Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 23
Filtrar
1.
J Pediatr Urol ; 15(1): 50.e1-50.e6, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30243559

RESUMO

PURPOSE: Upper pole nephrectomy has been the traditional surgical management of children with poorly functioning upper pole moieties in duplex renal collecting systems having ureteral ectopia and ureterocele. However, ablative surgery confers a risk of functional loss to the remnant moiety due to vasospasm or vascular injury. It was hypothesized that ipsilateral ureteroureterostomy (IUU) is a safe and feasible approach for the management of these patients and that residual function in the obstructed upper pole does not affect surgical outcomes. MATERIALS AND METHODS: All patients with duplex systems who underwent IUU between 2010 and 2016 were retrospectively reviewed. Patients were sorted into two groups based on pre-operative imaging: those having <10% upper pole moiety function (UPMF) and those having ≥ 10% UPMF. Outcomes assessed were postoperative complications (Clavien-Dindo classification), need for secondary surgery, and radiological outcomes. RESULTS: The study cohort comprised 53 children with ectopia or ureterocele affecting the upper pole in a duplex system, 21 with UPMF <10% (median function 0% and median age 1.49 years) and 32 with UPMF ≥ 10% (median function 15% and median age 0.91 years). Median follow-up was 27.4 months and 27.6 months. In both the groups, prenatal hydronephrosis was the most common presentation (57% and 56%, respectively; p = 0.18) followed by urinary tract infection. Mann-Whitney U test comparing the two groups revealed no significant differences in any of the outcomes assessed. No patient required secondary surgery. CONCLUSION: Ipsilateral ureteroureterostomy is a safe, definitive surgical intervention that preserves the renal architecture in children with duplex collecting systems regardless of upper pole function.


Assuntos
Ureter/anormalidades , Ureter/cirurgia , Obstrução Ureteral/fisiopatologia , Obstrução Ureteral/cirurgia , Ureterocele/cirurgia , Ureterostomia/métodos , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Obstrução Ureteral/etiologia , Ureterocele/complicações
2.
J Pediatr Urol ; 14(4): 328.e1-328.e7, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29898866

RESUMO

INTRODUCTION: Re-operative penile reconstruction is challenging and requires tension-free skin closure. The repair popularized by Cecil and Culp in the 1940s, using the scrotum to provide a temporary vascularized bed for complex hypospadias repairs, fell out of favor due to temporal trends towards single-stage repairs and concern for utilizing hair-bearing skin on the penile shaft. OBJECTIVE: It was hypothesized that a modified Cecil-Culp (CC) concept of penile scrotalization, leaving the penis attached to the scrotum for 1 year rather than 6 weeks as originally described, improves outcomes with this reconstruction for ventral skin deficiency or poor vascular support. METHODS: Institutional Review Board-approved registries were reviewed to identify patients who underwent a CC repair during 1987-2016 at two institutions. Cecil-Culp technique was utilized in multi-stage hypospadias complication repairs or for insufficient ventral penile shaft skin coverage. Anatomic abnormality, number and type of prior surgeries, and complications before and after CC were recorded. RESULTS: Thirty-nine patients underwent CC: 23 failed hypospadias repairs, three hypospadias after bladder exstrophy, 10 penile curvature following circumcision, and three with skin loss from trauma. Mean age at CC was 61.8 months (hypospadias), and 59.8 months (non-hypospadias). Hypospadias patients underwent a mean of 3.6 surgeries (range 1-9) prior to CC. Four of the 39 patients (10.3%) had perioperative complications after CC, including scrotal abscess, skin infections, and difficulty removing the urethral stent. Eight of 37 (21.6%) patients had longer-term complications related to their hypospadias repair, including fistulae, diverticula, dehiscence, and stricture. Mean time from CC placement to release was 345 and 473 days for hypospadias and non-hypospadias cases, respectively. There was no apparent scrotal skin transferred to the penile shaft at the final take-down. Mean follow-up was 22.3 months. DISCUSSION: Embedding the penis into the scrotum for added vascularity and ventral skin coverage has been used effectively in cases of the most tenacious fistulas and for significant skin loss and trauma. Limitations of this study were its retrospective approach at two institutions over an extended period of time by multiple surgeons, so patient selection and procedure may have varied. CONCLUSIONS: Modification of CC repair by delaying 9-12 months before CC take-down enhanced the benefits of a robust vascular bed for wound healing, and helped to avoid transfer of hair-bearing scrotal skin to the penile shaft. The CC technique is an important tool for penile reconstructive surgery of complex hypospadias repairs with inadequate skin, and for traumatic injuries.


