humanos , Masculino , Escroto/anormalidades , Pênis/anormalidades , Pênis/anatomia & histologia , Criança , Epispadia/classificação , Hérnia Inguinal/classificação , Anormalidades Múltiplas , Doenças UretraisRESUMO
OBJECTIVES: To describe a new penoscrotal reconfiguration technique, named "V-I penoscrotal reconfiguration" for the surgical reconstruction of a congenital webbed penis (CWP). METHODS: Twenty-one patients who underwent the "V-I penoscrotal reconfiguration technique" were included in this retrospective study. The CWP severity was assessed according to El-Koutby's classification. Demographic and clinical data, surgical data, and postoperative outcomes were scheduled and analyzed. Specifically, the postoperative follow-up included both physical and psychological assessments at 2 weeks, 1, 6, and 12 months after surgery. Parents' satisfaction degree was quantified by the Likert scale. RESULTS: CWP was grade 3 in 11 (52%) patients, 2 in five (24%), and 1 (24%) in five. Five (24%) CWP were isolated malformations, 11 (52%) were associated with phimosis, three (14%) with hypospadias, and two (10%) with hypospadias and phimosis. There were no postoperative complications and no cases of redo surgery. The cosmetic outcomes were excellent in all cases: the parents' satisfaction score was 4 in 17 (81%) cases and 3 (9%) in the other four cases. CONCLUSIONS: CWP may cause psychological distress and functional problems, especially during sexual intercourse. Its correction in childhood is advocated to prevent psychological and sexual issues. The "V-I reconfiguration technique" is simple, and easy with excellent cosmetic and functional outcomes.
Assuntos
Satisfação do Paciente , Pênis , Procedimentos de Cirurgia Plástica , Escroto , Procedimentos Cirúrgicos Urológicos Masculinos , Humanos , Masculino , Estudos Retrospectivos , Pênis/cirurgia , Pênis/anormalidades , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Escroto/cirurgia , Escroto/anormalidades , Pré-Escolar , Procedimentos de Cirurgia Plástica/métodos , Criança , Resultado do Tratamento , Lactente , Hipospadia/cirurgia , Hipospadia/psicologia , Seguimentos , AdolescenteRESUMO
BACKGROUND: Penoscrotal transposition (PST) is an uncommon urogenital malformation in which the penis is mal-positioned to be inferior to the scrotum. The purpose of this study was to explore PST risk by maternal characteristics and to describe co-occurring congenital abnormalities in the Texas Birth Defects Registry (TBDR). METHODS: We conducted a population-based descriptive study examining occurrence of PST in the TBDR between 1999 and 2019. The primary outcome variable was PST diagnosis during infancy. Descriptive variables included maternal age, education, and race/ethnicity. Prevalence ratios (PRs) were calculated within each maternal variable category using Poisson regression. Counts and percentages of cases with select co-occurring congenital abnormalities were also calculated. RESULTS: Overall, 251 infants had PST, providing a prevalence of 0.61/10,000 live male births (95% CI: 0.53-0.68). PST prevalence was significantly lower among infants of mothers who had lower educational attainment (
Assuntos
Anormalidades Múltiplas , Escroto , Doenças Uretrais , Anormalidades Urogenitais , Lactente , Feminino , Humanos , Masculino , Escroto/anormalidades , Texas/epidemiologia , Pênis/anormalidades , Estudos Epidemiológicos , Sistema de RegistrosRESUMO
Abnormalities of the bovine scrotum and testes are an important cause of infertility. Proper evaluation of the male reproductive system is a critical first step in screening for such abnormalities. Excessive periscrotal fat, cutaneous scrotal defects, and unilateral scrotal swelling are common deformities that warrant further investigation. Early diagnosis and surgical intervention are often needed to restore reproductive soundness. This article reviews these conditions and provides therapeutic modalities.
