True hermaphroditism associated with microphthalmia.
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A 4-year-old boy with an undescending left testis, penoscrotal hypospadia and bilateral microphthalmia was admitted to our hospital. Chromosome analysis revealed a karyotype of 46, XX del(x)(p2 2,31) and the sex-determining region of the Y chromosome (SRY) was negative. The right testis was located in the scrotum and a left cystic ovary-like gonad, a salpinx and a unicorn uterus were found in the left inguinal canal. Histologically the gonad was an ovotestis in which primordial follicles covered infantile seminiferous tubules. Microphthalmia is observed in some congenital syndromes caused by interstitial deletion of the X chromosome. This case suggested that the short arm of the X chromosome was involved in the differentiation of the gonad. Very closely located follicles and infantile seminiferous tubules indicated that induction of meiosis in the fetus was controlled by the local microenvironment in follicles and seminiferous tubules, and not by the systemic hormonal condition. (+info)
International trends in rates of hypospadias and cryptorchidism.
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Researchers from seven European nations and the United States have published reports of increasing rates of hypospadias during the 1960s, 1970s, and 1980s. Reports of increasing rates of cryptorchidism have come primarily from England. In recent years, these reports have become one focus of the debate over endocrine disruption. This study examines more recent data from a larger number of countries participating in the International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS) to address the questions of whether such increases are worldwide and continuing and whether there are geographic patterns to any observed increases. The ICBDMS headquarters and individual systems provided the data. Systems were categorized into five groups based on gross domestic product in 1984. Hypospadias increases were most marked in two American systems and in Scandinavia and Japan. The increases leveled off in many systems after 1985. Increases were not seen in less affluent nations. Cryptorchidism rates were available for 10 systems. Clear increases in this anomaly were seen in two U.S. systems and in the South American system, but not elsewhere. Since 1985, rates declined in most systems. Numerous artifacts may contribute to or cause upward trends in hypospadias. Possible "real" causes include demographic changes and endocrine disruption, among others. (+info)
Incidence of congenital malformations in children born after ICSI.
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The aim of this study was to determine the incidence of congenital malformations in a complete cohort of children born after intracytoplasmic sperm injection (ICSI). The medical records were retrieved for 1139 infants, 736 singletons, 200 sets of twins and one set of triplets. The total number of infants with an identified anomaly was 87 (7.6%), 40 of which were minor. The incidence of malformations in children born after ICSI was also compared with all births in Sweden using data from the Swedish Medical Birth Registry and the Registry of Congenital Malformations. For ICSI children, the odds ratio (OR) for having any major or minor malformation was 1.75 [95% confidence interval (CI) 1.19-2.58] after stratification for delivery hospital, year of birth and maternal age. If stratification for singletons/twins was also done, the OR was reduced to 1.19 (95% CI 0.79-1.81). The increased rate of congenital malformations is thus mainly a result of a high rate of multiple births. The only specific malformation which was found to occur in excess in children born after ICSI was hypospadias (relative risk 3.0, exact 95% CI 1. 09-6.50) which may be related to paternal subfertility. (+info)
Is the incidence of hypospadias increasing? Analysis of Finnish hospital discharge data 1970-1994.
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Reports suggesting an increasing incidence of male genitourinary anomalies such as hypospadias, possibly related to environmental factors such as environmental estrogen-like compounds, have recently received considerable publicity. These reports are based on birth defects registry data, and there may be variation in the completeness of the registries used. We analyzed temporal trends in the prevalence of hypospadias in Finland to assess the previously reported low overall prevalence and to detect any possible increasing tendencies during the past decade. We identified all patients who were surgically treated for hypospadias before the age of 9 years among boys born 1970-1986 in the national hospital discharge registry. We calculated the cumulative prevalence by dividing the number of patients by the number of male births, and we used Poisson regression analysis. Out of 549,176 boys born in Finland in 1970-1986, 1,543 were treated for hypospadias by the age of 8 years (28.1 surgically treated patients per 10,000 male live births; 95% confidence interval, 26.7-29.5). The prevalence of hypospadias in Finland remained constant throughout the study period and appears to have been approximately three times higher than previously reported. Changes in completeness of registration may account for a substantial proportion of the reported increases in the prevalence of hypospadias in Finland and possibly also elsewhere. (+info)
Abnormalities of the genitourinary tract in female mice lacking GATA5.