Assuntos
Hipospadia/cirurgia , Pênis/cirurgia , Retalhos Cirúrgicos , Criança , Pré-Escolar , Humanos , Masculino , Procedimentos de Cirurgia Plástica/métodos , Estudos Retrospectivos , Escroto/cirurgia , Procedimentos Cirúrgicos Urológicos Masculinos/métodos
3.
J Pediatr Urol ; 14(4): 329.e1-329.e7, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29454628

RESUMO

INTRODUCTION: In testicular torsion, ischemia time from pain onset impacts testicular salvage. A tunica albuginea fasciotomy to relieve compartment pressure followed by a tunica vaginalis flap (TVF) may enhance salvage. OBJECTIVE: To define the optimal window of ischemia time during which TVF may be most beneficial to avoid orchiectomy. STUDY DESIGN: A retrospective cohort study of males presenting with testicular torsion at a single tertiary-care institution from January, 2003 to March, 2017. Ischemia time was defined as duration of pain from onset to surgery. Because TVF would be an option to orchiectomy, and it was found that ischemia time was longer in testicles that underwent orchiectomy, matching was performed. Cases of torsion treated with TVF were matched 1:1 with cases treated with orchiectomy on age at surgery, and ischemia time. Outcomes included postoperative viability, defined as palpable testicular tissue with normal consistency, and atrophy, defined as palpable decrease in size relative to contralateral testicle. Sensitivity analyses were performed restricting to the subgroups with postoperative ultrasound, >6 months' follow-up, and additionally matching for degrees of twist. RESULTS: A total of 182 patients met eligibility criteria, of whom 49, 36, and 97 underwent orchiectomy, TVF, and septopexy alone, respectively. Median follow-up was 2.7 months; 26% of patients had postoperative ultrasound (61% of TVF group). In the orchiectomy, TVF, and septopexy groups, respectively, median ischemia times were 51, 11, and 8 h, postoperative viability rates were 0, 86, and 95%, and postoperative atrophy rates were 0, 68, and 24%. After matching, 32 patients with TVF were matched to 32 patients who underwent orchiectomy. In the TVF group, postoperative viability occurred in 95% (19/20) vs 67% (8/12) of patients with ischemia times ≤24 and >24 h, respectively. Atrophy occurred in 67% (12/18) vs 83% (10/12) of these same respective patients. Sensitivity analysis by ultrasound and longer follow-up found similar viability results, although atrophy rates were higher. Additional matching for degrees of twist showed lower viability and higher atrophy rates for increasing ischemia times. DISCUSSION: Patients who presented with testicular torsion with ischemia times ≤24 h and who were being considered for orchiectomy may have benefitted most from TVF, albeit at high risk of atrophy. However, for ischemia times >24 h, TVF may still have preserved testicular viability in two-thirds of cases. A limitation was short follow-up. CONCLUSION: A TVF was a valid alternative to orchiectomy for torsed testicles, albeit with high testicular atrophy rates.


Assuntos
Torção do Cordão Espermático/cirurgia , Retalhos Cirúrgicos , Adolescente , Estudos de Coortes , Humanos , Masculino , Orquiectomia , Estudos Retrospectivos , Testículo/cirurgia , Procedimentos Cirúrgicos Urológicos Masculinos/métodos
4.
J Pediatr Urol ; 12(6): 418-425, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27856173

RESUMO

INTRODUCTION: Disorders of sex development (DSD) are a heterogeneous group of complex conditions that can affect chromosomal, gonadal, and/or phenotypical sex. In addition to impacts on internal and external genitalia,these conditions can affect fertility potentialto various degrees. In this review we discuss fertility issues including gonadalpreservation and reproductive outcomes based on specific DSD conditions. METHODS AND MATERIALS: A systematic literature review was performed on Embase™, PubMed®, and Google Scholar™ for disordersof sex development and infertility. Original research articles and relevant reviews were examinedand a synopsis of these data was generated for a comprehensive review of fertility potential in disorders of sex development. RESULTS: While patients with some DSDs may have functioning gonads with viable germ cells but an inability to achieve natural fertility secondary to incongruent internal or external genitalia, other patients may have phenotypically normal genitalia but infertility due to abnormal gonad development. Fertility rates in females with congenital adrenal hyperplasia (CAH) depend on phenotype and are inversely proportionalto the severity of the disease. Men with classic CAH have reduced fertility and due to the presence of testicular adrenal rest tumors and to suppression of the hypothalamic-pituitary-gonadal axis by high systemic levels of androgens. Infertility is seen in complete androgen insensitivity and subfertility is common in partial cases. Fertility is rare in pure or mixed gonadal dysgenesis, ovotesticular disorder, Klinefelter syndrome, and XX males. CONCLUSION: Fertility potential appears to be the highest in patientswith XX or XY CAH, especially non-classic forms. Advancements in assisted reproduction techniques has in rare cases produced offspring in some diagnoses thought to be universally infertile. Discussion of fertility issues with the patient and family is essential to the optimal treatment of each patient and an important part of the multi-disciplinary approach to evaluating and counseling these families.


