A5046070929- Reproductive Biology and Fertility
- Assisted Reproductive Technology and Twin Pregnancy
- Ovarian function and disorders
- Reproductive Health and Technologies
- Prenatal Screening and Diagnostics
- Uterine Myomas and Treatments
- Hypothalamic control of reproductive hormones
- Ectopic Pregnancy Diagnosis and Management
- Gynecological conditions and treatments
- Intestinal and Peritoneal Adhesions
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Fibroblast Growth Factor Research
- Gestational Trophoblastic Disease Studies
- Fetal and Pediatric Neurological Disorders
- Testicular diseases and treatments
- Genomics and Chromatin Dynamics
- Endometriosis Research and Treatment
- Maternal and Perinatal Health Interventions
- Reproductive Health and Contraception
- Reproductive System and Pregnancy
- Sperm and Testicular Function
- Proteoglycans and glycosaminoglycans research
- Maternal and fetal healthcare
- Hair Growth and Disorders
- Childhood Cancer Survivors' Quality of Life
Brigham and Women's Hospital
2017-2023
Harvard University
2022-2023
Yale University
2014-2019
Massachusetts General Hospital
2011-2013
The complexity of genetic testing in Kallmann syndrome (KS) is growing and costly. Thus, it important to leverage the clinical evaluations KS patients prioritize screening.The objective study was determine which reproductive nonreproductive phenotypes subjects have implications for specific gene mutations.Two hundred nineteen were studied: 151 with identified rare sequence variants (RSVs) 8 genes known cause (KAL1, NELF, CHD7, HS6ST1, FGF8/FGFR1, or PROK2/PROKR2) 68 who remain RSV negative...
Neuronal development is the result of a multitude neural migrations, which require extensive cell-cell communication. These processes are modulated by extracellular matrix components, such as heparan sulfate (HS) polysaccharides. HS molecularly complex nonrandom modifications sugar moieties, including sulfations in specific positions. We report here mutations 6-O-sulfotransferase 1 ( HS6ST1 ) families with idiopathic hypogonadotropic hypogonadism (IHH). IHH manifests incomplete or absent...
12013 Background: Immunotherapy with immune checkpoint inhibition (ICI) is being widely adopted in the treatment of patients a wide range malignancies. However, we have no data on how these therapies influence fertility or ability to undergo treatments after therapy. Within melanoma community numerous women childbearing age been treated ICI including ipilimumab, nivolumab and pembrolizumab. Anti-mullerian hormone (AMH) biomarker ovarian reserve predictor response treatments, vitro...
Pathogenic SRY-box transcription factor 2 (SOX2) variants typically cause severe ocular defects within a SOX2 disorder spectrum that includes hypogonadotropic hypogonadism. We examined exome-sequencing data from large, well-phenotyped cohort of patients with idiopathic hypogonadism (IHH) for pathogenic to investigate the underlying and its associated phenotypes. identified 8 IHH individuals harboring heterozygous variable These variant proteins were tested in vitro determine whether causal...
Polycystic ovary syndrome (PCOS) is a commonly encountered endocrine disorder that characterized by combination of hyperandrogenism, menstrual disturbances (predominantly oligomenorrhea), and classic sonographic polycystic ovarian morphology. Additional sequelae associated with PCOS include infertility enhanced risk developing type 2 diabetes mellitus cardiovascular disease. The prevalence depressive disorders obstructive sleep apnea disproportionately higher in women PCOS, this population...
To determine the incidence and risk factors for intrauterine adhesions (IUAs) after minimally invasive open myomectomy hysteroscopic (HM).
Abstract Background Treatment exposures for childhood cancer reduce ovarian reserve. However, the success of assisted reproductive technology (ART) among female survivors is not well established. Methods Five‐year in Childhood Cancer Survivor Study were linked to Society Assisted Reproductive Technology Clinic Outcome Reporting System, which captures national ART outcomes. The authors assessed live birth rate, relative risk (RR) with 95% confidence intervals (95% CIs), and associations...
10528 Background: Some treatment exposures for childhood cancer reduce ovarian reserve. Registry-based evaluation has not been conducted assisted reproductive technology (ART) outcomes of female survivors. Methods: The Childhood Cancer Survivor Study, a retrospective cohort five-year survivors and siblings, was linked to the Society Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS), which captures nationwide, CDC-required reporting ART outcomes. We assessed live...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)