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1.
Int J Androl ; 35(1): 41-5, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21651571

RESUMO

Acquired undescended testis is now a well-recognized disorder. It is seen in 1.5% of pre-pubertal boys and accounts for the 1-2% orchidopexy rate in older boys. Its pathogenesis remains largely unclear, but it may be caused by a fibrous remnant of the processus vaginalis. There is much controversy over its management, and the proper management awaits a randomized-controlled trial. Until now, follow-up data are available only for cases of spontaneous descent or pubertal orchidopexy. It is speculated that acquired undescended testis is in fact congenital and because of a short funiculus at birth, allowing a low-scrotal position early in life. However, as the boy grows, the testis might evolve into an undescended state. When testosterone surges at puberty, spontaneous descent occurs in three of every four cases.


Assuntos
Criptorquidismo/fisiopatologia , Humanos , Infertilidade Masculina , Masculino , Neoplasias Testiculares/epidemiologia , Neoplasias Testiculares/fisiopatologia
2.
J Urol ; 186(5): 2050-4, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21944090

RESUMO

PURPOSE: We used ultrasound to determine the volume of retractile testes in boys and compared these volumes with normative testicular volume values. MATERIALS AND METHODS: A total of 171 boys were enrolled in the study, of whom 14 were excluded from analysis. The 157 boys included (age 0.8 to 11.5 years) were recruited from 2 different populations. The first subgroup comprised 92 boys previously excluded from a study aimed at obtaining normative values of ultrasonographically scanned testes. The second group included 65 boys who had been referred to our outpatient clinic for nonscrotal testis and who were diagnosed with retractile testis. Testicular volume was measured by ultrasound in a scrotal position or in an inguinal position. Three separate transverse and longitudinal images of each testis were recorded. Length, width and height were measured, and the volume was calculated with the formula for an ellipsoid, π/6 × length × width × height. The highest value of the 3 testicular volumes was determined and taken as the volume measurement. RESULTS: The volumes measured by ultrasound for the 157 boys with 276 retractile testes ranged from 0.18 to 1.49 ml (mean 0.50). The volumes of the retractile testes were significantly smaller than normative values (p <0.001). Furthermore, the testicular volumes of retractile testes measured in an inguinal position were significantly smaller than those measured in a scrotal position (p <0.001). CONCLUSIONS: The volumes of retractile testes are significantly smaller than recently determined normative values.


Assuntos
Testículo/patologia , Criança , Pré-Escolar , Criptorquidismo/patologia , Humanos , Lactente , Masculino , Tamanho do Órgão , Valores de Referência , Testículo/diagnóstico por imagem , Testículo/fisiologia , Ultrassonografia
3.
J Urol ; 182(4): 1516-20, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19683752

RESUMO

PURPOSE: We assessed the prevalence of testicular microlithiasis via ultrasound in asymptomatic males 0 to 19 years old. MATERIALS AND METHODS: We studied only patients with 2 scrotal testes at birth and at examination. We excluded boys with a history of undescended testis, hydrocele, varicocele and syndromes associated with testicular microlithiasis. To assess for testicular microlithiasis, we scanned the scrotum ultrasonographically by recording transverse and longitudinal images of each testis. Classic testicular microlithiasis was defined as 5 or more echogenic foci in either or both testes. Boys with fewer than 5 microliths (but with at least 1) were deemed to have limited testicular microlithiasis. RESULTS: We examined 694 asymptomatic boys between October 2007 and July 2008, of whom 670 participated in the study. Classic testicular microlithiasis was present in 16 boys (2.4%) and limited testicular microlithiasis in 12 (1.8%), yielding a total prevalence of 4.2%. Classic testicular microlithiasis was found in 1 patient younger than 6 years, 8 boys 6 to 12 years old and 7 boys older than 12 years. There was a significant difference in prevalence among the 3 age groups (p = 0.032). Testicular malignancies were not found in any patient. Of the 24 boys excluded from the study testicular microlithiasis was seen in 4. CONCLUSIONS: The prevalence of classic testicular microlithiasis in asymptomatic boys is 2.4% and increases with age.