Assuntos
Transtornos do Desenvolvimento Sexual/complicações , Infertilidade/etiologia , Feminino , Humanos , Masculino
5.
J Pediatr Urol ; 11(4): 172.e1-6, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26052004

RESUMO

INTRODUCTION: The symptomatic calyceal diverticulum is a rare event in the pediatric population. In adults, surgical options include ureteroscopy, percutaneous ablation, and laparoscopic decortication but there is a lack of experience in the literature with these techniques. OBJECTIVE: We present our experience with both the ureteroscopic and laparoscopic approach to treating the pediatric calyceal diverticulum. STUDY DESIGN: We performed a retrospective case series looking at patients who underwent treatment for calyceal diverticulum at our institution from January 2009 to May 2014. We reviewed patient demographics, indications for intervention, radiographic appearance, type of intervention, and perioperative outcomes. Ureteroscopic approach included dilation of infundibulum and ablation of diverticular cavity. Laparoscopic approach included ablation of the diverticulum with argon diathermy with or without surgical closure of the ostium. RESULTS: There were 13 patients who underwent 15 procedures for symptomatic calyceal diverticulum (Table). Median age was 11 years. Indications for intervention were: pain and increasing size of diverticulum (8/15, 55%), hematuria (3/15, 20%), UTI (3/15, 20%), and calculi (1/15, 5%). 11/15 (73%) procedures were managed endoscopically and 4/15 (27%) were managed with laparoscopic decortication. Ureteral stent was left in all patients for a mean duration of 51 days (15-120 days). Follow up imaging at median of 2.1 years (0.5-4 years) revealed an initial success rate of 85% (11/13 patients). Two patients failed initial intervention (persistent pain/increasing size) necessitating successful secondary minimally invasive procedures. There were 2 (13%) complications: a perinephric hematoma post endoscopic ablation which resolved spontaneously and a deep venous thrombosis in a patient with a coagulation disorder in the laparoscopic group. DISCUSSION: Limitations of our study include its retrospective design, lack of standardization of the treatment approach amongst the four treating surgeons, and the small number of patients requiring intervention for this relatively rare diagnosis. Our study is the largest to date in the pediatric population and is the first to report outcomes with ureteroscopic management of the calyceal diverticulum. CONCLUSIONS: We found that the pediatric calyceal diverticulum can be successfully treated in a minimally invasive manner. The endoscopic approach should be the first line option for patients with small, endophytic diverticula, particularly those located in the upper and mid pole. The laparoscopic approach is more invasive but should be considered for large diverticula that are exophytic with thin overlying parenchyma.


Assuntos
Divertículo/cirurgia , Cálculos Renais/cirurgia , Cálices Renais/cirurgia , Laparoscopia/métodos , Nefrostomia Percutânea/métodos , Ureteroscopia/métodos , Adolescente , Criança , Pré-Escolar , Divertículo/complicações , Feminino , Seguimentos , Humanos , Cálculos Renais/complicações , Masculino , Estudos Prospectivos , Resultado do Tratamento
6.
Hum Reprod ; 25(1): 37-41, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19861330

