Second trimester amniotic fluid bisphenol A concentration is associated with decreased birth weight in term infants.

Bisphenol A (BPA) is an endocrine disrupting chemical with ubiquitous environmental exposure. Animal studies have demonstrated that in utero BPA exposure leads to increased adult body weight. Our aim was to characterize human fetal BPA exposure by measuring BPA concentration in second trimester amniotic fluid (AF) samples and to study its relationship with birth weight (BW) in full term infants.

Altered infant feeding patterns in boys with acquired nonsyndromic cryptorchidism.

Background: Genetic and environmental factors likely influence susceptibility to nonsyndromic cryptorchidism, a common disease presenting at birth or in later childhood. We compared cases and controls to define differential risk factors for congenital versus acquired cryptorchidism.

Methods: We compared questionnaire and clinical data from cases of congenital cryptorchidism (n = 230), acquired cryptorchidism (n = 182) and hernia/hydrocele (n = 104) with a group of healthy male controls (n = 358).

Analysis of five single nucleotide polymorphisms in the ESR1 gene in cryptorchidism.

Background: Recent findings suggest that a specific haplotype, including five single nucleotide polymorphisms (SNPs) in the 3'-terminal region of the estrogen receptor alpha gene (ESR1), is associated with the risk for cryptorchidism, but results have been conflicting in different populations. The goal of this study was to further define the association between this specific ESR1 haplotype and the risk for nonsyndromic cryptorchidism in a multiracial American population including Caucasian, African American, and Asian American subjects.

Methods: Applied Biosystems TaqMan SNP Genotyping Assays were used to identify the genotypes of the five SNPs in ESR1 in 152 nonsyndromic cryptorchidism cases and 160 healthy controls.

Insulin-like factor 3 levels in amniotic fluid of human male fetuses.

Background: Rodent studies suggest that the peptide hormone insulin-like factor 3 (Insl3) made by the fetal testis is responsible for the first transabdominal phase of testicular descent, and may be affected by xenobiotics to disrupt male reproductive tract development. To date, there is very little information on the production of INSL3 by the human fetus during gestation. The objective of the present study was to determine the concentrations and time course during pregnancy of INSL3 and testosterone production in human fetuses and their associations with maternal characteristics, pregnancy complications and outcome.

Allelic variants in HOX genes in cryptorchidism.

Background: Cryptorchidism is one of the most common congenital anomalies and is associated with increased risk for infertility and testicular cancer later in life. Findings from animal models and small clinical studies suggest that the posterior HOX genes (paralogs 9-13) could be potential candidate genes for cryptorchidism and that the HOX genes are functionally redundant within paralogous groups.

Methods: The coding regions and exon-intron boundaries of the 16 posterior HOX genes were sequenced and analyzed in group 1 (44 nonsyndromic cryptorchidism cases and 46 healthy controls).

Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.

Objective: To evaluate potential modifiers of the palatal phenotype in individuals with the 22q11.2 deletion syndrome.

Design: Data from 356 subjects enrolled in a study of the 22q11.

Reproductive hormone levels in infants with cryptorchidism during postnatal activation of the pituitary-testicular axis.

Purpose: Testosterone and luteinizing hormone secretion is reportedly impaired in infants born with cryptorchidism. To better characterize this phenomenon, we studied a range of hormones that normally increase in boys during the first few months of life.

Materials And Methods: A case-control study was conducted of boys with nonsyndromic cryptorchidism identified at birth (cases) and boys with descended testes presenting to the urology clinic without endocrine related concerns (controls).

Molecular epidemiology of hypospadias: review of genetic and environmental risk factors.

Hypospadias is one of the most common congenital anomalies in the United States, occurring in approximately 1 in 125 live male births. It is characterized by altered development of the urethra, foreskin, and ventral surface of the penis. In this review, the embryology, epidemiology, risk factors, genetic predisposition, and likely candidate genes for hypospadias are described.