Assuntos
Litíase/epidemiologia , Doenças Testiculares/epidemiologia , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Masculino , Prevalência , Estudos Prospectivos , Adulto Jovem
4.
Urol Int ; 83(4): 438-45, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19996652

RESUMO

AIM: We aimed to investigate long-term testicular growth and the position of congenital undescended testes (UDT) after orchidopexy (ORP), taking into account that nowadays UDT has to be divided into congenital and acquired forms. METHODS: This study included 181 patients with 199 congenital UDT (91 right-sided, 72 left-sided, 18 bilateral), in whom ORP had been carried out (1986-2006). Long-term testicular position and growth were assessed by clinical examination and ultrasound (US). RESULTS: In 44.5% (65/146), testicular volume of the unilaterally operated congenital UDT was >50th percentile for age. In 55.5% (81/146), the volume was < or =50th percentile, and 13.0% (19/146) of these were < or =10th percentile. In 7 of 34 (20.6%) bilaterally operated congenital UDT, testicular volume was < or =10th percentile. The difference in size between the operated congenital UDT and the contralateral non-operated testes measured by both Prader orchidometer (p = 0.00) and US (p = 0.00) was statistically significant. There was a strong correlation between the orchidometer and US. On examination, 87.9% (175/199) of the operated testes were located in the lower scrotum. CONCLUSION: The findings of this study suggest that ORP for congenital UDT is safe, and even when performed later than current recommendations did not result in severe growth retardation.


Assuntos
Criptorquidismo/cirurgia , Testículo/anatomia & histologia , Testículo/crescimento & desenvolvimento , Criança , Pré-Escolar , Seguimentos , Humanos , Lactente , Masculino , Tamanho do Órgão , Estudos Retrospectivos , Fatores de Tempo
5.
Int J Androl ; 31(1): 1-11, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17488243

RESUMO

We performed a systematic review and critique of the literature on the frequency of undescended testis (UDT) among boys from birth to adolescence. Special attention was given to whether previous testicular position was taken into account to distinguish between congenital and acquired UDT. We searched Medline, Embase, Cinahl and the Cochrane Library. Any study reporting on the frequency of UDT was included. Study population age, number of boys studied, period of examination, primary examiner, area of study, study design, ethnicity, definitions used and previous testicular position were analysed. A total of 46 studies met the inclusion criteria. Twenty-three of the 46 (50%) studies involved newborns. Definitions were described in half of the studies; however, the definitions used were heterogeneous. Previous testis position was described in 11% (5/46) of the studies. At birth, in term and/or birth weight >2.5 kg infants, the UDT rate ranged from 1.0 to 4.6%, and in premature and/or birth weight <2.5 kg infants from 1.1 to 45.3%. At the age of 1 year UDT in term and/or birth weight >2.5 kg infants was seen in 1.0-1.5%, at 6 years in 0.0-2.6%, at 11 years in 0.0-6.6% and at 15 years in 1.6-2.2% of boys. The frequency of UDT shows variable figures in the literature. The actual frequency of acquired UDT essentially remains unclear because of the shortage of studies performed at an older age, and of studies reporting on previous testicular position.


Assuntos
Criptorquidismo/epidemiologia , Distribuição por Idade , Criptorquidismo/etnologia , Humanos , Incidência , Masculino , Terminologia como Assunto
6.
Ned Tijdschr Geneeskd ; 152(5): 246-52, 2008 Feb 02.
Artigo em Holandês | MEDLINE | ID: mdl-18333538

RESUMO

--Undescended testis (UDT) is one of the most common urogenital abnormalities in boys. --UDT is defined as a testis which cannot be brought into a stable scrotal position. --At present, congenital and acquired forms of UDT are recognised. Congenital UDT is defined as a UDT which has never descended from birth. Acquired UDT is defined as a UDT which has been fully descended in the past. --Congenital UDT should be treated surgically between 6 to 12 months of age. --The treatment of acquired UDT is still disputed. As yet, awaiting spontaneous descent at early puberty seems to be the most rational treatment. --In the Netherlands, the high number of late orchidopexies is due to surgery for acquired UDT. To reduce this high number, the guidelines of the first development conference on 'non-scrotal testis' dating back to 1986 should be revised on several points.


Assuntos
Desenvolvimento do Adolescente/fisiologia , Criptorquidismo/terapia , Puberdade/fisiologia , Testículo/crescimento & desenvolvimento , Adolescente , Criança , Pré-Escolar , Criptorquidismo/cirurgia , Humanos , Lactente , Masculino , Remissão Espontânea , Escroto/cirurgia
7.
Eur J Med Genet ; 49(1): 19-27, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16473306

RESUMO

A female infant with dysmorphic facial features, psychomotor retardation, and clitoris hypertrophy is described. Molecular cytogenetic analyses revealed a de novo unbalanced translocation, causing partial monosomy 1p36 and partial trisomy 18q22. Monosomy 1p was confirmed by FISH, and trisomy of the distal part of chromosome 18q was demonstrated by microFISH. Gene copy number changes in these chromosomal regions were determined by array-CGH. The absence of a number of facial dysmorphic signs, and the presence of clitoris hypertrophy indicate that the combination of a del(1p36->pter) with a dup(18q22->qter) may lead to a unique phenotypic constellation. The findings at birth and at age 12 years in our patient are compared with genotype-phenotype correlations discussed in the literature.