RESUMO

BACKGROUND: Gonadal damage is a consequence of therapy for pediatric malignancies. Prepubertal males have no semen or mature spermatozoa, posing a challenge for fertility preservation. Testicular tissue cryopreservation is a potential option but is still experimental. We report on a pilot protocol that offered testicular biopsy cryopreservation to families of prepubertal boys with newly diagnosed malignancy. The aims were to determine the acceptability and safety of this procedure. METHODS: Parents of prepubertal boys with diagnoses at highest risk for treatment-related gonadal damage were offered the option of testicular cryopreservation. Half of the biopsy was frozen for the subject's potential future use and the remainder used for research. Data on negative intraoperative and/or 7 day post-operative sequelae of testicular biopsies were assessed. Two to four weeks later, parents were asked to complete a questionnaire on factors influencing their decision to have the biopsy or not. RESULTS: Since January 2008, 24 boys have met the eligibility criteria but three required immediate treatment and were excluded. Sixteen of 21 families (76%) consented to testicular biopsy, indicating the prospective acceptability of this option to parents of boys aged 3 months to 14 years; 14 underwent the procedure without any negative intra- or post-operative sequelae. Although the time at diagnosis is stressful, families can give thoughtful consideration to this option. Factors such as religion, finance, ethics and the experimental nature of cryopreservation did not play a major role in decision-making. CONCLUSIONS: Parents of prepubertal boys with cancer are willing to pursue testicular tissue cryopreservation at diagnosis, and testicular biopsy caused no acute adverse effects.


Assuntos
Criopreservação/métodos , Técnicas de Reprodução Assistida , Testículo , Preservação de Tecido/métodos , Adolescente , Biópsia/efeitos adversos , Criança , Pré-Escolar , Humanos , Lactente , Infertilidade Masculina/etiologia , Infertilidade Masculina/terapia , Masculino , Neoplasias/complicações , Neoplasias/tratamento farmacológico , Neoplasias/radioterapia , Lesões por Radiação , Medição de Risco
8.
J Urol ; 166(4): 1451-4, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11547110

RESUMO

PURPOSE: Human chorionic gonadotropin (HCG) has a stimulatory effect on testicular steroidogenesis and has been widely used for evaluating male Leydig cell function. However, considerable variability exists in the protocols for HCG stimulation tests. In the most commonly used protocols HCG is administered daily for several days. We examine the circulating androgen response after 1 and 3-dose HCG regimens. MATERIALS AND METHODS: We evaluated 77 prepubertal boys diagnosed with hypospadias, cryptorchidism or micropenis. In 60 boys who underwent 1 dose of 100 IU/kg. or 5,000 IU/1.7 m.(2) HCG serum testosterone and dihydrotestosterone were sampled at 72 (28) and 96 (32) hours after injection, while in 17 who underwent 3 daily age adjusted doses hormone levels were determined on day 4. All blood specimens were obtained and injections were performed at 8:00 to 9:00 a.m. and all specimens were evaluated at the same endocrine reference laboratory. RESULTS: Nonstimulated testosterone levels were prepubertal in all groups. In the 1-dose groups post-stimulation testosterone was elevated 22 to 29-fold from baseline after a weight based and 34 to 35-fold after a body surface area based dose. Testosterone increased 20-fold baseline in the multi-dose group. No significant differences were observed in 72 versus 96-hour hormone levels. CONCLUSIONS: Evaluating Leydig cell function by HCG stimulation is an important adjunct to the diagnosis of various urological conditions. A single weight or body surface area based HCG dose with androgen measurement after 3 or 4 days is a practical, reliable and cost saving change in testicular evaluation.


Assuntos
Gonadotropina Coriônica/administração & dosagem , Criptorquidismo/sangue , Hipospadia/sangue , Pênis/anormalidades , Testosterona/sangue , Criança , Esquema de Medicação , Humanos , Masculino , Estudos Retrospectivos
9.
Urology ; 55(5): 775, 2000 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-10792110

RESUMO

A 32-week estimated gestational age female infant had elevated systolic blood pressure at birth and a palpable left abdominal mass. Radiologic evaluation revealed a left upper pole renal mass. The renin level was significantly elevated. Left nephrectomy confirmed a diagnosis of congenital mesoblastic nephroma. The postoperative renin level normalized along with the blood pressure. Histologic analysis identified renin production from either the mesoblastic nephroma or secondarily from compression or ischemia. Mesoblastic nephroma should be considered as part of the differential diagnosis for hypertension in the young. The renin concentration and a renal ultrasound scan should be obtained as part of the evaluation.


