Department of Endocrinology and Reproductive Medicine, AP-HP Pitié Salpêtrière Hospital, Sorbonne Université Médecine, Paris, France. philippe.touraine@aphp.fr.
Inserm U1151 INEM, Necker Hospital, Paris, France. philippe.touraine@aphp.fr.
Publications dans "Insuffisance ovarienne primitive" :
Department of Obstetrics and Gynecology, University of Utah School of Medicine, 50 North Medical Drive, Salt Lake City, UT, USA. Electronic address: Lauren.Verrilli@hsc.utah.edu.
Publications dans "Insuffisance ovarienne primitive" :
Department of Pathology, University of Pittsburgh, Magee-Womens Research Institute, Pittsburgh, PA, USA; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Magee-Womens Research Institute, Pittsburgh, PA, USA.
Publications dans "Insuffisance ovarienne primitive" :
GOSgene, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
Publications dans "Insuffisance ovarienne primitive" :
Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Publications dans "Insuffisance ovarienne primitive" :
Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom; South Australian Health and Medical Research Institute (SAHMRI), The University of Adelaide, Adelaide, South Australia, Australia; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom. Electronic address: m.dattani@ucl.ac.uk.
Publications dans "Insuffisance ovarienne primitive" :
MOE Key Laboratory of Environmental Remediation and Ecosystem Health, College of Environmental and Resource Sciences, Zhejiang University, Hangzhou, 310058, China.
Publications dans "Insuffisance ovarienne primitive" :
MOE Key Laboratory of Environmental Remediation and Ecosystem Health, College of Environmental and Resource Sciences, Zhejiang University, Hangzhou, 310058, China.
College of Medical Technology, Zhejiang Chinese Medical University, Hangzhou, 310053, China.
Publications dans "Insuffisance ovarienne primitive" :
MOE Key Laboratory of Environmental Remediation and Ecosystem Health, College of Environmental and Resource Sciences, Zhejiang University, Hangzhou, 310058, China. jliue@zju.edu.cn.
Publications dans "Insuffisance ovarienne primitive" :
This review focuses on primary amenorrhea and primary/premature ovarian insufficiency due to hypergonadotropic hypogonadism. Following a thoughtful, thorough evaluation, a diagnosis can usually be dis...
Primary ovarian insufficiency (POI) is a heterogeneous disease resulting from non-functional ovaries in women before the age of 40. It is characterized by primary amenorrhea or secondary amenorrhea. A...
Primary ovarian insufficiency (POI) is a disorder of insufficient ovarian follicle function before the age of 40 years with an estimated prevalence of 3.7% worldwide. Its relevance is emerging due to ...
Our study aimed to identify the genetic causes of non-syndromic primary ovarian insufficiency (POI) in female patients....
We performed whole exome sequencing in females suffering from isolated POI and in their available family members. Copy number variations were validated by long-range PCR and Sanger sequencing, and con...
We detected two pathogenic TP63 heterozygous deleterious single nucleotide variants and a novel TP63 intragenic copy number alteration in three unrelated women with isolated POI. Two of these genetic ...
Our results broaden the spectrum of TP63-related disorders, which now includes sporadic and familial, isolated, and syndromic POI. Genomic variants that impair the transactivation inhibitory domain of...
Premature ovarian insufficiency (POI) is a cause of infertility and endocrine dysfunction in women, defined by loss of normal, predictable ovarian activity before the age of 40 years. POI is clinicall...
Primary ovarian insufficiency (POI) is a disorder characterized by the premature decline in ovarian function, leading to significant fertility and health impacts on women under 40. The unclear etiolog...
This study employed genome-wide association analysis (GWAS) integrated with expression quantitative trait loci (eQTL) data from the GTEx and eQTLGen databases. Mendelian randomization (MR) and colocal...
We identified 431 genes with available index cis-eQTL signals, of which four (HM13, FANCE, RAB2A, and MLLT10) were significantly associated with POI. Colocalization analysis revealed strong evidence f...
Our study establishes a causal link between specific genes and POI, highlighting FANCE and RAB2A as potential drug targets. These findings provide a foundation for future research and therapeutic deve...
The decline in fertility in aging women, especially those with poor ovarian response (POR) or primary ovarian insufficiency (POI), is a major concern for modern IVF centers. Fertility treatments have ...
Bone health in primary ovarian insufficiency (POI) is under-investigated. We assessed patients with spontaneous POI for vertebral fractures (VFs) and related parameters of bone health....
70 cases with spontaneous POI (age 32.5 ± 7.0 years) and an equal number of controls were assessed for BMD, TBS, and VFs. BMD at the lumbar-spine (L1-L4), left hip, non-dominant forearm, and TBS (iNsi...
BMD at the lumbar-spine, hip and forearm was reduced by 11.5%, 11.4% and 9.1% in POI as compared to controls (P < 0.001). Degraded or partially degraded microarchitecture on TBS was observed in 66.7% ...
Thus, lumbar-spine osteoporosis, impaired TBS and VFs were present in 35.7%, 66.7% and 15.7% of patients with spontaneous POI in their early third decade. This indicates need for rigorous investigatio...
This study aims to retrospectively estimate cumulative reproductive outcomes in women with primary ovarian insufficiency (POI) in assisted reproductive technology (ART) therapy....
A total of 139 patients diagnosed with POI were reviewed in this study. Firstly, they were divided into two groups according to oocyte origin: using their own oocytes (OG group) or accepting oocyte do...
There were 88 patients who used their own oocytes, while 51 patients accepted oocyte donations. In the OG group, there are only 10 (7.2%) patients who got pregnant, and patients in the OD group had wo...
Ovarian stimulation in POI women requires more cost and time. For those with a stronger desire to have genetic offspring, luteal-phase short-acting long protocol may help them obtain pregnancy rapidly...
Premature ovarian insufficiency (POI) is a primary cause of infertility with variable clinical manifestations. POI is a multifactorial disease with both environmental and known genetic etiologies, but...
The PubMed, Science Direct, ProQuest, and Embase databases were searched from inception to December 2022 for all reports of genetic variants associated with POI in the MENA region. Clinical and geneti...
Of 1,803 studies, 25 met the inclusion criteria. Fifteen studies were case-control studies and ten were case reports representing 1,080 non-syndromic POI patients in total. Seventy-nine variants in 25...
To our best knowledge, this is the first systematic review of the genetic variants associated with POI in the MENA region. Further functional studies are needed to assess the disease-causing molecular...
