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1.
J Pediatr Urol ; 20(3): 537-538, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38677981

RESUMO

INTRODUCTION: After 5 years experience with the GUD (glandular urethral disassembly) technique for distal hypospadias, we present the GUDplay technique, incorporating Thiersch-Duplay tubularization of the plate till the coronal area, disassembling the glans aggressively and refurbishing the glans. METHODS: We defined the urethral plate and designed an inverted Y incision to open the glans in two wings. The glans was entirely detached from the corpora to gain a great mobility that allowed minor cranial mobilization of the urethra and caudal rotation of the wings. In sequence, there are well-known steps: Duplay urethroplasty, spongioblasts and a Dartos flap to cover the neourethra. The glans was connected to the urethra by 6.0 PDS sutures except in the ventral meatus and the glans wings are joined in the midline. RESULTS: The 5-year-old patient had midshaft hypospadias without previous surgery. The catheter was removed after a week and the healing appears to be good. DISCUSSION: We combined principles of total glans deconstruction in association to Duplay tubularization and then lifted it up to the tip of the glans divided in two wide and mobile wings. We have treated a small series of 6 cases without complications and mean follow-up of 6.2 months.


Assuntos
Hipospadia , Pênis , Procedimentos de Cirurgia Plástica , Uretra , Procedimentos Cirúrgicos Urológicos Masculinos , Hipospadia/cirurgia , Masculino , Humanos , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Pré-Escolar , Pênis/cirurgia , Pênis/anormalidades , Procedimentos de Cirurgia Plástica/métodos , Uretra/cirurgia , Uretra/anormalidades , Escroto/cirurgia , Retalhos Cirúrgicos
2.
Urologe A ; 60(10): 1291-1303, 2021 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-34524493

RESUMO

BACKGROUND: The conservative and surgical treatment of children is a fundamental pillar of the urological specialist training program and represents one of the core competencies within urological healthcare. The loss of this expertise has been a reoccurring topic within urologic occupational policy. The aim of this study is to analyse actual case numbers and to compare the distribution and dynamics of pediatric urologic surgeries between the specialist departments of urology and pediatric surgery in Germany. MATERIALS AND METHODS: We defined the surgical treatments of maldecensus testis, hypospadias, and vesicoureteral reflux (VUR) as index interventions. Using the tool reimbursement.INFO (RI Innovation GmbH, Hürth, Germany) we analysed publicly available quality report data of German hospitals between 2006 and 2019. RESULTS: While orchidopexy was more commonly performed in the field of urology, the correction of hypospadias and the surgical treatment of VUR showed higher case numbers in the field of pediatric surgery. Proportionally, there was no relevant shift between urologic and pediatric surgical clinics for orchidopexy and surgical VUR therapy during the study period. For hypospadias corrections, the proportion of surgeries performed in pediatric surgical units is increasing (p < 0.0001). In pediatric surgery 84-93% of the analyzed procedures are performed in high-volume units, while this proportion is 56-73% in urology. In particular, a high proportion of VUR therapy in urology is performed as an occasional procedure (30% very low volume). CONCLUSIONS: The quality report data enable the compilation of case numbers and the analysis of the distribution between urology and pediatric surgery in Germany. Merely the correction of hypospadias has shown a relevant shift towards pediatric surgery. The causes and possible consequences for professional policy of this preliminary investigation are complex and require further analysis.


Assuntos
Hipospadia , Urologia , Criança , Atenção à Saúde , Alemanha , Humanos , Hipospadia/epidemiologia , Hipospadia/cirurgia , Masculino , Procedimentos Cirúrgicos Urológicos
3.
J Pediatr Urol ; 2021 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-33827778

RESUMO

This article has been withdrawn as the request of the author(s) and/or Editors. The Publisher apologizes for any inconvenience this may cause.