Assuntos
Neoplasias Renais/congênito , Nefroma Mesoblástico/congênito , Renina/sangue , Feminino , Humanos , Hipertensão/etiologia , Recém-Nascido , Rim/diagnóstico por imagem , Neoplasias Renais/diagnóstico , Neoplasias Renais/cirurgia , Nefrectomia , Nefroma Mesoblástico/diagnóstico , Nefroma Mesoblástico/cirurgia , Ultrassonografia
10.
J Urol ; 163(6): 1941-3, 2000 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10799234

RESUMO

PURPOSE: Hypospadias is a common genitourinary anomaly affecting every 1/300 male newborns. The goals of hypospadiac surgery include a straight penis with a urethral meatus at the tip of the glans, a well vascularized neourethra of adequate caliber with a solid, straight urinary stream and achievement of sexual function when mature. Current theory advocates preservation of the urethral plate with chordee correction. Hypospadias repair without an adequate urethral plate to roll into a tube requires longitudinal incision of the plate or a transverse preputial island flap. We describe a technique of 1-stage urethroplasty using an inner preputial based dorsal inlay graft. MATERIALS AND METHODS: After the penis is degloved and chordee corrected incisions are made bilaterally along the urethral plate from the native urethral meatus to the glans tip. The urethral plate is incised longitudinally. A graft harvested from the inner prepuce is defatted and sutured onto the incised urethral plate. The neourethra is rolled into a tube in Thiersch-Duplay fashion. RESULTS: This technique was used in 32 patients. The original urethral meatus was coronal to penoscrotal and chordee release was performed concomitantly. At 21 months of followup no patient had a stricture, fistula or diverticulum at the inlay graft site. CONCLUSIONS: This technique successfully fulfills all traditional hypospadias repair criteria. We believe that the dorsal inlay graft after incision of the urethral plate is a rapid, easy and successful addition to the armamentarium of the "hypospadiologist."


Assuntos
Hipospadia/cirurgia , Transplante de Pele , Uretra/cirurgia , Procedimentos Cirúrgicos Urológicos Masculinos , Criança , Pré-Escolar , Humanos , Lactente , Masculino , Transplante de Pele/métodos
11.
J Urol ; 163(6): 1949-51, 2000 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10799237

RESUMO

PURPOSE: In patients suspected to have the vertebral, anal, tracheoesophageal, renal, radial, cardiac and limb abnormalities (VACTERL) association we studied the frequency of upper urinary tract anomalies, prevalence of these features, predictability of upper tract pathology and proper screening evaluation. MATERIALS AND METHODS: From 1991 to 1998 we identified 55 patients with the VACTERL association. Upper urinary tract assessment, including initial renal ultrasound and voiding cystourethrography, and followup data were available for 29 boys and 15 girls. Patients were considered to have the VACTERL association when 3 or more organ systems were involved. RESULTS: Average followup was 5.4 years. Upper urinary tract involvement was noted in 41 of the 44 patients (93.2%) and vesicoureteral reflux in 17 (25 renal units). Of the kidneys 21 were hydronephrotic without reflux or obstruction, 10 were solitary, 3 were multicystic dysplastic, 8 were obstructed and only 17 were normal. A total of 27 patients (61%) underwent at least 1 genitourinary procedure, primarily ureteroneocystotomy. All children were alive at the last followup. CONCLUSIONS: The VACTERL association involves multiple serious anomalies. However, these infants generally have a good outcome. Since the upper urinary system is the most common organ system involved, patients should receive prophylactic antibiotics until an initial urological assessment with renal ultrasound and voiding cystourethrography is performed. It is essential for physicians to know that most children with the VACTERL association have urological involvement that requires treatment and long-term management.


Assuntos
Anormalidades Múltiplas , Anormalidades Urogenitais , Criança , Feminino , Humanos , Hidronefrose/etiologia , Rim/anormalidades , Masculino , Estudos Retrospectivos , Refluxo Vesicoureteral/etiologia
12.
J Urol ; 162(3 Pt 2): 1203-8, 1999 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10458467

