A team of researchers has documented a variety of urogenital malformations in male babies born to women living in an area of South Africa where the potentially endocrine-disrupting pesticide DDT is still used. The team, reporting in a study pub lished online 23 October 2009 in BJU International, believes the malformations may be connected to the mothers’ DDT exposure. A global halt to DDT’s use...

Cryptorchidism and hypospadias have been related to prenatal estrogen exposure in animal models. Some chemicals used in farming and gardening have been shown to possess estrogenic and other hormone-disrupting effects. Earlier studies have indicated increased risks of urogenital malformations in the sons of pesticide appliers. In the present study, parental occupation in the farming and gardenin...

Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dila...

2,4-dichlorophenoxyacetic acid (2,4-D), a plant growth regulator, has been used worldwide as a herbicide. Previously we evaluated the prenatal developmental effects of 2,4-D by feeding it to pregnant rats and found that it is maternally toxic and embryolethal, and it induces urogenital malformations in rat fetuses. In the study presented here, we investigated the effects of pure 2,4-D on rat em...

The evidence of risk for birth defects due to artificial reproductive technology (ART) cycles is not yet clear. However, there may be a possible link between ART cycles and epigenetic abnormalities. Abdominal cysts are rarely seen pathologies after intracytoplasmic sperm injection (ICSI) cycles. A giant mesenteric cyst was diagnosed in one of the ICSI twins by ultrasonograhic examination at 14t...

INTRODUCTION The condition of Congenital Pouch Colon (CPC) has been associated with ano-rectal agenesis, particularly seen in Asia and is defined as an anomaly in which whole or part of the colon is replaced by a pouch like dilatation, which mostly communicates distally with the urogenital tract by a fistula[1]. Recently the Krickenbeck classification for anorectal malformations (ARM) has class...

Müllerian duct abnormalities consist of a set of structural malformations that include diverse situations of agenesis or aplasia, which may evolve according to three distinct patterns: a failure of the paramesonephric ducts (Müllerian ducts) to develop in the whole or in part (uterus unicornis and segmental aplasia of uterine horn, respectively), the failure of caudal part of the paramesonephri...

Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allow...

Mullerian duct abnormalities are congenital malformations that are easily missed and can lead to incorrect diagnosis and unnecessary operative procedures. In this case, a young female presented with cyclic pelvic pain that continued after previous surgical resection of an ovarian cyst. Further investigation with clinical examinations and multimodality imaging demonstrated ipsilateral renal agen...

BACKGROUND G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenia, early onset infections and additional organ involvement, especially cardiac and urogenital malformations. CASE PRESENTATION In this report, we present the clinical details of a recently known case of severe congenital neutropenia (SCN) with G6PC3 mutation, who experienced the fi...