Assuntos
Doenças dos Bovinos , Criptorquidismo , Infertilidade , Masculino , Animais , Bovinos , Escroto/anormalidades , Escroto/cirurgia , Criptorquidismo/diagnóstico , Criptorquidismo/cirurgia , Criptorquidismo/veterinária , Infertilidade/veterinária , Reprodução , Doenças dos Bovinos/diagnósticoRESUMO
Ectopic scrotum is an infrequent congenital scrotal anomaly. Different surgical methods of correcting ectopic scrotum have been used, but none have produced optimal cosmetic results for all types. We describe a case of left ectopic suprainguinal scrotum in a 14-month-old boy who had an undescended left testicle and a left-sided scrotal skin tag. Single-stage rotational flap scrotoplasty and unilateral orchiopexy were performed; however, we modified the surgical technique of scrotal rotation by excising the intervening longitudinal skin. Eight months after surgery, the repositioned scrotum had a better appearance, and the affected testicle was similar in size to the contralateral one. In comparison with other surgical methods, pedicle flap rotation of the ectopic scrotal skin with excision of the intervening longitudinal skin may produce a better cosmetic outcome.
Assuntos
Criptorquidismo , Procedimentos de Cirurgia Plástica , Masculino , Humanos , Lactente , Escroto/cirurgia , Escroto/anormalidades , Retalhos Cirúrgicos , Criptorquidismo/cirurgiaRESUMO
Objective: To investigate the effectiveness of penile up transfer method in the treatment of penoscrotal transposition (PST) in children. Methods: A clinical data of 46 children with PST admitted between January 2015 and March 2021 and met selective criteria was retrospectively analyzed. The M-shaped scrotal flap method was adopted in 21 cases (group A), and the penile up transfer method was adopted in 25 cases (group B). There was no significant difference in age and PST typing between the two groups ( t=0.491, P=0.626; χ 2=0.710, P=0.790). The operation time and postoperative complications of the two groups were recorded and compared, and the correction effect of PST was evaluated. Results: All operations were successfully completed, and no urethral injury occurred during operation. The operation time was significantly less in group B than in group A [(70.36±9.76) minutes vs. (96.62±13.18) minutes; t=7.553, P=0.000]. All children were followed up 6-33 months (mean, 13.2 months). There were 5 cases (23.8%) of skin necrosis and 6 cases (28.6%) of scar hyperplasia in group A, and 1 case (4.0%) of skin necrosis and 1 case (4.0%) of scar hyperplasia in group B. The incidence of complication was significantly lower in group B than in group A ( χ 2=3.949, P=0.047; χ 2=5.341, P=0.021). In the evaluation of PST correction at 6 months after operation, there were 15 cases of complete correction and 6 cases of incomplete correction in group A, 24 cases of complete correction and 1 case of incomplete correction in group B, and the difference was significant ( χ 2=5.341, P=0.021). Conclusion: The penis up transfer method is not only easy to correct PST, but also can correct scrotal separation at the same time, with fewer postoperative complications and satisfactory correction effect of penile scrotal appearance.
Assuntos
Cicatriz , Pênis , Anormalidades Múltiplas , Criança , Humanos , Hiperplasia , Masculino , Necrose , Pênis/anormalidades , Pênis/cirurgia , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Escroto/anormalidades , Escroto/cirurgia , Doenças UretraisRESUMO
Polyorchidism is a congenital malformation of the urogenital system that is usually found incidentally in adolescent age groups. Ultrasound and MRI are effective non-invasive diagnostic modalities which can differentiate this condition from other intrascrotal pathologies. Ultrasonography is mostly used in initial steps of diagnostic approach; however, MRI is considered as a modality to confirm diagnosis and evaluate possible malignancy. We report an extremely rare case of pentaorchidism (five testicles), presented with a left hemiscrotum mass. Diagnosis was made based on physical examination, laboratory analysis (testicular germ cell tumour markers and semen analysis) and imaging. Finally, close surveillance with ultrasound and physical examination was recommended for follow-up of this uncomplicated patient.
