Heredity of Hypospadias and the Significance of Low Birth Weight

Fredell, Louise; Kockum, Ingrid; Hansson, Einar; Holmner, Staffan; Lundquist, Lars; Läckgren, Göran; Pedersen, J.; Stenberg, Arne; Westbacke, Gunnar; Nordenskjöld, Agneta

doi:10.1016/s0022-5347(05)65334-7

Cited by 128 publications

(54 citation statements)

References 26 publications

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“…Previous studies have reported ethnic variations in the occurrence of cryptorchidism and hypospadias (Chia et al 2003; Fredell et al 2002). Familial aggregation has been described for both abnormalities, supporting the importance of genetic factors (Fredell et al 2002; Weidner et al 1999).…”

Section: Discussionmentioning

confidence: 99%

Maternal and Paternal Risk Factors for Cryptorchidism and Hypospadias: A Case–Control Study in Newborn Boys

Pierik

Burdorf

Deddens

et al. 2004

Environ Health Perspect

245

208

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Little is known on environmental risk factors for cryptorchidism and hypospadias, which are among the most frequent congenital abnormalities. The aim of our study was to identify risk factors for cryptorchidism and hypospadias, with a focus on potential endocrine disruptors in parental diet and occupation. In a case–control study nested within a cohort of 8,698 male births, we compared 78 cryptorchidism cases and 56 hypospadias cases with 313 controls. The participation rate was 85% for cases and 68% for controls. Through interviews, information was collected on pregnancy aspects and personal characteristics, lifestyle, occupation, and dietary phytoestrogen intake of both parents. Occupational exposure to potential endocrine disruptors was classified based on self-reported exposure and ratings of occupational hygienists based on job descriptions. Our findings indicate that paternal pesticide exposure was associated with cryptorchidism [odds ratio (OR) = 3.8; 95% confidence interval (95% CI), 1.1–13.4]. Smoking of the father was associated with hypospadias (OR = 3.8; 95% CI, 1.8–8.2). Maternal occupational, dietary, and lifestyle exposures were not associated with either abnormality. Both abnormalities were associated with suboptimal maternal health, a lower maternal education, and a Turkish origin of the parents. Being small for gestational age was a risk factor for hypospadias, and preterm birth was a risk factor for cryptorchidism. Because paternal pesticide exposure was significantly associated with cryptorchidism and paternal smoking was associated with hypospadias in male offspring, paternal exposure should be included in further studies on cryptorchidism and hypospadias risk factors.

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Section: Discussionmentioning

confidence: 99%

Maternal and Paternal Risk Factors for Cryptorchidism and Hypospadias: A Case–Control Study in Newborn Boys

Pierik

Burdorf

Deddens

et al. 2004

Environ Health Perspect

245

208

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“…One study retrospectively compared the birth weights of boys in Sweden who had been operated on for hypospadias with that of their brothers without hypospadias, thus correcting for genetic potential [14]. Boys with hypospadias were found to have birth weights on average 100 g lower than their healthy brothers.…”

Section: Hypospadiasmentioning

confidence: 99%

“…However, the factors that contribute to the risk of one monozygotic twin suffering from hypospadias are as yet unknown. Fredell et al [14] have suggested that this increased risk may be due to a relative insufficiency of human chorionic gonadotrophin, resulting in an inability of the placenta to produce sufficient levels of androgens for both twins.…”

Section: Hypospadiasmentioning

confidence: 99%

Low Birth Weight and Male Reproductive Function

et al. 2006

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Scientific interest in morbidity in children born small for gestational age (SGA) has increased considerably over the last few decades. The elevated risk of cardiovascular and metabolic diseases in adulthood in individuals born SGA has been well documented, whereas data on gonadal development are limited. Prospective studies, case-control investigations and registry surveys show that impaired intrauterine growth increases the risks of congenital hypospadias, cryptorchidism and testicular cancer approximately two- to threefold. Although few studies focus on the effect of intrauterine growth on male pubertal development, testicular hormone production or sperm quality, available evidence points towards a subtle impairment of both Sertoli cell and Leydig cell function. Animal studies support the hypothesis that impaired perinatal growth restriction, depending on the timing, can affect postnatal testis size and function into adulthood. Current human data, however, are often based on highly selected hospital populations and lack precise distinctions between low birth weight, SGA, timing of growth restriction and a differentiation of catch-up growth patterns. Despite the methodological inadequacies of individual study results, the combined evidence from all data leaves little doubt that fetal growth restriction is associated with increased risk of male reproductive health problems, including hypospadias, cryptorchidism and testicular cancer.

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“…The risk of siblings also having hypospadias is about 4.2%. 27 In conclusion, the HES data were of high quality for the study period. Data on correctional procedures were used to assess prevalence trends.…”

Section: Discussionmentioning

confidence: 82%