RESUMO

PURPOSE: Approximately 10 to 30% of prenatal cases of hydronephrosis result in the postnatal diagnosis of vesicoureteral reflux. Using a new generic prenatal-postnatal data sheet developed by the Society for Fetal Urology the characteristics, natural history and outcome of prenatal hydronephrosis confirmed postnatally to be vesicoureteral reflux were documented at 3 centers. MATERIALS AND METHODS: We performed a retrospective multicenter review of Society for Fetal Urology data sheets completed for each patient in whom prenatal hydronephrosis was proved to be postnatal vesicoureteral reflux from 1993 to 1998. RESULTS: In 56 male and 15 female patients with prenatal hydronephrosis a total of 116 refluxing renal units were confirmed postnatally. Of the 116 renal units 112 were hydronephrotic prenatally. During gestation increased hydronephrosis was noted with voiding in 4 cases. Of the 112 hydronephrotic renal units only 26 ureters in 15 patients were seen prenatally. The obstetrician considered the diagnosis of vesicoureteral reflux in only 24% of the cases. Postnatally 116 refluxing renal units were identified. Initial postnatal ultrasound was normal in 25% of the cases. Bilateral reflux was present in 36 male and 9 female patients. In 10 of the 19 uncircumcised patients (53%) urinary tract infection developed despite antibiotic prophylaxis. In 15 of the 74 renal units with grades III to V reflux the condition resolved at an average patient age of 0.9 and 2.1 years in boys and girls, respectively. A total of 27 refluxing renal units were reimplanted. CONCLUSIONS: The majority of prenatal reflux occurs in boys, and it is high grade and bilateral. The data sheets designed by the Society for Fetal Urology are useful data collection instruments. The presentation and natural history of vesicoureteral reflux are different in male and female individuals. In a significant number of renal units high grade reflux resolves spontaneously. Early circumcision may decrease the incidence of breakthrough urinary tract infection in this subpopulation. In addition, the effective management of prenatally detected reflux depends on multispecialty communication.


Assuntos
Hidronefrose/complicações , Hidronefrose/diagnóstico por imagem , Refluxo Vesicoureteral/diagnóstico , Refluxo Vesicoureteral/etiologia , Feminino , Humanos , Recém-Nascido , Masculino , Avaliação de Resultados em Cuidados de Saúde , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Refluxo Vesicoureteral/terapia
13.
J Urol ; 161(1): 275-80, 1999 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-10037424

RESUMO

PURPOSE: Cryptorchidism is the most common congenital abnormality of the genitalia. However, its exact etiology remains to be defined. Homeobox (HOX) containing genes have a key role in the morphogenesis of segmental structures along the primary body axis, including the urogenital mesenchyma. In male mice with a targeted deletion of the HOXA10 gene cryptorchidism manifests in the absence of other major defects. Because to our knowledge this gene has never been examined for alterations in humans, we evaluated whether mutations of HOXA10 are associated with cryptorchidism in humans. MATERIALS AND METHODS: Genomic deoxyribonucleic acid (DNA) was extracted from human blood or tissue samples from 16 noncryptorchid control subjects and 45 cryptorchid boys. To screen for mutations exons 1 and 2 of the HOXA10 gene were amplified individually by polymerase chain reaction using 6 overlapping oligonucleotide primer pairs. Single strand conformational polymorphism (SSCP) analysis of the amplified radiolabeled DNA fragments was performed. Variant band shifts were detected due to abnormal migration of the denatured DNA fragment compared to controls, suggesting an alteration in the DNA sequence. Sequence analysis of these variant bands was then done to define any mutations. RESULTS: SSCP analysis revealed variants in 2 controls. Of the 45 samples from cryptorchid patients 30 had SSCP variants in exon 1. No variants were found in other regions of the gene. Sequence analysis revealed several DNA polymorphisms in exon 1 in controls and boys with cryptorchidism. Other nucleotide changes (point mutations) were noted only in exon 1 in the DNA of 5 cryptorchid patients, of whom 1 had a 24 nucleotide deletion. CONCLUSIONS: Our initial analysis of the HOXA10 gene in humans demonstrates that genetic alterations of this gene may be present in some boys with cryptorchidism. HOXA10 polymorphisms exist in normal control subjects as well as in cryptorchid patients. Further analysis of the function of the mutated protein will elucidate the role of this gene as a potential causative factor of testicular descent.


Assuntos
Criptorquidismo/genética , Genes Homeobox/genética , Mutação , Criança , DNA de Neoplasias/análise , Humanos , Masculino , Análise de Sequência de DNA
14.
Urology ; 54(6): 1097, 1999 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-10754161

RESUMO

An infant born at 38 weeks' gestation with ambiguous genitalia had a prenatal 45X karyotype but an enlarged phallus on an ultrasound scan at 31 weeks' gestation. The newborn examination demonstrated penoscrotal hypospadias with chordee and two gonads palpable in the scrotum with a right hydrocele. Ultrasound showed a saccular structure containing debris behind the bladder. The postnatal karyotype was revealed to be 45X/46XY, with a pseudodicentric Y chromosome. Cystoscopy/genitography identified a uterus and a right fallopian tube, which were removed along with a dysgenetic right gonad. Biopsy of the descended left gonad revealed rare germ cells. The final diagnosis was 45X/46XY male pseudohermaphroditism with testicular dysgenesis. One should be aware of possible chromosomal mosaicism and combine the prenatal karyotype with the ultrasound genital findings to formulate an intersex differential diagnosis.