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Members of the GATA family of transcription factors play important roles in cell fate specification, differentiation, and morphogenesis during mammalian development. GATA5, the only one of the six vertebrate GATA factor genes not yet inactivated in mice, is expressed in a pattern that overlaps with but is distinct from that of other GATA factor genes. During mouse embryogenesis, GATA5 is expressed first in the developing heart and subsequently in the lung, vasculature, and genitourinary system. To investigate the function of GATA5 in vivo, we created mice homozygous for a GATA5 null allele. Homozygous mutants were viable and fertile, but females exhibited pronounced genitourinary abnormalities that included vaginal and uterine defects and hypospadias. In contrast, the genitourinary system was unaffected in male GATA5 mutants. These results reveal a specific role of GATA5 in development of the female genitourinary system and suggest that other GATA factors may have functions overlapping those of GATA5 in other tissues. (+info)
Hormone-dependent cancer and adverse reproductive outcomes in farmers' families--effects of climatic conditions favoring fungal growth in grain.
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OBJECTIVES: The impact of grain farming and climate on late-term abortion among female farmers, male genital birth defects among their sons, and hormone-dependent cancer among male and female farmers and their adult children was investigated. METHODS: National registers were cross-matched in Norway and 246,043 male and female farmers born in 1925-1971 were identified, as were their 264,262 children, born in 1952-1980, in agricultural censuses and in the population register. The subjects were followed in the Cancer Register through 1995. Farmers' births, conceived in 1973-1991, were identified, and the prevalences of late-term abortion in mothers and hypospadias and cryptorchidism in their sons at birth were examined. Exposure, defined as the combination of grain farming and categories of seasonal or cumulative warnings, was based on data in agricultural censuses and on local, seasonal, field fungal warnings. Estimated adjusted rate ratios or prevalence ratios served as the measures of association. RESULTS: Categories of high exposure were associated with reproductive outcomes and cancer among female farmers, the strongest occurring for late-term abortion (ratio 2.6, 95% confidence interval (95% CI) 1.6-4.3). Exposure associations for ovarian and breast cancer, and male genital defects, were more moderate. Endometrial cancer was associated with grain farming (ratio 2.0, 95% CI 1.4-2.8) across all levels of fungal warnings. Exposure associations for cancer were strongest for premenopausal, parous women. Exposure was not associated with cancer among male farmers or children. CONCLUSIONS: Climatic conditions favoring fungal growth in grain were associated with hormone-dependent adverse outcomes among female farmers; the results are consistent with hormonal effects of inhaled mycotoxins during pregnancy. (+info)
Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.
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BACKGROUND: Although the frequent association between distal 10q monosomy and urogenital anomalies suggests the presence of a gene(s) for urogenital development on distal 10q, molecular deletion mapping has not been performed for the putative gene(s). In this study, we examined genotype-phenotype correlations in patients with distal 10q monosomy. METHODS: This study consisted of six karyotypic males (cases 1 through 6) and four karyotypic females (cases 7 through 10) with 10q26 monosomy. Cases 3 through 5 and 7 through 10 had urinary anomalies such as vesicoureteral reflux and hypoplastic kidney, and cases 1 through 6, 8, and 9 exhibited genital anomalies such as micropenis, hypospadias, cryptorchidism, and hypoplastic labia majora. Fluorescence in situ hybridization (FISH) for 10q telomere, whole chromosome 10 painting, and microsatellite analysis for 35 loci on distal 10q were performed in cases 1 through 8. RESULTS: FISH and whole chromosome painting confirmed distal 10q monosomy in cases 1 through 8. Microsatellite analysis revealed that hemizygosity for the region distal to D10S186 was shared by cases with urinary anomalies and that for the region distal to D10S1248 was common to cases with genital anomalies. Furthermore, it was indicated that PAX2, GFRA1, and EMX2 on distal 10q, in which the deletions could affect urinary and/or genital development, were present in two copies in cases 1 through 8. CONCLUSIONS: The results suggest that a novel gene(s) for urinary development and that for genital development reside in the approximately 20 cM region distal to D10S186 and in the approximately 10 cM region distal to D10S1248, respectively, although it remains to be determined whether the two types of genes are identical or different. (+info)
Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects.
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Numerous reports have recently focused on various aspects of adverse trends in male reproductive health, such as the rising incidence of testicular cancer; low and probably declining semen quality; high and possibly increasing frequencies of undescended testis and hypospadias; and an apparently growing demand for assisted reproduction. Due to specialization in medicine and different ages at presentation of symptoms, reproductive problems used to be analysed separately by various professional groups, e.g. paediatric endocrinologists, urologists, andrologists and oncologists. This article summarizes existing evidence supporting a new concept that poor semen quality, testis cancer, undescended testis and hypospadias are symptoms of one underlying entity, the testicular dysgenesis syndrome (TDS), which may be increasingly common due to adverse environmental influences. Experimental and epidemiological studies suggest that TDS is a result of disruption of embryonal programming and gonadal development during fetal life. Therefore, we recommend that future epidemiological studies on trends in male reproductive health should not focus on one symptom only, but be more comprehensive and take all aspects of TDS into account. Otherwise, important biological information may be lost. (+info)