Assuntos
Transtornos Cromossômicos/genética , Cromossomos Humanos Par 18 , Cromossomos Humanos Par 1 , Clitóris/anormalidades , Deficiência Intelectual/genética , Translocação Genética , Virilismo , Anormalidades Múltiplas/genética , Transtornos Cromossômicos/patologia , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido
8.
Ned Tijdschr Geneeskd ; 149(53): 2982-4, 2005 Dec 31.
Artigo em Holandês | MEDLINE | ID: mdl-16425853

RESUMO

A 16-year-old boy had rectal blood loss due to haemorrhagic colitis probably resulting from oral and intravenous administration of amoxicillin. He also had haemolytic anaemia and thrombocytopenia, both also most likely resulting from the use of amoxicillin and/or ibuprofen. In the week following the discontinuation of amoxicillin and ibuprofen, the symptoms of bloody diarrhoea disappeared spontaneously and the blood picture became normal. Haemorrhagic colitis is a known side effect of amoxicillin that is rarely seen. Discontinuation of treatment typically results in a quick and uneventful recovery.


Assuntos
Amoxicilina/efeitos adversos , Antibacterianos/efeitos adversos , Colite/induzido quimicamente , Hemorragia Gastrointestinal/induzido quimicamente , Adolescente , Anemia Hemolítica/induzido quimicamente , Colite/diagnóstico , Diagnóstico Diferencial , Hemorragia Gastrointestinal/diagnóstico , Humanos , Masculino , Trombocitopenia/induzido quimicamente
9.
Ned Tijdschr Geneeskd ; 149(50): 2765-9, 2005 Dec 10.
Artigo em Holandês | MEDLINE | ID: mdl-16385826

RESUMO

Three boys aged 8, 5, 3 and 9 years, respectively, appeared to have urethral meatal stenosis. In the first patient this appeared during a check-up following treatment for balanitis. Patient history revealed that his micturition duration was longer than before. In the second patient, who underwent surgical correction for hypospadia, it was discovered because he took longer to urinate than his brother. In the third patient stenosis was observed during an appointment for a retracted testicle; he had been circumcised earlier for cultural reasons. Meatomy was performed under anaesthesia in all 3 patients, after which the micturition duration and stream velocity were normal. The third patient continued to have an extremely large bladder capacity and residual volume. Meatal stenosis may lead to obstructive uropathy, urinary tract infection and eventually damage to renal parenchyma. Symptomatic presentation can be late. Diagnostic tests include urine analysis and culture, and uroflowmetry. Visual inspection by spreading the meatal dimple to visualise a pinhole urethra cannot be overemphasised.


Assuntos
Estreitamento Uretral/diagnóstico , Transtornos Urinários/diagnóstico , Balanite (Inflamação)/complicações , Criança , Pré-Escolar , Diagnóstico Diferencial , Humanos , Hipospadia/complicações , Masculino , Exame Físico , Resultado do Tratamento , Estreitamento Uretral/complicações , Estreitamento Uretral/cirurgia , Micção/fisiologia , Transtornos Urinários/etiologia , Transtornos Urinários/cirurgia
10.
Ned Tijdschr Geneeskd ; 149(2): 78-81, 2005 Jan 08.
Artigo em Holandês | MEDLINE | ID: mdl-15688838

RESUMO

Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3. It is characterised by multiple basal cell carcinomas, keratocysts of the jaws, palmar and plantar pits, cerebral ectopic calcification and several skeletal anomalies. Occasionally, patients with NBCCS develop other neoplasms, particularly medulloblastomas and ovarian fibromas, indicating that the PTCH gene is a tumor-suppressor gene. Early recognition and careful follow-up are needed. Guidelines for managing these patients are presented.