Assuntos
Anormalidades Múltiplas/diagnóstico , Transtornos do Desenvolvimento Sexual/diagnóstico , Disgenesia Gonadal 46 XY/diagnóstico , Hipospadia/diagnóstico , Pênis/diagnóstico por imagem , Pênis/embriologia , Anormalidades Múltiplas/cirurgia , Amniocentese , Biópsia , Transtornos do Desenvolvimento Sexual/cirurgia , Tubas Uterinas/cirurgia , Feminino , Humanos , Hipospadia/cirurgia , Recém-Nascido , Cariotipagem , Masculino , Mosaicismo , Testículo/patologia , Ultrassonografia Pré-Natal , Útero/cirurgia
15.
J Urol ; 160(3 Pt 2): 1169-72; discussion 1178, 1998 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-9719302

RESUMO

PURPOSE: The XX male syndrome presents with a spectrum of clinical appearances from phenotypic male individuals to true hermaphrodites. Previous reports established the sex determining region of the Y chromosome (SRY) gene as the testis determining factor. However, a subset of XX sex reversed male individuals exists without a translocation of SRY deoxyribonucleic acid (DNA) material to the X chromosome. In addition to clinical or endocrinological criteria, Y DNA probe studies, and radiological and surgical evaluation as indicated are necessary for an accurate diagnosis. MATERIALS AND METHODS: We evaluated 5 XX sex reversed patients (2 true hermaphrodites and 3 male individuals) by physical examination, pedigree analysis, endocrinological testing, molecular analysis of Y DNA, radiological studies and surgery (exploration and/or biopsy). RESULTS: All patients were SRY gene negative. Two patients were siblings. Complete endocrinological testing was negative in all cases. Two patients had a normal male phenotype. Radiological findings confirmed by cystoscopy or laparoscopy revealed a utricle, vesicoureteral reflux, and cervix and uterus in various patients. Gonadal biopsy showed ovotestes or ovary and testis in the 2 true hermaphrodites. The 3 XX male individuals had normal immature testes on biopsy. CONCLUSIONS: Categories of XX sex reversal include classic XX male individuals with normal phenotypes, nonclassic XX male individuals with sexual ambiguity and XX true hermaphrodites. Simple translocation of the SRY gene to the X chromosome does not always account for testicular differentiation and a male phenotype. The masculinization of our patients in the absence of SRY suggests an alteration of 1 or more downstream Y, X or autosomal testis determining genes. We present another theory for male sex determination, including a downstream gene on the X chromosome in which expression is influenced by X inactivation. Y DNA genomic analysis, radiological studies and laparoscopic evaluation with gonadal biopsy as appropriate are recommended for complete assessment and treatment of these intersex patients.


Assuntos
Transtornos do Desenvolvimento Sexual/genética , Cromossomo X/genética , Cromossomo Y/genética , Transtornos do Desenvolvimento Sexual/diagnóstico , Feminino , Humanos , Masculino
18.
J Urol ; 156(1): 127-32, 1996 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-8648773

RESUMO

PURPOSE: We evaluated 3 indexes used to assess patient co-morbidities to determine whether they could predict mortality among men with clinically localized prostate cancer. MATERIALS AND METHODS: We measured the impact of co-morbidity classifications on all cause mortality using a parametric proportional hazards model based on a retrospective cohort analysis. RESULTS: Each index tested is a highly significant predictor of mortality for patients dying of nonprostate cancer related causes after adjusting for age and Gleason score. CONCLUSIONS: Each co-morbidity index provides significant, independent predictive information concerning patient mortality beyond that provided by age, Gleason score and clinical stage alone.


