Search results for " gonad"
showing 8 items of 58 documents
Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis
1995
The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. These observations prompted us to test whether WT1 mutations are involved in isolated gonadal dysgenesis, being the most severe form of disturbance in gonadal differentiation. We studied 27 cases of 46,XY females with gonadal dysgenesis who had previously been screened for and found not to carry SRY gene mutations. We performed mutational screening of the WT1 gene with denaturing gradient gel electrophoresis. In one of these patients, a heterozy…
Análisis molecular de la valoración del intervalo de tiempo óptimo entre la administración de acetato de triptorelina y la punción folicular en los t…
2023
Los fármacos análogos de la GnRH y la hCG han demostrado ser igualmente eficaces en la activación de la cascada de intermediarios de la maduración final ovocitaria que ocurre tras el estímulo ovulatorio. Sin embargo, su mecanismo de acción y por tanto los perfiles hormonales hallados tras el estímulo de los dos fármacos son muy diferentes. El tiempo más adecuado para programar la recolección ovocitaria tras la administración de acetato de triptorelina podría no ser 36 horas como ampliamente se ha pautado en los tratamientos de FIV con hCG. Este intervalo de tiempo es sumamente importante para obtener la mayor proporción posible de ovocitos MII porque procesos como el inicio de la luteinizac…
Association of female aging with decreased parthenogenetic activation, raised MPF, and MAPKs activities and reduced levels of glutathione S-transfera…
2004
This study aims to determine in the mouse whether oocytes from reproductively old females exhibit a different susceptibility to be parthenogenetically activated when compared to oocytes from young females. At the age of 10–12 (young-female group) or 60–62 (old-female group) weeks, hybrid female mice were superovulated using pregnant mare's serum gonadotropin (PMSG) followed by human chorionic gonadotropin (hCG) 48 hr later. After removing the cumulus cells, oocytes were exposed to any of two different activating protocols: (a) 6-min exposure to 8% ethanol; and (b) treatment with 200 μM thimerosal for 15 min followed by 8 mM dithiothreitol (DTT) for 30 min. Oocytes from old female mice displ…
Additive effect of factors related to assisted conception on the reduction of maternal serum pregnancy-associated plasma protein A concentrations and…
2013
Objective To analyze whether assisted conceptions need adjustments in first-trimester Down syndrome screening and why modifications in screening markers occur. Design Eleven-year cohort retrospective analysis. Setting Maternal-fetal medicine unit. Patient(s) Two thousand eleven naturally conceived normal singleton pregnancies and 2,042 normal singleton pregnancies achieved with assisted conception: 350 by IUI and 1,692 with IVF (n = 328) or intracytoplasmic sperm injection (ICSI; n=1,364), using nondonor (n = 1,086) or donated ova (n = 606), with fresh (n = 1,432) or frozen (n = 260) embryos. Intervention(s) Comparison of ultrasound and biochemical markers of first-trimester Down syndrome s…
Soluble ligands and their receptors in human embryo development and implantation.
2014
Extensive evidence suggests that soluble ligands and their receptors mediate human preimplantation embryo development and implantation. Progress in this complex area has been ongoing since the 1980s, with an ever-increasing list of candidates. This article specifically reviews evidence of soluble ligands and their receptors in the human preimplantation stage embryo and female reproductive tract. The focus will be on candidates produced by the human preimplantation embryo and those eliciting developmental responses in vitro, as well as endometrial factors related to implantation and receptivity. Pathways to clinical translation, including innovative diagnostics and other technologies, are al…
Controlled Ovarian Stimulation Induces a Functional Genomic Delay of the Endometrium with Potential Clinical Implications
2008
Context: Controlled ovarian stimulation induces morphological, biochemical, and functional genomic modifications of the human endometrium during the window of implantation. Objective: Our objective was to compare the gene expression profile of the human endometrium in natural vs. controlled ovarian stimulation cycles throughout the early-mid secretory transition using microarray technology. Method: Microarray data from 49 endometrial biopsies obtained from LH+1 to LH+9 (n = 25) in natural cycles and from human chorionic gonadotropin (hCG) +1 to hCG+9 in controlled ovarian stimulation cycles (n = 24) were analyzed using different methods, such as clustering, profiling of biological processes…
FGFR2mutation in 46,XY sex reversal with craniosynostosis
2015
Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutatio…
Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal.
2004
Point mutations and deletions of SRY gene have been described in several cases of XY gonadal dysgenesis. To date, most of these mutations affect the HMG domain of SRY which plays a central role in DNA binding activity of SRY. We report on a non-mosaic XY sex-reversed newborn girl (completely female external genitalia). The direct sequencing of SRY showed a new nonsense mutation in a codon of SRY gene flanking the 3' end of the HMG domain: a thymine is replaced by a guanine at position +387 in codon 129, resulting in the replacement of the amino acid tyrosine (TAT) by a stop codon (TAG). The new mutation of this patient provides further evidence to support the functional importance of the pu…