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Ambiguous Genitalia (ambiguous + genitalia)
Selected AbstractsParents' narratives about their experiences of their child's reconstructive genital surgeries for ambiguous genitaliaJOURNAL OF CLINICAL NURSING, Issue 23 2008Caroline Sanders Aim., The aim of this study was to initiate an exploration of parents' understanding and experiences of their child's reconstructive genital surgeries for ambiguous genitalia. Background., The determination of gender for a child born with ambiguous genitalia is a complex medical and social process influenced by biological, psychological, social and cultural factors. Two main approaches exist; one promotes interventions (optimal gender policy) while the other suggests delaying interventions (informed consent policy) until the child can contribute to the decision. Methods., An exploratory narrative inquiry design was chosen. Data were collected through narrative interviews with a purposive non-random sample of 10 parents of eight children (aged 0,11 years) who had ambiguous genitalia. Results., Parents' stories reflected strong protective instincts towards their children along with feelings of shock and disbelief. Parents' social construction of gender influenced their attitudes and beliefs about their child's ambiguous genitalia and the need for surgery. Parents' desired to be ,good parents' and do what they perceived as ,right' for their child. They considered genital surgery as a necessity primarily relying on medical advice to guide them at times of uncertainty and confusion. Parents rarely shared stories about their child's surgeries/genitalia outside of the couple relationship and these stories were often referred to as ,secrets'. Conclusion., Having a child with ambiguous genitalia was perceived as problematic and brought about changes in roles, responsibilities, goals and social status as a parent beyond those usually associated with parenthood. Relevance to clinical practice., These early findings help increase awareness of parents' experiences and of the problems and emotional challenges that parents face when their child is born with genital ambiguity. [source] Feminism and Women's Autonomy: the Challenge of Female Genital CuttingMETAPHILOSOPHY, Issue 5 2000Diana Tietjens Meyers Feminist studies of female genital cutting (FGC) provide ample evidence that many women exercise effective agency with respect to this practice, both as accommodators and as resisters. The influence of culture on autonomy is ambiguous: women who resist cultural mandates for FGC do not necessarily enjoy greater autonomy than do those women who accommodate the practice, yet it is clear that some social contexts are more conducive to autonomy than others. In this paper, I explore the implications for autonomy theory of these understandings of the relation between culture, FGC, and women's agency. I review the range of worldwide FGC practices , including "corrective" surgery for "ambiguous genitalia" in Western cultures as well as the various initiation rites observed in some African and Asian cultures , and the diverse cultural rationales for different forms of FGC. I argue that neither latitudinarian, value-neutral accounts of autonomy nor restrictive, value-saturated accounts adequately explain women's agentic position with respect to FGC. I then analyze a number of educational programs that have enhanced women's autonomy, especially by strengthening their introspection, empathy, and imagination. Such programs, which engage women's autonomy skills without exposing them to autonomy-disabling cultural alienation, promote autonomy-within-culture. This understanding of autonomy as socially situated, however, entails neither endorsement of FGC nor resignation to its persistence. [source] Cyclopia (synophthalmia) in Smith,Lemli,Opitz syndrome: First reported case and consideration of mechanism,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2010David D. Weaver Abstract Here we present a 24-week fetus with Smith,Lemli,Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia). Following birth, we suspected SLOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2,3 toe syndactyly. The diagnosis of SLOS was confirmed by finding an elevated amniotic fluid 7-dehydrocholesterol level (9,890,ng/ml; normal range,=,3,9,ng/ml), and molecularly by detecting two different mutations in the DHCR7 gene, the gene causing SLOS. The first mutation was an IVS8-1G>T change and the second was a deletion of exons 3 and 4; this latter mutation has not been reported previously. The mother carries the deletion, while the father carries the splice-site mutation. Also of note, the father has an abnormally low total plasma cholesterol level (104,109,mg/dl). This is the most severe case of HPE described in any patient with SLOS. We postulate that the HPE in this case resulted from severe impairment of Sonic Hedgehog signaling secondary to abnormal cholesterol metabolism; however, the unique combination of mutations in the fetus functionally appears to be no different from other homozygous null mutations reported in DHCR7. Therefore, there must be other yet to be identified factors that contributed to the severity of HPE in SLOS. © 2010 Wiley-Liss, Inc. [source] Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3,qter) and partial trisomy 18q (18q23,qter) in a fetus associated with cystic hygroma and ambiguous genitaliaPRENATAL DIAGNOSIS, Issue 6 2005Chih-Ping Chen Abstract Objectives To present the prenatal diagnosis and molecular cytogenetic analysis of a fetus with nuchal cystic hygroma and ambiguous genitalia. Case and Methods Amniocentesis was performed at 16 weeks' gestation because of the abnormal fetal sonographic finding of a large septated nuchal cystic hygroma. Genetic amniocentesis revealed a terminal deletion in the long arm of chromosome 10. The paternal karyotype was subsequently found to be 46,XY,t(10;18)(q25.3;q23). The