We reconstructed of the aortic arches of two unrelated boys, who were the smaller twin in monochorionic pregnancies, because they had coarctation of the aorta (CoA). They both had hypospadias. The co-twins, the larger twins, had neither CoA nor hypospadias. Although CoA and hypospadias both have been associated separately with monozygotic pregnancy, this is the first report of CoA and hypospadias occurring together. These cases indicate that epigenetic factors such as unbalanced fetal circulation in monochorionic pregnancy may be involved in co-occurrence of CoA and hypospadias.
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http://dx.doi.org/10.1055/s-2004-823771 | DOI Listing |
Neuromuscul Disord
September 2018
Division of Pediatric Metabolic Diseases, Department of Pediatrics, Hacettepe University, Turkey.
Inherited defects of vitamin B (riboflavin) metabolism may cause different phenotypes with common biochemical markers of multiple acyl-CoA dehydrogenase deficiency (MADD). Most recently, mutations in FLAD1, which encodes flavin adenine dinucleotide (FAD) synthase, has been implicated in MADD with combined respiratory chain deficiency in nine patients. Here, we describe two siblings with FAD synthase deficiency, who were diagnosed post-mortem upon suspicion of this newly-described disease.
View Article and Find Full Text PDFReproduction
May 2008
Department of Molecular Biology, Umeå University, S-901 87 Umeå, Sweden.
Phthalates are widely used as plasticizers in a number of daily-life products. In this study, we investigated the influence of mono-(2-ethylhexyl) phthalate (MEHP), the active metabolite of the frequently used plasticizer di-(2-ethylhexyl) phthalate (DEHP), on gonadal steroidogenesis in vitro. MEHP (25-100 microM) stimulated basal steroid synthesis in a concentration-dependent manner in immortalized mouse Leydig tumor cells (MLTC-1).
View Article and Find Full Text PDFAm J Perinatol
April 2004
Department of Pediatrics, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
We reconstructed of the aortic arches of two unrelated boys, who were the smaller twin in monochorionic pregnancies, because they had coarctation of the aorta (CoA). They both had hypospadias. The co-twins, the larger twins, had neither CoA nor hypospadias.
View Article and Find Full Text PDFPediatr Dev Pathol
August 2002
Department of Pathology and Laboratory Medicine, University of Wisconsin, 600 Highland Avenue, Madison, WI 53792, USA.
A case of neonatal-onset glutaric acidemia type II with electron-transfer flavoprotein (ETF) deficiency is presented. The morphological pattern of disease in the male infant included hypospadias, cryptorchidism, bilateral 13 ribs, nuclear cataract, cystic dysplasia of kidneys, lipid accumulation in the liver and renal tubular epithelium, and immature brain with white matter gliosis. The morphologic examination of the placenta revealed features of delayed maturation, including large-for-gestational-age size and abundant immature intermediate villi with cellular syncytiotrophoblast, persistent villous cytotrophoblast, and decreased syncytial knots.
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