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Lawrence M. Nelson - One of the best experts on this subject based on the ideXlab platform.
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Premature Ovarian Failure is not Premature menopause
Annals of the New York Academy of Sciences, 2006Co-Authors: Sophia N Kalantaridou, Lawrence M. NelsonAbstract:Normal menopause occurs at an average age of 50 and results from Ovarian follicle depletion. Normal menopause is an irreversible condition, whereas Premature Ovarian Failure is characterized by intermittent Ovarian function in half of these young women. These young women produce estrogen intermittently and sometimes even ovulate despite the presence of high gonadotropin levels. Indeed, pregnancy has occurred after a diagnosis of Premature Ovarian Failure. On pelvic ultrasound examination, follicles were equally likely to be detected in patients more than 6 years after a diagnosis of Premature Ovarian Failure as in patients less than 6 years after the diagnosis. Thus, the probability of detecting a follicle appears to remain stable during the normal reproductive lifespan of these young women. Indeed, pregnancy was reported in a 44-year-old woman 16 years after a diagnosis of Premature Ovarian Failure. No treatment to restore fertility in patients with Premature Ovarian Failure has proved to be safe and effective in prospective controlled studies. Theoretically, these unproved therapies might even prevent one of these spontaneous pregnancies from occurring.
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assessing the emotional needs of women with spontaneous Premature Ovarian Failure
Fertility and Sterility, 2005Co-Authors: Karim A. Calis, Vien H. Vanderhoof, Sharon N Covington, Allison A Groff, Lynn R Halverson, Ray O Fitzgerald, Lawrence M. NelsonAbstract:Objective To examine women's emotional responses to learning the diagnosis of Premature Ovarian Failure (POF) and identify the sources of support used for coping. Design Observational study. Setting National Institutes of Health Clinical Center. Patient(s) One hundred women previously diagnosed with POF of median age 28 years at diagnosis. Intervention(s) Structured telephone interviews based on focus group findings. Main Outcome Measure(s) Manner informed of POF diagnosis, emotional response, and areas of emotional support. Result(s) Overall, 71% were unsatisfied with the manner in which they were informed by their clinician, and 89% reported experiencing moderate to severe emotional distress at the time. The degree of emotional distress was positively correlated with the degree of dissatisfaction with the manner in which the women had been informed of the diagnosis. Thorough and accurate medical information on POF, support of others, and spirituality were perceived as helpful in coping. Conclusion(s) Learning the diagnosis of POF can be emotionally traumatic and difficult for women. The findings suggest that the manner in which patients are informed of this diagnosis can significantly impact their level of distress. Patients perceive a need for clinicians to spend more time with them and provide more information about POF.
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an update spontaneous Premature Ovarian Failure is not an early menopause
Fertility and Sterility, 2005Co-Authors: Lawrence M. Nelson, Sharon N Covington, Robert W RebarAbstract:Objective To update clinicians regarding the management of women with spontaneous Premature Ovarian Failure (POF). Design Literature review and consensus building among three clinicians with experience in caring for women with spontaneous POF. Conclusion(s) Clearly the Ovarian "Failure" in this disorder is not permanent in all women. Approximately 5 % –10 % may conceive spontaneously and unexpectedly after the diagnosis. An integrated approach to management is best, and there is a need to first address physical and mental health issues before addressing plans for family building. Women with spontaneous POF are at increased risk of adrenal insufficiency, which should be detected and managed appropriately, especially before proceeding to ovum or embryo donation procedures. Young women with POF experience pathologically low serum E 2 levels at least intermittently. Despite the absence of controlled evidence for this specific population, physiologic replacement of Ovarian steroid hormones seems rational until the age of normal menopause. The disorder may be associated with other conditions that require evaluation and management, including hypothyroidism, dry eye syndrome, abnormal karyotype, or a premutation of the FMR1 gene. Finally, clinicians need to be sensitive to the emotional aspects of this disorder when delivering the diagnosis and during subsequent management.
