1/459. Bilateral wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. Mutations in the WT1 gene causing Wilms tumors were first reported in wagr syndrome (wilms tumor, aniridia, Genitourinary malformation, mental Retardation) and Denys Drash syndrome (pseudohermaphroditism, wilms tumor, nephropathy), but only in a few patients with hypospadias and cryptorchidism without other signs of Denys Drash (DDS) or wagr syndrome WT1 mutations were identified. We report a boy, who was born in 1989 with hypospadias and bilateral cryptorchidism. Previous karyotyping and endocrine studies had ruled out any known cause of male pseudohermaphroditism. Subsequently, he developed a bilateral wilms tumor, which was detected by palpation at the age of 15 months during a routine visit by the general pediatrician. Because of its extensive size, surgery and chemotherapy were needed for treatment. Analysis of the WT1 gene was performed 5 y after diagnosis and revealed a C to T transition in one allele generating a stop codon at codon 362 and subsequently leading to a truncated protein with loss of its ability to bind to dna. No signs of DDS or wagr syndrome are present in the boy. The work up of this patient and the so far known few comparable cases from the literature lead to the conclusion that in newborns with severe urogenital malformations not due to known chromosomal or endocrine disorders mutational screening of the WT1 gene should be performed, to evaluate the high risk of developing a wilms tumor. We favor mutational screening in these patients as an easy tool for investigation, because in the future it will probably decrease the necessity of frequent control visits in patients without a WT1 mutation. ( info) |
2/459. life-threatening germ cell tumor arising in cryptorchidism: a case report. We report a case of life-threatening germ cell tumor in abdominal cryptorchidism. A 32-year-old man presented with a three-month history of dyspnea, loss of appetite, general weakness and a large abdominal mass. physical examination revealed vacancy of the right scrotal contents. Chest radiograph showed massive left pleural effusion. Abdominal ultrasound revealed ascites, right hydronephrosis and the presence of an 18 x 15-cm heterogeneous echogenic mass in the upper abdomen and right iliac fossa. Abdominal computerized tomography (CT) revealed the presence of a large heterogeneous tumor and an enlarged (4 x 4-cm) retroperitoneal lymph node. Sonoguided needle biopsy of the abdominal mass demonstrated malignant cells of an uncertain type and origin. serum alpha-fetoprotein (AFP) and beta-human chorionic gonadotropin (beta-HCG) concentrations were elevated. Under the diagnosis of metastatic nonseminomatous germ cell tumor in abdominal cryptorchidism, the patient received three cycles of cisplatin-based combination chemotherapy followed by resection of the abdominal residual cryptorchid tumor. Histologically, the tumor showed marked necrosis without viable cancer. The patient had remained free of disease for seven months following surgery. ( info) |
3/459. Long arm deletion of chromosome 10 in a boy with monorchidism. We report on a boy with long-arm deletion of chromosome 10 and compare this case to 10 previously reported patients. He had right cryptorchidism and absence of the left testis, but the size of his penis was normal. cytogenetic analysis of the case showed the deficiency of 10q26.1-26.3 and the presence of 10qter. Four of 10 previously reported patients had an intersex phenotype, and all others had combinations of cryptorchidism, micropenis and hypospadias. These facts indicate that the terminal of chromosome 10q is strongly associated with abnormal male development. ( info) |
4/459. Embryonal renal remnant in the gubernaculum testis. We present a rare case of embryonal renal remnant found by chance as a mass in the gubernaculum testis during an operation on a right undescended testis. We discuss the relationship between this tissue and paradidymis or supernumerary kidney. ( info) |
5/459. seminoma associated with bilateral cryptorchidism in Down's syndrome: a case report. BACKGROUND: A case of testicular typical seminoma associated with bilateral undescended testes in Down's syndrome is reported. A 42-year-old institutionalized male patient developed left testicular seminoma with retroperitoneal metastasis. methods/RESULTS: Neither adjuvant chemotherapy nor radiotherapy were performed due to his severe mental retardation. He died as a result of the cancer 2 years after a left radical orchiectomy and an autopsy was carried out. DISCUSSION: Recently an increase in the incidence of the association of testicular tumors and Down's syndrome has been repeatedly documented. Thirty-six cases of testicular tumors associated with Down's syndrome have been reported and of these 17.1% had cryptorchidism. This is a much lower percentage considering the high risk of cryptorchidism in males with Down's syndrome. The relationship between testicular germ cell tumors associated with cryptorchidism and Down's syndrome is discussed. ( info) |