4.
J Pediatr Urol ; 16(5): 725-726, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32893163

RESUMO

INTRODUCTION: Prostatic utricle cysts result from incomplete regression of Mullerian duct structures and occur most frequently in males with perineal or peno-scrotal hypospadias. Utricular cysts may present with various signs and symptoms including urinary tract infection, pain and post-void incontinence, a palpable abdominal mass or recurrent epididymitis. MATERIAL AND METHODS: We present a 12 months boy we treated due to proximal hypospadias in two stages, in association to a dysplastic undescended testis that was excised. The karyotype of the patient was 45X0/46XY and after successful hypospadias treatment, the mother complained of purulent discharge in the diapers. A sonogram showed a large cyst behind the bladder with heterogeneous content. The diagnosis of utricle cyst was confirmed by a NMR with detailed anatomy and low confluence of the neck of the cyst to the urethra. RESULTS: We performed a robotic excision of the cyst consisting of careful dissection between bladder and rectum and a safe ligation of the communication of it to the urethra. CONCLUSION: Patient outcome was uneventful. To the best of our knowledge this is the youngest patient with utricle cyst treated with robotic approach reported in the literature.


Assuntos
Cistos , Hipospadia , Procedimentos Cirúrgicos Robóticos , Cistos/cirurgia , Humanos , Hipospadia/genética , Hipospadia/cirurgia , Cariótipo , Masculino , Sáculo e Utrículo , Uretra
5.
J Pediatr Urol ; 16(3): 401-403, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32371052

RESUMO

INTRODUCTION: We present an alternative procedure for distal hypospadias consisting of urethral mobilization and glandular disassembly, named GUD-technique. MATERIAL AND METHODS: After circumcision and exposure of distal dysplastic urethra, it is entirely mobilized from corpora and glans. Glans is deconstructed and incised in midline producing two wings almost not connected to glandular urethra at all. The urethra is then mobilized cranially and sutured to the tip of glans. Glans wings embrace the distal urethra producing a refurbished conical glans. DISCUSSION: Koff et al. published a technique consisting of extensive urethral mobilization for hypospadias repair. Mitchell & Blagi and Perovic et al. reported on complete penile disassembly for epispadia repair as a way to complete release of the rotation of the penis and treat chordee bringing the urethra to a more functional location. We incorporated these two principles in GUD. The rationale is to avoid suture urethroplasty, simply repositioning the mobilized urethra distally and working aggressively on glans disassembly creating a more conical and cosmetic glans. The aggressive deconstruction of glans makes this technique unique. CONCLUSION: We are convinced that this operation can be regarded as a genuine alternative to distal hypospadias after performing 100 cases in 3 years of experience.


Assuntos
Hipospadia , Procedimentos de Cirurgia Plástica , Humanos , Hipospadia/cirurgia , Lactente , Masculino , Pênis/cirurgia , Uretra/cirurgia , Procedimentos Cirúrgicos Urológicos Masculinos
6.
Urol Int ; 104(1-2): 156-159, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31715616

RESUMO

BACKGROUND: Hypospadia is one of the most common congenital anomalies in children. Patients with distal hypospadias can be treated successfully with a tubularized incised plate (TIP) urethroplasty, usually with a postoperative urethral stent to divert urine into the diaper or a urine bag for approximately 1 week. However, these stents have their own morbidity and complications. We therefore tried to determine the safety of distal penile hypospadias repair without the use of a postoperative stent. PATIENTS AND METHOD: Fifty patients with distal penile hypospadias were prospectively assessed from May 2016 to August 2018. All patients underwent Snodgrass urethroplasty by the same surgeon. Half of the patients had a postoperative stent for 1 week. The other half had no stent. Clinical follow-up was over 6 months with an emphasis on possible stent-related complications. RESULTS: Fifty children underwent TIP urethroplasty for distal hypospadia repair. The mean age was 5.9 years (range 2-12). In 25 cases, a stent was removed within 1 week. In the other 25 cases, no postoperative stent was placed. The overall complication rate for the stented group was 48% (n = 12) and for the non-stented group 68% (n = 17), respectively. In the stented group, 1 patient (4%) developed a fistula, whilst there were 2 (8%) in the non-stented group. All fistulas were repaired after 6 months postoperatively. Neourethral stenosis and glans dehiscence occurred in each 1 case (4%) in both groups. Differences were not statistically significant. However, there were significantly more wound infections in the stented group. On the other hand, stents prevented temporary urinary retention which occurred in 2 patients in the non-stented group. CONCLUSION: Despite the limited number of cases, our study suggests that, all in all, there is no significant difference in severe complication rates regardless whether a postoperative stent is used or not.


