Publications by authors named "S Jaillard"
Article Synopsis
- The article discusses a rare genetic abnormality involving deletions on chromosome 11, specifically between the 11q13 and 11q23 regions, which can lead to various clinical features including intellectual disabilities and malformations, though these do not consistently correlate with specific genetic patterns.* -
- The case study focuses on a 9-year-old boy exhibiting Sprengel's deformity, iris and chorioretinal coloboma, and mild motor development delay, identified to have a significant interstitial deletion on chromosome 11 through advanced genetic testing methods.* -
- The findings emphasize the variability in symptoms associated with 11q deletions and suggest that the observed deformities might not have a direct genetic link but rather could be
Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.
View Article and Find Full Text PDFFollicle stimulating hormone (FSH) is a key pituitary gonadotropic hormone implicated in human fertility and is crucial for folliculogenesis and recruitment of new antral follicles. Variations in its receptor, FSHR, can lead to diverse reproductive phenotypes including ovarian hyperstimulation syndrome (OHSS) and premature ovarian insufficiency (POI). This study reports a novel case of FSHR-related ovarian insufficiency in a patient with primary amenorrhea, subnormal AMH levels, and delayed puberty.
View Article and Find Full Text PDFPremature ovarian insufficiency (POI) is characterised by the loss or complete absence of ovarian activity in women under the age of 40. Clinical presentation of POI varies with phenotypic severity ranging from premature loss of menses to complete gonadal dysgenesis. POI is genetically heterogeneous with >100 causative gene variants identified thus far.
View Article and Find Full Text PDFArticle 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.