maternal karyotype was normal. The pregnancy was terminated. A hydropic fetus was delivered with a septated nuchal cystic hygroma and ambiguous genitalia. Fluorescence in situ hybridization (FISH), microarray-based comparative genomic hybridization (CGH), and polymorphic DNA markers were used to investigate the involved chromosomal segments. Results FISH study showed absence of the 10q telomeric probe and presence of the 18q telomeric probe in the derivative chromosome 10. Microarray-based CGH analysis showed loss of distal 10q and gain of distal 18q. Polymorphic DNA marker analysis determined the breakpoints. The fetal karyotype was 46,XY,der(10)t(10;18)(q25.3;q23)pat. The chromosome aberration resulted in partial monosomy 10q (10q25.3,qter) and partial trisomy 18q (18q23,qter). Conclusions The present case provides evidence that partial monosomy 10q (10q25.3,qter) with partial trisomy 18q (18q23,qter) can be a genetic cause of fetal cystic hygroma and ambiguous genitalia. Cytogenetic analysis for prenatally detected structural abnormalities may detect unexpected inherited chromosome aberrations. Copyright © 2005 John Wiley & Sons, Ltd. [source] 13q33.2 deletion: a rare cause of ambiguous genitalia in a male newborn with growth restrictionACTA PAEDIATRICA, Issue 5 2010JH Andresen Abstract 13q deletion is a rare cause of ambiguous genitalia in the male newborn, and can be associated with mental retardation of varying degree, retinoblastoma, and malformations of the brain, eye, genitourinary and gastrointestinal tract, depending on the level of the deletion. We present a male neonate with ambiguous genitalia and IUGR with a 13q33.2 deletion, and a paternal balanced translocation. Microarray analysis found the genes involved to be on chromosome 13 in the region 102989254bp,109214509bp. This deletion encompasses the EFNB2 gene, which has been implicated in genital malformations in 13q deletion cases. Conclusions:, We find a link between haploinsufficiency of the EFNB2 gene and the presence of ambiguous genitalia and hypospadia in patients with a 13q.33 deletion. This work emphasizes the importance of early diagnosis of this condition due to the link with mental retardation and the need for follow up and management. [source] The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissuesCLINICAL ENDOCRINOLOGY, Issue 5 2007Carolina M. Pepe Summary Objective, The previously described c655G>A mutation of the human cytochrome P450 aromatase gene (P450aro, CYP19) results in aberrant splicing due to disruption of a donor splice site. To explain the phenotype of partial aromatase deficiency observed in a female patient described with this mutation, molecular consequences of the c655G>A mutation were investigated. Design To investigate whether the c655G>A mutation causes an aberrant spliced mRNA lacking exon 5 (,Ex5), P450aro RNA was analysed from the patient's lymphocytes by reverse transcription polymerase chain reaction (RT-PCR) and by splicing assays performed in Y1 cells transfected with a P450aro ,Ex5 expression vector. Aromatase activity of the c655G>A mutant was predicted by three dimensional (3D) protein modelling studies and analysed in transiently transfected Y1 cells. Exon 5 might be predicted as a poorly defined exon suggesting a susceptibility to both splicing mutations and physiological alternative splicing events. Therefore, expression of the ,Ex5 mRNA was also assessed as a possibly naturally occurring alternative splicing transcript in normal human steroidogenic tissues. Patients An aromatase deficient girl was born with ambiguous genitalia. Elevated serum LH, FSH and androgens, as well as cystic ovaries, were found during prepuberty. At the age of 8·4 years, spontaneous breast development and a 194·6 pmol/l serum oestradiol level was observed. Results The ,Ex5 mRNA was found in lymphocytes of the P450aro deficient girl and her father, who was a carrier of the mutation. Mutant minigene expression resulted in complete exon 5 skipping. As expected from 3D protein modelling, ,Ex5 cDNA expression in Y1 cells resulted in loss of P450aro activity. In addition, the ,Ex5 mRNA was present in placenta, prepubertal testis and adrenal tissues. Conclusions Alternative splicing of exon 5 of the CYP19 gene occurs in the wild type (WT) as well as in the c655G>A mutant. We speculate that for the WT it might function as a regulatory mechanism for aromatization, whereas for the mutant a relative prevalence of the shorter over the full-length protein might explain the phenotype of partial aromatase deficiency. [source] Phenotypic variability in isodicentric Y patients: study of nine casesCLINICAL GENETICS, Issue 2 2006M DesGroseilliers Isodicentric chromosomes are the most commonly reported aberrations of the human Y chromosome. As they are unstable during cell division and can generate various types of cell lines, most reported patients are chromosomal mosaics, generally including a 45,X cell line. Phenotypes depend on the location of the breakpoints as well as on the proportion of each cell line and vary from male to abnormal female or individual with ambiguous genitalia. Although phenotypic variability is known to also depend on the degree of mosaicism in the various tissues, gonads are rarely studied. We report nine cases of isodicentric Y chromosomes studied by conventional and molecular cytogenetic: three males, five females, and one individual with sexual ambiguity. Two males had a non-mosaic karyotype, while the third male was a mosaic with a predominant 46,XY cell line. Three of the females had a major 45,X cell line, while the last two females and the patient with ambiguous genitalia had a major 46,X,idic(Y) cell line. Analyses of gonadal tissues from the individual with sexual ambiguity and of three of the five female patients gave results concordant with their phenotype, allowing us to better understand the sexual differentiation of these patients. [source] | |||||||||||||