Assuntos
Neoplasias da Próstata/mortalidade , Idoso , Distribuição de Qui-Quadrado , Estudos de Coortes , Comorbidade , Humanos , Expectativa de Vida , Masculino , Análise Multivariada , Modelos de Riscos Proporcionais , Estudos Retrospectivos
19.
JAMA ; 274(8): 626-31, 1995.
Artigo em Inglês | MEDLINE | ID: mdl-7637143

RESUMO

OBJECTIVE: To determine age-specific, all-cause mortality, disease-specific mortality, and life expectancy for men aged 65 to 75 years who are treated only with immediate or delayed hormonal therapy for newly diagnosed, clinically localized prostate cancer. DESIGN: A population-based, retrospective cohort study. SETTING: Patient records were abstracted from 37 acute care hospitals and two Veterans Affairs medical centers in Connecticut. Original pathology slides were sent to a referee pathologist who was blinded to case outcomes. SUBJECTS: All men identified by the Connecticut Tumor Registry with clinically localized prostate cancer diagnosed in 1971 to 1976 who were aged 65 to 75 years at the time of diagnosis and were untreated or treated with immediate or delayed hormonal therapy. MAIN OUTCOME MEASURES: Parametric proportional hazards models incorporating tumor histologic findings, comorbidity, and age at the time of diagnosis to compare cohort survival with that of men in the general population. RESULTS: After a mean follow-up of 15.5 years, the age-adjusted survival for men with Gleason score 2 to 4 tumors was not significantly different from that of the general population. Maximum estimated lost life expectancy for men with Gleason score 5 to 7 tumors was 4 to 5 years and for men with Gleason score 8 to 10 tumors was 6 to 8 years. Tumor histologic findings and patient comorbidities were powerful independent predictors of survival. CONCLUSIONS: Compared with the general population, men aged 65 to 75 years with conservatively treated low-grade prostate cancer incur no loss of life expectancy. Men with higher-grade tumors (Gleason scores 5 to 10) experience a progressively increasing loss of life expectancy. Case series reports of survival/mortality experienced by men with clinically localized prostate cancer that fail to control for age, tumor histologic features, and comorbidities risk significant bias.


Assuntos
Expectativa de Vida , Neoplasias Hormônio-Dependentes/mortalidade , Neoplasias da Próstata/mortalidade , Idoso , Estudos de Coortes , Humanos , Masculino , Estadiamento de Neoplasias , Neoplasias Hormônio-Dependentes/patologia , Neoplasias Hormônio-Dependentes/terapia , Modelos de Riscos Proporcionais , Neoplasias da Próstata/patologia , Neoplasias da Próstata/terapia , Estudos Retrospectivos , Índice de Gravidade de Doença , Análise de Sobrevida
20.
Int J Fertil Menopausal Stud ; 40(3): 156-60, 1995.
Artigo em Inglês | MEDLINE | ID: mdl-7663542

RESUMO

OBJECTIVE: To investigate the effects of pentoxifylline on cryopreserved human semen of spinal cord injured men, in efforts to enhance post-thaw motility. DESIGN: Semen specimens were collected from: pregnancy-proven donors (n = 10), spinal cord injured (SCI) patients (n = 8), and infertility patients referred for white blood cell (WBC) screening of the semen (n = 18). Following at least 24 hours of freezing in 100% tes and tris-yolk buffer, 0.5-mL semen straws were thawed. Each sample was split into two equal aliquots, one of which was treated with 3.6 mM pentoxifylline. Following incubation, percent motility was recorded manually at 15 minutes, 1 hour, 2 hours, and 24 hours post-thaw. Percent original motility preserved (post-thaw motility/original motility X 100%) was calculated for each specimen. RESULTS: Statistically significant differences (P < .05) were noted in the SCI and WBC patients when samples with and without pentoxifylline were compared at 15 minutes, 1 hour, and 2 hours. No significant difference was noted in the donor population at any time interval, and no difference was seen in any group at 24 hours post-treatment with pentoxifylline. The greatest differential between treatment and control groups was noted at 1 hour in all three populations. CONCLUSIONS: Pentoxifylline enhances post-thaw motility of cryopreserved sperm in male infertility patients from 15 minutes to 2 hours post-treatment. Pentoxifylline appears to be most useful at 1 hour post-treatment in the cryopreserved samples of SCI patients obtained by electroejaculation. It does not appear to have any significant effect on the post-thaw motility of pregnancy- proven donors. Pentoxifylline loses its in vitro efficacy prior to 24 hours post-thaw.


Assuntos
Criopreservação , Pentoxifilina/farmacologia , Motilidade dos Espermatozoides/efeitos dos fármacos , Espermatozoides/fisiologia , Traumatismos da Medula Espinal , Temperatura Alta , Humanos , Masculino , Fatores de Tempo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...