Assuntos
Síndrome do Nevo Basocelular/genética , Cromossomos Humanos Par 9 , Genes Supressores de Tumor , Proteínas de Membrana/genética , Receptores de Superfície Celular/genética , Cromossomos Humanos Par 9/genética , Mutação em Linhagem Germinativa , Humanos , Receptores Patched , Receptor Patched-1 , Linhagem
11.
Andrology ; 3(4): 677-84, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26084887

RESUMO

The aim of this study was to evaluate testicular function in men with previous acquired undescended testis (UDT) in whom orchiopexy was performed at diagnosis compared with a similar group of men in whom spontaneous descent was awaited until puberty. Secondly, we examined the influence of age at orchiopexy on fertility parameters in adult life. A total of 169 men of the 'orchiopexy at diagnosis' group and 207 men of the 'wait and see' protocol group were invited for participation. All participants underwent an andrological evaluation, including medical history, physical examination, scrotal ultrasound, determination of reproductive hormones, and semen analysis. Results were compared for men in whom orchiopexy was performed at diagnoses with men in whom spontaneous descent was awaited until puberty followed by orchiopexy in case of non-descent. In the 'orchiopexy at diagnosis' group, 63 men of whom 14 with bilateral UDT, and in the 'wait and see' protocol group, 65 men of whom 15 with bilateral UDT were included. For unilateral UDT Inhibin B was found to be significantly lower and median progressive motility was higher in men with orchiopexy at diagnosis. For bilateral UDT, semen concentration and progressive motility showed a trend toward a favorable outcome for orchiopexy at diagnosis. Age at orchiopexy being under or above 10 years of age had no significant influence on the fertility potential. The outcome of physical examination, scrotal ultrasound, endocrine function, and semen analysis indicates a compromised fertility potential in men with previous acquired UDT. None of the protocols proved to be superior. For bilateral UDT, a trend toward favorable outcome of orchiopexy at diagnosis was seen. Furthermore, age at orchiopexy did not have an influence on fertility parameters. Therefore, in our opinion a 'conservative policy' is warranted for unilateral UDT, especially because over 50% of acquired UDT descend spontaneously.


Assuntos
Criptorquidismo/cirurgia , Fertilidade , Orquidopexia , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Criptorquidismo/diagnóstico , Hormônios Gonadais/sangue , Humanos , Masculino , Análise de Regressão , Estudos Retrospectivos , Análise do Sêmen , Conduta Expectante , Adulto Jovem
14.
Ned Tijdschr Geneeskd ; 146(12): 563-6, 2002 Mar 23.
Artigo em Holandês | MEDLINE | ID: mdl-11938580

RESUMO

OBJECTIVE: To determine the previous testicular position in boys, in whom orchidopexy was performed for undescended testis. DESIGN: Retrospective, descriptive. METHOD: All boys, aged 0-18 years, who underwent orchidopexy in the Alkmaar Medical Centre, the Netherlands, during the period 1986-1999, were studied. The following information was obtained from the hospital medical records: indication for operation, date of the operation, laterality (unilateral or bilateral), the surgical findings and whether previous testicular position played a role in the decision to perform orchidopexy. For each boy who underwent orchidopexy for undescended testis, previous testicular positions up until the date of the operation were obtained from the appropriate youth health care institutions. RESULTS: Hospital records were available for 851 boys who had undergone orchidopexy. The operation for undescended testis was performed in 717 boys and previous testicular positions were obtained for 565 boys. On a per testicle basis, 707 operations were carried out (142 bilaterally, 205 left-sided, 218 right-sided). From these 707 testes, a previous intrascrotal position was found at least once in 572 (80.9%), at least twice in 493 (69.7%) and at least three times in 419 (59.3%); 135 (19.1%) testes had never been intrascrotal. The majority of previously undescended testes were operated on at 3 years of age; most operations on previously descended testes were performed at 10.5 years of age. For 344 (48.7%) out of 707 testes, previous testis localisation was known in the hospital's medical records, for 96 (13.6%) testes registration was unclear and in 267 (37.8%) testes it was not reported. In 8 (1.4%) boys, testis registration after the birth was used on referral to document previous testicular position. CONCLUSION: In total 80.9% of all orchidopexy operations were performed on testes that had previously been diagnosed as having descended normally. These probably included retractile testes as well as acquired forms. In 51.3% of the cases, previous testicular position was not known in the hospital's medical records at the time of operation.