Assuntos
Hipospadia/cirurgia , Pênis/cirurgia , Stents , Procedimentos Cirúrgicos Urológicos/instrumentação , Procedimentos Cirúrgicos Urológicos/métodos , Criança , Pré-Escolar , Estudos Transversais , Humanos , Masculino , Período Pós-Operatório , Estudos Prospectivos , Procedimentos de Cirurgia Plástica , Resultado do Tratamento , Retenção Urinária/prevenção & controle
7.
ACM arq. catarin. med ; 48(3): 14-26, jul.-set. 2019.
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1023483

RESUMO

O presente artigo teve como objetivo avaliar e comparar as cirurgias realizadas para correção de hipospádia em três hospitais de Santa Catarina no período de 2010 a 2017. Foi realizado um estudo retrospectivo, descritivo e de abordagem quantitativa, com dados secundários de prontuários. A população do estudo foi composta por 179 pacientes de dois hospitais públicos (A e B) e um particular. Os resultados encontrados mostraram que 73,2% dos pacientes apresentaram-se com hipospádia distal. A técnica mais utilizada foi Snodgrass, representando 70,4% dos casos. A média de idade dos pacientes quando da primeira cirurgia foi de 34 meses, maior no hospital público B. Apenas 19,7%, dos 76 pacientes analisados, fizeram uso de testosterona tópica no pré-operatório, maioria do hospital particular. Entre aqueles analisados para infecção do trato urinário, 81 prontuários foram analisados e destes, 14,8% tiveram essa infecção, majoritariamente do hospital público A. Da amostra, 50 pacientes necessitaram reoperar, o que representa 28,9%. O motivo mais comum para reoperação foi a presença de fistula uretrocutânea (46%), seguida de estenose uretral (18%), não havendo diferença significativa entre a média de reoperações por hospitais. Concluiu-se que a idade da primeira cirurgia foi maior do que a indicada na literatura. Houve maior prevalência de hipospádia distal, sob correção pela técnica de Snodgrass. O uso de hormônio ocorreu predominantemente nos pacientes do hospital particular. A taxa de infecção do trato urinário do estudo foi maior do que o encontrado na literatura. O principal motivo para reoperação foi a presença de fistula uretrocutânea.


The present paper aims evaluate and compare the hypospadia surgery in three hospitals in the Santa Catarina between 2010 and 2017. This is an observational, retrospective and quantitative approach, with secondary data collection obtained through the analysis of medical records. The study population consisted of 179 patients from two public hospitals (A and B) and one private hospital. The results demonstrated that 73,2% of the patients presented with distal hypospadia. The technique most used was Snodgrass procedure, representing 70,4% of the cases. The mean age of the patients at the first surgery was 34 months, highest in the public hospital B. Only 19.7% of the 76 patients used preoperative hormone. Among those analyzed for urinary tract infection, 14,8% had this infection, mostly from the public hospital A. Of the study population, 50 needed to reoperate, which represents 28,9%. The most common reason for reoperation was the presence of fistula (46%). In our research, there was no significant difference between the mean number of reoperations per hospital. It was concluded that the age of the first surgery was higher than that indicated in the literature and there was a higher prevalence of distal hypospadia. The most underwent Snodgrass technique. The use of hormone occurred predominantly in the patients of the private hospital. The urinary tract infection rate of the study was higher than that found in the literature. The main reason for reoperation was the presence of urethrocutaneous fistula.

8.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-799976

RESUMO

Objective@#To carry out genetic testing for a boy presenting with mental retardation and hypoplasia.@*Methods@#Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents.@*Results@#SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46, XX, ish ins(11; 2)(p15; q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46, XY, ish der(11)ins(11; 2)(p15; q33q36)mat.@*Conclusion@#SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.

