Article
Endocrinology & Metabolism
Bushra Gorsi, Edgar Hernandez, Marvin Barry Moore, Mika Moriwaki, Clement Y. Chow, Emily Coelho, Elaine Taylor, Claire Lu, Amanda Walker, Philippe Touraine, Lawrence M. Nelson, Amber R. Cooper, Elaine R. Mardis, Aleksander Rajkovic, Mark Yandell, Corrine K. Welt
Summary: The study identified candidate causative variants in women with POI through whole exome sequencing (WES) and found gene sets with increased burden of deleterious variants. Seven new risk genes for POI were discovered with functional evidence, expanding the genetic architecture of heterozygous rare gene variants causing risk for POI.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Obstetrics & Gynecology
Lauren Verrilli, Erica Johnstone, Corrine Welt, Kristina Allen-Brady
Summary: The study investigates the familial clustering of primary ovarian insufficiency (POI) at the population level by examining multi-generational genealogical information linked to electronic medical records. The results demonstrate an increased risk of POI among the extended relatives of cases, supporting a genetic contribution to POI.
FERTILITY AND STERILITY
(2023)
Article
Endocrinology & Metabolism
Erica Boiman Johnstone, Bushra Gorsi, Emily Coelho, Barry Moore, Ashley M. Farr, Amber R. Cooper, Elaine R. Mardis, Aleksander Rajkovic, Clement Y. Chow, Mark Yandell, Corrine K. Welt
Summary: This study identified compound heterozygous variants in DIS3 gene in two sisters with primary amenorrhea, suggesting that mutations in DIS3 cause POI. Functional studies in a Drosophila melanogaster model confirmed the role of DIS3 in oocyte production and infertility.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Biochemistry & Molecular Biology
Zixue Zhou, Xi Yang, Yuncheng Pan, Lingyue Shang, Siyuan Chen, Jialin Yang, Li Jin, Feng Zhang, Yanhua Wu
Summary: This study investigated the transcriptomic landscape of postnatal mouse ovaries over the reproductive lifespan and revealed the importance of the DNA repair pathway in ovarian aging, as well as identified differentially expressed genes related to ovarian function. The findings provide insights into the molecular mechanisms underlying mammalian ovarian aging and support future etiological studies of aging-associated ovarian disorders.
HUMAN MOLECULAR GENETICS
(2021)
Article
Medicine, General & Internal
Cynthia A. Stuenkel, Anne Gompel
Summary: A 23-year-old woman with a 6-month history of amenorrhea, mood swings, irritability, and disrupted sleep presents for evaluation. She questions if these symptoms are due to stress related to a new job. Physical examination is normal and hormone test results indicate postmenopausal range levels of follicle-stimulating hormone (FSH). Further evaluation and treatment are needed for this patient.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Endocrinology & Metabolism
Sinead M. McGlacken-Byrne, Polona Le Quesne Stabej, Ignacio Del Valle, Louise Ocaka, Andrey Gagunashvili, Berta Crespo, Nadjeda Moreno, Chela James, Chiara Bacchelli, Mehul T. Dattani, Hywel J. Williams, Dan Kelberman, John C. Achermann, Gerard S. Conway
Summary: In this study, a genetic mechanism underlying early-onset POI in two sisters was identified. The disruption of the ZSWIM7 gene was found to be associated with POI in humans and may play an important role in human homologous recombination. This study expands the range of genes associated with POI in women.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Jiahui Wang, Rong Luo, Xia Zhao, Di Xia, Yi Liu, Tao Shen, Yuanjiao Liang
Summary: Recent studies have suggested a potential correlation between gut microbiota (GM) and primary ovarian insufficiency (POI), but the causal relationship is still unclear. This two-sample Mendelian randomization (MR) study found a causal link between Eubacterium (hallii group), Eubacterium (ventriosum group), Intestinibacter, Terrisporobacter, and POI. Further clinical trials are needed to understand the effects and mechanisms of action of GM on POI.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Elinor Chelsom Vogt, Francisco Gomez Real, Eystein Sverre Husebye, Sigridur Bjornsdottir, Bryndis Benediktsdottir, Randi Jacobsen Bertelsen, Pascal Demoly, Karl Anders Franklin, Leire Sainz de Aja Gallastegui, Francisco Javier Callejas Gonzalez, Joachim Heinrich, Mathias Holm, Nils Oscar Jogi, Benedicte Leynaert, Eva Lindberg, Andrei Malinovschi, Jesus Martinez-Moratalla, Raul Godoy Mayoral, Anna Oudin, Antonio Pereira-Vega, Chantal Raherison Semjen, Vivi Schlunssen, Kai Triebner, Marianne Oksnes
Summary: This study investigated markers of premature menopause and the prevalence of autoimmune primary ovarian insufficiency (POI) in European women. The results showed that premature menopause was associated with nulliparity, obesity, osteoporosis, hormone replacement therapy, and never smokers. It was found that 1.1% of women had idiopathic POI and 4.5% of POI cases were likely of autoimmune origin based on positive steroidogenic autoantibodies.