6/459. The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case. Hu et al. (1996) and Laporte et al. (1997) recently proposed a novel contiguous gene syndrome of myotubular myopathy, abnormal male genital development and deletion in Xq28. We studied a family where two male infants, both deceased, had myotubular myopathy and intersexual genitalia. Using FISH we detected in the mother a hemizygous deletion including the myotubularin gene MTM1 and F18 (a gene of yet unknown function). dna studies with STR-markers (short tandem repeats) within and flanking the deleted segment confirmed the deletion in the family and were used for prenatal diagnosis. Our findings confirm the existence of this novel contiguous gene syndrome and support that the deletion of the F18 gene, or a neighboring gene, may cause ambiguous genitalia or severe hypospadias in males. The mother had low muscle power and marked menstrual irregularities which may indicate that she is a manifesting carrier and that the deletion may include a gene (F18 or other) for gonadal function in females. ( info) |
7/459. Testicular adrenal rests: evidence for luteinizing hormone receptors and for distinct types of testicular nodules differing for their autonomization. We report one patient with 21-hydroxylase deficiency and associated bilateral macro-orchidism caused by nodular hyperplasia of testicular adrenal rests (TAR). The boy, referred to us when 10 years old, was born with bilateral cryptorchidism that was treated unsuccessfully with i.m. injections of human chorionic gonadotropin (hCG) and later on with orchidopexy. He was treated with oral dexamethasone (0.625 mg per day) for the following 13 years. After one year, there was a marked reduction in steroid hormone levels (17-hydroxyprogesterone (17-OH P) from 27.2 to 1.2 nmol/l, testosterone from >104 to 4.8 nmol/l, estradiol (E(2)) from 481 to 33 pmol/l). After the same period of time, both testicular volume and nodularity decreased: from 45 to 18 ml and from numerous to four nodules in the right testis, and from 40 to 13 ml and from numerous to three nodules in the left testis. At the third year, there were transient increases in serum gonadotropins, testicular volume (right testis = 25 ml, left testis = 20 ml) and steroid hormones, including cortisol (serum ACTH and dehydroepiandrosterone sulfate remained suppressed). At the fourth year of follow-up, there were still four nodules in the right testis and three in the left testis. The LH-dependency (which implies possession of LH/hCG receptors) of these nodules was also substantiated by their steroidogenic response to an acute i.m. hCG test. An exogenous ACTH stimulation test increased serum 17-OH P and cortisol. Since these nodules, unlike the majority of those present initially, were not suppressed by the corticosteroid therapy and since they were not detected when the patient returned for control at 23 years of age, they had partial autonomy from ACTH. At 23 years of age, the patient had a single nodule in the right testis (right testis volume = 13 ml, left testis volume = 10 ml), which should have accounted for the consistent difference in size between the two gonads. serum LH was about 7 mU/l and FSH about 23 mU/l. The responsiveness of plasma steroid hormones to hCG had changed quantitatively and qualitatively. Secretion of cortisol was absent, secretion of 17-OH P and testosterone was reduced, and secretion of E(2) was much increased. The ACTH stimulation test showed that serum cortisol did not respond, while the other steroids responded in the order of 17-OH P>E(2)> testosterone. We conclude that there were three different groups of TAR when the patient was already 10 years old: (i) ACTH-sensitive (the majority), (ii) partially ACTH-insensitive but LH/hCG-sensitive (three nodules in the left testis and three in the right testis), (iii) almost entirely ACTH-insensitive and partially hCG-insensitive (a single nodule in the right testis). Probably, the never suppressed gonadotropin levels (presumably due to the bilateral testicular damage subsequent to the cryptorchid state) and the hCG therapy were major etiological factors for the appearance of the second and third population of TAR. ( info) |
8/459. Psychoendocrine sequelae of chronic testosterone deficiency. The precise role of testosterone in regulating mood, especially in alleviating depression, remains unclear although converging evidence indicates that androgens may exert antidepressant action. A model that may potentially assist in the clarification of androgen-mediated effects on mood is the study of cryptorchid men who may grow up with varying degrees of testosterone deficiency depending on the time in their life when cryptorchism is corrected. In this report, we describe a rare case of bilateral cryptorchism that did not come to the attention of the physician to implement effective substitution with testosterone until much later in adult life. The patient developed severe and suicidal depression which responded solely to testosterone. In addition, the patient experienced a delayed but accelerated puberty without any adverse events. These observations, although based on a single case, provide strong evidence that testosterone may exert powerful antidepressant action in the absence of concomitant antidepressant agents. ( info) |
9/459. Perlman syndrome: four additional cases and review. Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually wilms tumor. ( info) |
10/459. Laparoscopic diagnosis and treatment of splenogonadal fusion associated with intra-abdominal cryptorchidism in a child. The authors describe the surgical findings and laparoscopic treatment in a child with splenogonadal fusion associated with intra-abdominal cryptorchidism. laparoscopy was shown to be an excellent method for the diagnosis and treatment of this condition. No reports of similar cases using the technique were found in the literature. ( info) |