9.
Br J Health Psychol ; 23(4): 967-981, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30054962

RESUMO

INTRODUCTION: Psychological research provides insights into how parents approach medical decisions on behalf of children. The medical decision of concern here is the surgical alteration of a hypospadic penis, whose urethral opening does not appear at the tip. Hypospadias surgery is routinely carried out in infancy, despite criticism by international organizations concerned about children's rights. The focus of this study is on the framing of hypospadias surgery. OBJECTIVES: The objective was to examine how health professionals frame hypospadias and hypospadias surgery in medical and non-medical ways. DESIGN: This was a qualitative study designed to build on the experimental research of Streuli et al. who investigated how medical versus non-medical information affects decision-making about non-essential childhood genital surgery. METHODS: Semi-structured interviews were undertaken with 32 health professionals. Theoretically informed thematic analysis was used to examine how health professionals talk about hypospadias surgery and about supporting parents to make treatment decisions. RESULTS: The analysis suggests that medical professionals' engagement with parents underestimates the effect of framing in influencing parental decisions about hypospadias surgery. Some psychological specialists in this area are actively framing hypospadias in ways that enable some parents to choose a non-medical pathway. Psychologically informed ways of talking about a child's genital difference focus on psychological qualities, including affect, well-being, and unconditional positive regard. CONCLUSIONS: The best interests of children with hypospadias may well be served when psychological pathways are highlighted, providing opportunities to support the flourishing of children whose genital appearance raises the question of medical intervention. Statement of Contribution What is already known on this subject? Framing significantly affects medical decision-making in ways that people typically fail to perceive. Parents frequently consent to non-essential hypospadias (penile) surgery for their sons, despite the risks and ethical concerns. What does this study add? Medical teams could do more to consider framing when counselling parents about their son's hypospadias. Psychological specialists can help parents to frame their son's penile difference in terms of well-being and love. The best interests of children with hypospadias may be served by highlighting psychological care pathways.


Assuntos
Tomada de Decisões , Comunicação em Saúde/métodos , Pessoal de Saúde , Hipospadia/psicologia , Pais/psicologia , Pênis/cirurgia , Adulto , Inglaterra , Feminino , Humanos , Hipospadia/cirurgia , Lactente , Entrevistas como Assunto , Masculino , Pesquisa Qualitativa , Escócia , Suécia
11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-808005

RESUMO

Objective@#To investigate the therapeuctic effect of one-stage reconstruction of distal urethra with free graft of tublar oral mucosa.@*Methods@#Two strips of oral mucosa graft( 0.4—0.6 cm in width), were harvested and sutured around an oiled silk roll to form mucosa tube. The mucosa tube was used to reconstruct distal urethra. Postoperative pressure dressing and earlier urination were recommended.@*Results@#From May 2007 to October 2015, 16 cases with distal urethra defect or stenosis were treated with this method. The urethra defect was 2—4 cm in length. Urethral fistula happened in 3 patients. All the other 13 cases healed primarily. 10 cases were followed up for 1—5 years by telephone with normal function.@*Conclusions@#One-stage reconstruction with free graft of bulbar oral mucosa is suitable and reliable for distal urethra defect less than 4 cm in length.

12.
Twin Res Hum Genet ; 18(5): 591-4, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26271273

RESUMO

BACKGROUND: Hypospadias is associated with twinning. The incidence of hypospadias in monochorionic and dichorionic male twins is, however, yet to be determined. METHODS: All medical records of monochorionic and dichorionic twins admitted to our neonatal nursery between January 2004 and August 2013 were reviewed for the presence of hypospadias. RESULTS: A total of 350 monochorionic and 303 dichorionic male twins were included in the study. The incidence of hypospadias in monochorionic and dichorionic groups was 4% (14/350) and 1% (3/303) (p = .016) respectively. In 11 of the 15 twin couples, hypospadias occurred in the twin with the lowest birth weight. The rate of hypospadias in twin infants small-for-gestational-age group was 10% (6/60) compared with 2% (11/593) in the appropriate-for-gestational-age group (p = .002). In a multivariate analysis, both monochorionicity and small-for-gestational-age were independently associated with hypospadias, odds ratio 4.1 (95% confidence interval (CI): 1.1-14.7) and 6.1 (95% CI: 2.2-17.2) respectively. CONCLUSIONS: The incidence of hypospadias is four-fold higher in monochorionic twins compared with dichorionic twins. Hypospadias is also independently associated with small-for-gestational-age.


