A high hypospadias rate in The Netherlands

Pierik, Frank H.; Burdorf, Alex; Nijman, J. M.; Keizer‐Schrama, Sabine M.P.F. de Muinck; Juttmann, Rikard E.; Weber, R. F. A.

doi:10.1093/humrep/17.4.1112

Cited by 125 publications

(94 citation statements)

References 29 publications

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“…An English study for the period 1992-1994 (Chambers and Malone 1999) based on a surgical series stated a policy to recommend surgery in virtually all cases of hypospadias. A Finnish study also reported a policy of surgical correction for minor cases (Aho et al 2000), and a small Dutch study for 2000 (Pierik et al 2002) found that 78% of cases had been recommended surgery, including one-quarter of glanular cases. Before the 1980s, a study in Rochester, New York (USA; Sweet et al 1974) on a single hospital series for the period 1940-1970 reported a surgical rate of 24%, with all surgical cases being either penile or with testicular-associated abnormalities, and an international registry study (Kallen et al 1986) reported surgery for 40% of cases in Hungary 1975, 31% in Sweden 1974, and 27% in Denmark in 1974-1976.…”

Section: Implementation Of Guideline To Exclude Glanular Casesmentioning

confidence: 99%

“…A previous international study of registries (Kallen et al 1986) found that in Sweden in 1974, 5% of cases were false positives, and in Hungary in 1975, 21% of cases were false positives. In a recent Dutch study, Pierik et al (2002) trained 30 child health center physicians in a standardized examination of newborns to detect hypospadias. Of the 60 boys referred to the pediatric urologist/endocrinologist as cases of hypospadias, seven had a preputial abnormality only.…”

Section: Implementation Of Guideline To Exclude Glanular Casesmentioning

confidence: 99%

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Toward the effective surveillance of hypospadias.

Dolk

Vrijheid

Scott

et al. 2004

Environ Health Perspect

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Concern about apparent increases in the prevalence of hypospadias--a congenital male reproductive-tract abnormality--in the 1960s to 1980s and the possible connection to increasing exposures to endocrine-disrupting chemicals have underlined the importance of effective surveillance of hypospadias prevalence in the population. We report here the prevalence of hypospadias from 1980 to 1999 in 20 regions of Europe with EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers, 14 of which implemented a guideline to exclude glanular hypospadias. We also report data from the England and Wales National Congenital Anomaly System (NCAS). Our results do not suggest a continuation of rising trends of hypospadias prevalence in Europe. However, a survey of the registers and a special validation study conducted for the years 1994-1996 in nine EUROCAT registers as well as NCAS identified a clear need for a change in the guidelines for registration of hypospadias. We recommend that all hypospadias be included in surveillance, but that information from surgeons be obtained to verify location of the meatus, and whether surgery was performed, in order to interpret trends. Investing resources in repeated special surveys may be more cost-effective than continuous population surveillance. We conclude that it is doubtful whether we have had the systems in place worldwide for the effective surveillance of hypospadias in relation to exposure to potential endocrine-disrupting chemicals.

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Section: Implementation Of Guideline To Exclude Glanular Casesmentioning

confidence: 99%

Section: Implementation Of Guideline To Exclude Glanular Casesmentioning

confidence: 99%

Toward the effective surveillance of hypospadias.

Dolk

Vrijheid

Scott

et al. 2004

Environ Health Perspect

View full text Add to dashboard Cite

show abstract

“…For every marker, single-point and multipoint linkage analyses were obtained using the Allegro software. 33 Corresponding P-values were interpreted according to Lander and Kruglyak, 34 and P-values were estimated using the formula, P(LOD) ¼ 0.5 Â (w 2 1 42ln10 Â LOD). For the association analyses in the Swedish cohort, single marker and multiple-marker association tests were performed using Haploview.…”

Section: Discussionmentioning

confidence: 99%

“…The frequency of hypospadias ranges from 0.3 to 0.8% among male live births in Europe, Asia and North America. [1][2][3] In Sweden, the incidence of hypospadias is 0.3% since the beginning of the 1970s according to the annual Swedish Malformation Registry. 1,4 Hypospadias is considered to be a complex disorder caused by the interplay between environmental factors and effects of multiple genes.…”

Section: Introductionmentioning

confidence: 99%

Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias

et al. 2014

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Hypospadias is a common male genital malformation and is regarded as a complex disease affected by multiple genetic as well as environmental factors. In a previous genome-wide scan for familial hypospadias, we reported suggestive linkage in nine chromosomal regions. We have extended this analysis by including new families and additional markers using non-parametric linkage. The fine mapping analysis displayed an increased LOD score on chromosome 8q24.1 and 10p15 in altogether 82 families. On chromosome 10p15, with the highest LOD score, we further studied AKR1C2, AKR1C3 and AKR1C4 involved in steroid metabolism, as well as KLF6 expressed in preputial tissue from hypospadias patients. Mutation analysis of the AKR1C3 gene showed a new mutation, c.643G4A (p.(Ala215Thr)), in a boy with penile hypospadias. This mutation is predicted to have an impact on protein function and structure and was not found in controls. Altogether, we homed in on four chromosomal regions likely to harbor genes for hypospadias. Future studies will aim for studying regulatory sequence variants in these regions.

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“…Other international studies have suggested an increasing incidence of hypospadias. [1][2][3][4] The etiology is now beginning to be elucidated as mutations in both the MAMLD1 and the ATF3 genes have been identified to cause hypospadias. 5,6 However, most cases of hypospadias remain unexplained.…”

Section: Introductionmentioning

confidence: 99%

Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome

et al. 2011

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Hypospadias is a common congenital malformation in boys in which the urethral meatus opens on the underside of the penis. It is considered a complex disorder with several genes involved and the molecular etiology is just beginning to be revealed. As more than 85% of Opitz G/BBB syndrome (OS) patients with MID1 mutations are manifested with hypospadias, we have investigated the association between the MID1 gene and hypospadias. DNA from 114 hypospadias cases was analyzed with direct sequencing of the MID1 gene. Genotyping analysis was performed for the single-nucleotide polymorphism (SNP) c.1230G4A in 370 individuals with varying degrees of hypospadias and compared with 759 healthy controls. We identified one nonsense mutation c.712G4T (p.E238X), one missense mutation c.1679A4G (p.K560R) and two synonymous variants c.1230G4A (p.S410S) and c.1284T4G (p.V428V). We also detected a significant difference in the rare allele frequency of SNP c.1230G4A in hypospadias patients as compared with controls (P¼0.016). Our finding suggests that hypospadias associated with hypertelorism is the mildest phenotype in OS caused by MID1 mutations.

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A high hypospadias rate in The Netherlands

Cited by 125 publications

References 29 publications

Toward the effective surveillance of hypospadias.

Toward the effective surveillance of hypospadias.

Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias

Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome

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