Assuntos
Doenças Testiculares , Adolescente , Humanos , Imageamento por Ressonância Magnética , Masculino , Escroto/anormalidades , Escroto/diagnóstico por imagem , Doenças Testiculares/diagnóstico por imagem , Doenças Testiculares/patologia , Testículo/patologia , UltrassonografiaRESUMO
Scrotoschisis is a congenital malformation characterized by testicular exstrophy through a scrotal defect.We report a full-term baby boy with exteriorization of both testes through a right parietal scrotal defect.Bilateral testes extrusion through a lateralized scrotoschisis can occur due to a scrotal septal defect.
Assuntos
Escroto , Testículo , Masculino , Humanos , Testículo/anormalidades , Escroto/anormalidadesRESUMO
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B-related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families engage with genetic counselors upon diagnosis. We found that 56% (10/18) of individuals receive diagnoses before the age of 2 years (median age = 1.96 years), making it challenging to address future complications with limited accessible information and vast phenotypic severity. We used CRISPR to introduce truncating variants into the KAT6B gene in model cell lines and performed chromatin accessibility and transcriptome sequencing to identify key dysregulated pathways. This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients with KAT6B-related disorders.
Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Histona Acetiltransferases/genética , Mutação , Fenótipo , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Alelos , Blefarofimose/diagnóstico , Blefarofimose/genética , Estudos de Coortes , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/genética , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Fácies , Aconselhamento Genético , Loci Gênicos , Genótipo , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Instabilidade Articular/diagnóstico , Instabilidade Articular/genética , Rim/anormalidades , Masculino , Patela/anormalidades , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/genética , Escroto/anormalidades , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/genéticaAssuntos
Pênfigo Familiar Benigno/tratamento farmacológico , Retinoides/uso terapêutico , Cicatriz/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Pênfigo Familiar Benigno/fisiopatologia , Retinoides/farmacologia , Escroto/anormalidades , Escroto/efeitos dos fármacos , Dermatopatias Vesiculobolhosas/tratamento farmacológico , Dermatopatias Vesiculobolhosas/fisiopatologiaRESUMO
Bladder agenesis is a rare congenital anomaly infrequently reported in the literature, with an incidence of 1/600,000 patients.1 Commonly associated with other fatal malformations, the condition is often incompatible with life.2 Prior reports estimate that over 90% of living children born with this malformation are female, owing to renal preservation resulting from low pressure drainage of urine into the vagina, uterus, and vestibule.3,4 Herein we report a rare case of an infant male born with penoscrotal transposition and end stage renal disease secondary to bilateral cystic renal dysplasia found to have concurrent bladder agenesis and bilateral ureteral ectopia.
Assuntos
Anus Imperfurado/complicações , Pênis/anormalidades , Rim Policístico Autossômico Recessivo/complicações , Escroto/anormalidades , Ureter/anormalidades , Doenças Uretrais/complicações , Bexiga Urinária/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Humanos , Recém-Nascido , Falência Renal Crônica/etiologia , Masculino , Pênis/diagnóstico por imagem , Rim Policístico Autossômico Recessivo/diagnóstico por imagem , Escroto/diagnóstico por imagem , Doenças Uretrais/diagnóstico por imagemRESUMO
Background: Congenital megaprepuce (CMP) is a malformation consisting of redundant inner foreskin, normal penile shaft, and severe phimosis. The excess inner prepuce pushes the penile shaft deeper causing the appearance of a buried penis. We describe a novel surgical technique using dartos fascial flaps to reconstruct the prepuce giving excellent cosmetic and functional results. Patients and Methods: Penile reconstruction was performed by a single surgeon in 07 cases of CMP between January 2018 and December 2019. In all cases, the described surgical technique was used. Following surgery, cosmetic and functional outcomes were reviewed as well as the incidence of complications. The patients' ages ranged from 15 to 27 months (mean = 19). Mean hospital stay was 9 hours (range = 7-12). Operating time was between 50 and 85 minutes. Results: Postoperative appearance of the penis was satisfactory for all the parents in our group. Swelling of the penile shaft was seen in all of our patients but settled within one week of surgery. Scrotal hematoma was seen in only one of our patients, but that also did not need any intervention and settled spontaneously. During the follow-up period (mean = 14.5 months, range 6-24) no patient underwent revision surgery. In all our patients, the final appearance was of a circumcised penis. The final similarity to a normal circumcised penis was excellent in all of our patients. Correction of penoscrotal transposition was done in all patients achieving an elongated penile shaft and almost invisible postoperative scarring. Conclusion: Our modified surgical procedure to correct CMP is a safe and simple technique, providing good cosmetic results with the appearance of a standard circumcised penis. This also provides a good functional outcome with complication rate quite low. This technique is also easy to reproduce and teach compared with other complex procedures.