Assuntos
Hipospadia/epidemiologia , Recém-Nascido Pequeno para a Idade Gestacional , Idade Gestacional , Humanos , Incidência , Recém-Nascido de Baixo Peso , Recém-Nascido , Modelos Logísticos , Masculino , Análise Multivariada , Estudos Retrospectivos , Gêmeos Dizigóticos , Gêmeos Monozigóticos
13.
Turk J Urol ; 39(2): 116-8, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26328092

RESUMO

Urinary tract abnormalities are frequently detected during obstetrical ultrasonography (US). However, hypospadia is often missed on prenatal US, despite it being the most common congenital defect of the male external genitalia. The prenatal recognition of hypospadias is important because it will alert the physician to order karyotyping and to look for any possible associated dysmorphic syndromes. Here, we present a case of a penoscrotal hypospadia mimicking female genitalia and describe our experience of applying two-dimensional and three-dimensional US in the prenatal diagnosis of hypospadia. Prenatal ultrasound scans should include a study of the genitals and should not only be used for sex determination.

14.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-423544

RESUMO

Objective To investigate the significance of clinical nursing pathway in perioperative period of children with hypospadia.Methods 63 cases of hypospadia children patients were randomly divided into the control group (30 cases)and the experimental group (33 cases).The traditional nursing method was used in the control group,while the clinical nursing pathway was used in the experimental group.Results The hospital stay,hospital charges and complications of the experimental group were less than the control group.The satisfaction degree of the experimental group was higher than the control group.There was significant difference.Conclusions Clinical nursing pathway is a safe and effective nursing model.It can shorten hospital stay,reduce hospital charges,decrease complications,and improve patients' satisfaction degree.

15.
Rev. Col. Bras. Cir ; 35(1): 34-39, jan.-fev. 2008. graf, tab
Artigo em Português | LILACS | ID: lil-479271

RESUMO

OBJETIVO: Avaliar o processo inflamatório e a fibrose em retalhos tubulares confeccionados na pele do dorso de ratos Wistar, moldados com cateteres de silicone com diferenças de resistência à compressão diametral. MÉTODO: Vinte ratos Wistar foram submetidos à confecção de três retalhos tubulizados de pele em região dorsal. Um retalho não foi moldado e os outros dois receberam, respectivamente, como molde interno, durante um período de sete dias, cateteres de silicone com diâmetros iguais e diferentes resistências à compressão diametral. Os animais foram divididos em dois grupos e sacrificados, respectivamente, no sétimo e vigésimo primeiro dia após a cirurgia. Realizou-se estudo histopatológico para a avaliação da fibrose e do processo inflamatório. RESULTADOS: Não foram encontradas diferenças significativas quanto à presença de fibrose ou processo inflamatório entre os três grupos estudados. CONCLUSÃO: A presença do cateter de silicone, independente de sua resistência à compressão diametral, não aumentou a intensidade da reação inflamatória e da fibrose nas margens suturadas de retalhos tubulares da pele de ratos Wistar.


BACKGROUND: To compare the fibrosis and the inflammatory process postoperatively following tubularized whole skin flaps on the back of Wistar rats, using of silicone catheters of two different resistances to the diametrical compression. METHODS: Twenty Wistar rats were submitted to three tubularized whole skin flaps on their back. One was not molded and the other ones two received, respectively, as internal mold, during a period of seven days, catheters of silicon with same diameters and different resistances to the diametrical compression. They were subdivided into two groups, which were then sacrificed on the seventh and on the twenty-first postoperative day, respectively, for histological analysis, which evaluated fibrosis and the inflammatory process. RESULTS: No significant difference was noticed among the flaps without and those with silicone catheters. CONCLUSION: The presence of silicone catheters does not increase the intensity of the inflammatory reaction and of the fibrosis in the healing process of sutured borders of skin tubes on the back of Wistar rats.

16.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-400682

RESUMO

Objective To discuss effective nursing measures for patients with congenital hypospadia with the application of urethral stent.Methods 142 patients with congenital hypospadia were selected and used soft stent during and after operation.The urethral orifice was kept smooth after operation and the stent was removed until 2 weeks after operation.Results Two patients complicated with urethral fistula,one was because of the poor blood supply of the skin flap and the other because of the edema of the skin flap and the remove of stent.Other patients received good treatment effect. Conclusion Application of urethral stent in patients with congenital hypospadia could reduce the incidence of infection and increase the success rate of operation.

