Publications by authors named "M A Belaud-Rotureau"
Article Synopsis
- FSH (follicle stimulating hormone) is crucial for fertility, ovarian function, and can cause reproductive disorders like OHSS and POI when variations occur in its receptor (FSHR).
- A case study identified a patient with primary amenorrhea and delayed puberty who carried two deletions in the FSHR gene, leading to complete loss of function of both alleles.
- The research highlights the complexity of genetic factors in reproductive health and suggests incorporating CNV (copy number variation) detection in diagnosing POI for improved patient care.
Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.
Acta Obstet Gynecol Scand
October 2024
Article Synopsis
- MRKH syndrome is a serious condition that affects women's reproductive systems and can have other health issues, like kidney problems or heart defects.
- Most women with MRKH have not been thoroughly checked for other related health problems, which is important for their treatment options.
- Some women with MRKH may be able to get a uterine transplant, but many do not meet the criteria to be eligible for this procedure.
Differences of sex development (DSDs) are a group of congenital conditions characterized by a discrepancy between chromosomal, gonadal, and genital sex development of an individual, with significant impact on medical, psychological and reproductive life. The genetic heterogeneity of DSDs complicates the diagnosis and almost half of the patients remains undiagnosed. In this context, chromosomal imbalances in syndromic DSD patients may help to identify new genes implicated in DSDs.
View Article and Find Full Text PDFSexual development is a complex process relying on numerous genes. Disruptions in some of these genes are known to cause differences of sexual development (DSDs). Advances in genome sequencing allowed the discovery of new genes implicated in sexual development, such as PBX1.
View Article and Find Full Text PDFGanglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) in gene. These variants result in reduced β-galactosidase (β-gal) activity, leading to neurodegeneration associated with premature death. Currently, no effective therapy for GM1 gangliosidosis is available.
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