Assuntos
Criptorquidismo/cirurgia , Adolescente , Criança , Pré-Escolar , Criptorquidismo/diagnóstico , Criptorquidismo/etiologia , Humanos , Lactente , Recém-Nascido , Masculino , Países Baixos , Estudos Retrospectivos
15.
Ned Tijdschr Geneeskd ; 158: A7503, 2014.
Artigo em Holandês | MEDLINE | ID: mdl-25096033

RESUMO

BACKGROUND: Prader-Willi syndrome is characterised by hyperphagia and binge eating, without regurgitation. CASE DESCRIPTION: We present a 16-year-old girl with Prader-Willi syndrome exhibiting loss of appetite, stomach ache and regurgitation. Gastro-enteritis was suspected. However, she rapidly developed severe septic shock. During emergency surgery, a fully necrotic and ruptured stomach was seen. Despite respiratory, haemodynamic and surgical efforts, the patient died of necrotic intestinal bleeding. CONCLUSION: Binge eating or deviant gastric homeostasis could account for the relatively high incidence of gastric necrosis in patients with Prader-Willi syndrome. Loss of appetite and regurgitation in patients with this syndrome should be considered as warning signs of a possible life-threatening disorder.


Assuntos
Síndrome de Prader-Willi/complicações , Gastropatias/patologia , Adolescente , Evolução Fatal , Feminino , Humanos , Necrose , Gastropatias/etiologia
17.
J Pediatr Urol ; 8(5): 459-69, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21856234

RESUMO

OBJECTIVE: After review of the pediatric literature, we report on the prevalence of testicular microlithiasis and its relation with benign and malign entities. We provide a guideline for the management of boys with testicular microlithiasis. MATERIALS AND METHODS: The databases searched were Medline, Web of Science, Embase and the Cochrane Library. Data on the rates of testicular microlithiasis were collected and from each study information was extracted on the study population according to country, study design, diagnostic method, type of patient, number of patients, age, associated anomalies, additional diagnostic methods and follow-up information. From the 472 articles, we selected 126 articles as potentially relevant, of which 57 were included. RESULTS: In asymptomatic boys, the prevalence of testicular microlithiasis is 4.2% and in symptomatic referrals it is 1.6%. The development of a testicular malignancy is occasionally reported after diagnosis of testicular microlithiasis. The management of boys with testicular microlithiasis varies widely. Most authors recommend regular self-examination, and some perform testicular ultrasound and/or screen tumor markers. CONCLUSION: The prevalence of testicular microlithiasis in boys varies between 1.1% and 4.2%. For follow-up, regular self-examination is advised from the age of 15 years.


Assuntos
Gerenciamento Clínico , Litíase , Doenças Testiculares , Saúde Global , Humanos , Litíase/diagnóstico , Litíase/epidemiologia , Litíase/terapia , Masculino , Prevalência , Doenças Testiculares/diagnóstico , Doenças Testiculares/epidemiologia , Doenças Testiculares/terapia
18.
Indian J Urol ; 28(2): 211-2, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22919144

RESUMO

A nine and 13-year-old boy, previously diagnosed with 18q syndrome and an 11q deletion, respectively were diagnosed with testicular microlithiasis (TM). Both cases demonstrate that TM occurs in patients with various chromosomal abnormalities.

19.
Horm Res Paediatr ; 76(1): 56-64, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21464560

RESUMO

BACKGROUND/AIMS: We obtained reference data for testicular volume measured by ultrasound in asymptomatic boys aged 0.5-18 years. In addition, we assessed the validity of the Prader orchidometer per age group by correlating it with the volume measurement by ultrasound. METHODS: The study only included healthy boys with two scrotal testes at birth and at the time of the examination. For each boy the testicular volume of both testes was measured by ultrasound and the Prader orchidometer. Testicular volumes were measured for boys aged from 1 to 18 years. The boys' ages were rounded down to the last birthday if it had occurred less than 6 months previously or rounded up to the next birthday if it was going to be within 6 months. RESULTS: The volume measurement by the Prader orchidometer according to reference curves showed a statistically significant correlation. Moreover, the testicular volumes measured by the Prader orchidometer showed an accurate goodness of fit with US measurements (R(2) = 0.956). CONCLUSION: Normative values are provided for testicular volume measured by ultrasound in boys aged 0.5-18 years. An accurate correlation was found between volume measurements by ultrasound and by the Prader orchidometer (R(2) = 0.956). Therefore, volume measurement by the Prader orchidometer, as generally used in the practice by doctors, can be used as a valid parameter for monitoring testicular growth.


Assuntos
Testículo/diagnóstico por imagem , Testículo/crescimento & desenvolvimento , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Masculino , Tamanho do Órgão , Valores de Referência , Ultrassonografia
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