17.
Rev. Soc. Boliv. Pediatr ; 44(1): 15-17, ene. 2005. ilus
Artigo em Espanhol | LILACS | ID: lil-738329

RESUMO

Objetivo: Mostrar en nuestra comunidad médica la utilidad y las ventajas de la técnica de Snodgrass combinada con colgajo vascularizado de dartos para corregir hipospadias. Material y métodos: De julio de 2001 a julio de 2004 se llevo a cabo en el Servicio de Cirugía Pediátrica del Hospital Universitario Japonés un estudio prospectivo con el uso de la técnica de Snodgrass combinado con colgajo subcutáneo vascularizado de dartos para la corrección de hipospadias proximales y dístales. Se realizó en un total de 11 pacientes (8 hipospadias dístales y 3 proximales) con una media de edad de 2,5 años al momento de la cirugía. Se usó catéter de molde 10 o 12 Fr. en todos los casos durante un espacio de 7 días para las uretroplastías dístales y 10 días para las proximales. Resultados: De los 8 pacientes con hipospadia distal en ninguno se documentó la presencia de fístula uretrocutánea, hubo dos casos de dehicencia parcial de la sutura del glande y en un caso una estenosis de meato uretral. En las hipospadias proximales se documentaron 2 fístulas (de pequeño calibre) en el área de la anastomosis entre el meato uretral primitivo y la neouretra, ambas se corrigieron espontáneamente. Conclusión: Mostramos la experiencia del servicio de Cirugía Pediátrica del H.U.J. con la técnica Snodgrass combinado con colgajo vascularizado de dartos para la corrección hipospadias. Se presentó un bajo porcentaje de complicaciones, las mismas que tuvieron fácil resolución, no hubo repercusión ostensible en la morbidad de nuestros pacientes.


Objective: To show our experience and the utility of the Snodgrass technique with darto´s flap in the correction of Hypospadias. Methods: From July 2001 to July 2004, the paediatric surgical service of the Japanese University Hospital did a prospective study using the Snodgrass technique combined with dartos flap in the correction of distal and proximal hypospadias. We operated 11 patients (8 distal hipospadias and 3 proximal hipospadias); a medium age at the time of surgery was 2,5 years old. The neourethras was stented using catheter 10 or 12 Fr., 7 days for distal hipospadias and 10 days for proximal cases. Results: The patients with distal hipospadias nobody had urethrocutaneous fistula; two cases reported glandar dehiscence and another one meatal stenosis this required meatotomy. In patients with proximal hipospdias we have two cases with minor urethrocutaneous fistula, these resolved with observation and any surgical correction. Conclusion: We report the experience of the J.U.H. Paediatric Surgery Service with the Snodgrass technique and dartos flap for hypospadia´s repair. This technique shows to be a good alternative for hipospadias correction for the low incidence of complications and almost any morbidity of the patients.

18.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wpr-92927

RESUMO

PURPOSE: The development of external genitalia in genetic male is dependent on the transcriptional regulatory activity of dihydrotestosterone(DHT)-androgen receptor complex in the genital skin. The abnormality of androgen receptor encompasses a wide range of phenotypes. We investigated the androgen receptor binding capacity of genetic males with ambiguous genitalia(grade was determined by Prader grade) for the availability as screening test. METHODS: The binding capacity of the androgen receptor was assessed in fibroblasts established from foreskin or pubic area skin of genetic male [normal control(n=5); Prader grade 2, 3(P23; n= 5); Prader grade 4, 5, 6(P456; n=4), Prader grade 7(P7; n=2)]. RESULTS: There was no significant difference in averages of Bmax(maximum binding capacity) and Kd(equilibrium dissociation constant) of [3H]DHT to the androgen receptor between those of controls and P23. In P456, Bmax was decreased in two patients and Kd was increased in one patient. Bmax and Kd were normal in one patient. In P7, specific binding was not documented and compatible with androgen insensitivity syndrome. CONCLUSION: In genetic male with complete female phenotype without pubic hair(P7), the binding study may be useful as a diagnostic tool. But in genetic male with hypospadia(P23) or incomplete female phenotype(P456), the binding study is not useful as a diagnostic test.


Assuntos
Criança , Feminino , Humanos , Masculino , Síndrome de Resistência a Andrógenos , Testes Diagnósticos de Rotina , Fibroblastos , Prepúcio do Pênis , Genitália , Hipospadia , Programas de Rastreamento , Fenótipo , Piridinolcarbamato , Receptores Androgênicos , Diferenciação Sexual , Pele
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