Assuntos
Anormalidades Múltiplas/cirurgia , Prepúcio do Pênis/cirurgia , Pênis/anormalidades , Procedimentos de Cirurgia Plástica/métodos , Escroto/anormalidades , Retalhos Cirúrgicos/cirurgia , Doenças Uretrais/cirurgia , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Pré-Escolar , Prepúcio do Pênis/anormalidades , Humanos , Lactente , Tempo de Internação , Masculino , Duração da Cirurgia , Pênis/cirurgia , Complicações Pós-Operatórias/prevenção & controle , Período Pós-Operatório , Escroto/cirurgia , Resultado do TratamentoAssuntos
Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/terapia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Rim/anormalidades , Patela/anormalidades , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/terapia , Escroto/anormalidades , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/terapia , Adulto , Criança , Terapia Combinada , Anormalidades Craniofaciais/genética , Gerenciamento Clínico , Éxons , Fácies , Feminino , Testes Genéticos , Histona Acetiltransferases/genética , Humanos , Deficiência Intelectual/genética , Comunicação Interdisciplinar , Mutação , Equipe de Assistência ao Paciente , Fenótipo , Transtornos Psicomotores/genética , Radiografia , Resultado do Tratamento , Anormalidades Urogenitais/genéticaRESUMO
Anorectal malformations (ARM) represent a broad spectrum of patients with different level of the rectum and type of a fistula. Standardized approaches are usually successful, but patients occasionally present with an unusual course of fistula which requires a modified surgical strategy. We present here three male ARM patients with an atypical fistula which did not have connection with the urinary tract, but ran near the fistula. Case 1 has a low-type ARM with a rectoscrotal fistula running deep and partly involved in the corpus spongiosum. Anorectoplasty was performed through an anterior sagittal incision and the anterior wall of the fistula was laid open leaving the posterior wall undetached. Case 2 was diagnosed with an intermediate-type ARM with a long rectoscrotal fistula running near and parallel the urethra. Posterior sagittal anorectoplasty (PSARP) was performed leaving the fistula untouched. Case 3 presented with an intermediate-type ARM with a rectoperineal fistula adherent to the urethra. The patient was treated by PSARP leaving the fistula and part of the muscle coat of the rectum in situ. All the cases were smoothly discharged and no urological complication nor problem associated with the residual fistula was observed at the latest follow-up (17 months-2 years). Preoperative distal colostography with the aid of diverting colostomy was importantly useful for deciding surgical procedure.
Assuntos
Malformações Anorretais/complicações , Malformações Anorretais/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Fístula Retal/complicações , Fístula Retal/cirurgia , Canal Anal/anormalidades , Canal Anal/cirurgia , Seguimentos , Humanos , Recém-Nascido , Masculino , Períneo/anormalidades , Períneo/cirurgia , Reto/anormalidades , Reto/cirurgia , Escroto/anormalidades , Escroto/cirurgia , Resultado do TratamentoRESUMO
Complete penoscrotal transposition is an extremely rare congenital anomaly and is usually associated with other urinary system abnormalities. Prenatal diagnosis is feasible by demonstrating perineal anatomy and its relation with scrotum and phallus. We describe two prenatal cases presenting with oligohydramniosis and megacystis due to lower urinary tract obstruction. Postnatal diagnosis was confirmed in both cases. Considering the dismal perinatal outcome, an accurate prenatal diagnosis is required for counseling the parents and preparing for postnatal care.