ENDOCRINE CONNECTIONS
(2022)
Review
Cell Biology
Seung Joo Chon, Zobia Umair, Mee-Sup Yoon
Summary: Premature ovarian insufficiency (POI) is a condition characterized by the loss of normal ovarian function before the age of 40, affecting a small percentage of women under 40. The condition is biochemically defined by amenorrhea, low estrogen levels, and high gonadotropin levels, potentially leading to infertility. POI has a heterogeneous etiology, including both genetic and non-genetic factors, and current research focuses on genetic basis, non-coding RNA, and animal models to uncover pathogenesis and potential treatment targets. Despite recent advances, understanding gene regulatory networks and exploring therapies remain critical for future research.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Obstetrics & Gynecology
H. Silven, S. M. Savukoski, P. Pesonen, E. Pukkala, M. Ojaniemi, M. Gissler, E. Suvanto, M. Niinimaki
Summary: A wide range of genetic disorder and congenital malformation diagnoses are associated with POI, especially early onset POI. Previous studies have found a genetic cause for 7-15% of POI cases.
HUMAN REPRODUCTION
(2023)
Article
Obstetrics & Gynecology
H. Silven, S. M. Savukoski, P. Pesonen, E. Pukkala, M. Gissler, E. Suvanto, M. Niinimaki
Summary: The incidence of premature ovarian insufficiency (POI) has increased in females aged 15-19 years since 2007 but has decreased in older age groups. Relatives of women with POI have a significantly increased risk of developing POI. POI women tend to have slightly lower socioeconomic status and level of education compared to controls.
HUMAN REPRODUCTION
(2022)
Article
Endocrinology & Metabolism
Elinor C. Vogt, Lars Breivik, Ellen C. Royrvik, Marianne Grytaas, Eystein S. Husebye, Marianne Oksnes
Summary: This study found that 10.2% of women with autoimmune Addison's disease (AAD) have Primary Ovarian Insufficiency (POI), with approximately one-third developing POI before the age of 30. Autoantibodies against side-chain cleavage enzyme (SCC) had a 96% negative predictive value for POI. Additionally, the use of hormone replacement therapy (HRT) was higher in women with AAD compared to the general population.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Review
Obstetrics & Gynecology
Isabella McDonald, Corrine Welt, Andrew A. Dwyer
Summary: Women with idiopathic primary ovarian insufficiency (POI) have unmet psychosocial needs related to health-related quality of life (HR-QoL), including the themes of 'diagnostic odyssey', 'isolation and stigma', and impaired 'ego integrity'. The findings of this study are important for informing tailored interventions to support active coping and improve HR-QoL in women with POI.
HUMAN REPRODUCTION
(2022)
Article
Obstetrics & Gynecology
Alison K. Shea, Alice Buwembo, Alexandra Mayhew, Nazmul Sohel, Lauren E. Griffith, Parminder Raina
Summary: This study investigated the association of premature ovarian insufficiency (POI) and early menopause with bone mineral density (BMD) and osteoporosis in a large cohort of women in Canada. The results showed that POI was associated with an increased risk of osteoporosis, and current cigarette smoking was found to influence this association. Obesity and current hormone therapy use were protective factors against osteoporosis in women with POI.
MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY
(2021)
Article
Geriatrics & Gerontology
Tracy L. Habermehl, Kaden B. Underwood, Kevin D. Welch, Steven P. Gawrys, Kate C. Parkinson, Augusto Schneider, Michal M. Masternak, Jeffrey B. Mason
Summary: This study found that aging in female mice is associated with increased tremor amplitude and decreased grip strength, while exposure to young ovarian tissues/cells can reverse these effects. These findings suggest the importance of investigating the impact of ovarian somatic tissue on health and propose tremor amplitude changes as an additional marker of biological age.