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Autoimmune oophoritis as a mechanism of follicular dysfunction in women with 46,XX spontaneous Premature Ovarian Failure
Fertility and sterility, 2005Co-Authors: Vladimir K. Bakalov, J N Anasti, Karim A. Calis, Vien H. Vanderhoof, Ahalya Premkumar, Shu Chen, Jadwiga Furmaniak, B. Rees Smith, Maria J. Merino, Lawrence M. NelsonAbstract:Objective To assess the association between serum adrenal cortex autoantibodies and histologically confirmed autoimmune lymphocytic oophoritis. Design Controlled, prospective. Setting Tertiary research center. Patient(s) Two hundred sixty-six women with 46,XX spontaneous Premature Ovarian Failure. Intervention(s) Ovarian biopsy in 10 women. Main Outcome Measure(s) Serum adrenal cortex autoantibodies assessed by indirect immunofluorescence and autoimmune oophoritis assessed by immunohistochemical lymphocyte markers. Result(s) We obtained a histologic diagnosis of autoimmune oophoritis in four women who tested positive for adrenal cortex autoantibodies and excluded this diagnosis in Ovarian biopsies from six women who tested negative for adrenal cortex autoantibodies (4/4 vs. 0/6). Women with histologically confirmed autoimmune oophoritis had a greater total Ovarian volume as assessed by transvaginal sonography (11.4 ± 5.6 mL vs. 1.5 ± 0.4 mL) (mean ± SEM). They were also more likely to have subclinical adrenal insufficiency and clinical signs of androgen deficiency (3/4 vs. 0/6). Overall, 10/266 women tested positive for adrenal cortex autoantibodies (3.8%, 95% confidence interval: 1.8%–6.5%). Conclusion(s) In women who present with 46,XX spontaneous Premature Ovarian Failure as their primary concern there is a clear association between serum adrenal cortex autoantibodies and the presence of histologically confirmed autoimmune oophoritis.
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meeting the needs of young women with secondary amenorrhea and spontaneous Premature Ovarian Failure
Obstetrics & Gynecology, 2002Co-Authors: Nahrain H Alzubaidi, Karim A. Calis, Vien H. Vanderhoof, Heather L Chapin, Lawrence M. NelsonAbstract:Abstract OBJECTIVE: To investigate the experiences of young women with spontaneous Premature Ovarian Failure with regard to the initial presenting symptom, promptness of diagnosis, and patient education. METHODS: We asked 50 patients previously diagnosed with spontaneous Premature Ovarian Failure to participate in a structured interview survey consisting of 38 true-or-false, multiple-choice, and open-ended questions. RESULTS: Disturbance in menstrual pattern was the most common initial symptom in the 48 women who completed the interview (44 of 48, 92%). Over half of the 44 women who presented with this complaint reported visiting a clinician’s office three or more times before laboratory testing was performed to determine the diagnosis. Over half of them reported seeing three or more different clinicians before diagnosis. In 25% of women it took longer than 5 years for the diagnosis of Premature Ovarian Failure to be established. Patients who spent more than 5 minutes with the clinician discussing the diagnosis were significantly more likely to be satisfied with the manner in which they were informed (P CONCLUSION: Women with spontaneous Premature Ovarian Failure perceived a need for more aggressive evaluation of secondary amenorrhea and oligomenorrhea. Loss of menstrual regularity can be a sign of Ovarian insufficiency, and the associated estrogen deficiency is a well-established risk factor for osteoporosis.
Andrew N. Shelling - One of the best experts on this subject based on the ideXlab platform.
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1 Premature Ovarian Failure
2016Co-Authors: Andrew N. ShellingAbstract:Premature Ovarian Failure (POF) is a common cause of infertility in women, characterised by amenorrhea, hypoestrogenism, and elevated gonadotrophin levels in women under the age of 40. Known causes include iatragenic agents causing permanent damage to the ovaries, such as chemotherapy, radiation therapy and surgery, autoimmune conditions, X-chromosome abnormalies and autosomal genetic conditions. However, few genes have been identified that can explain a substantial proportion of cases of POF. Most women with POF are deeply upset by the diagnosis, partly due to the unexpected menopausal symptoms, but also to infertility. Therefore, early detection would provide better opportunity for early intervention, and furthermore, the identification of specific gene defects will help to direct potential targets for future treatment
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the genetics of Premature Ovarian Failure current perspectives
International Journal of Women's Health, 2015Co-Authors: Chevy Chapman, Lynsey M Cree, Andrew N. ShellingAbstract:Premature Ovarian Failure (POF) is a common cause of infertility in women, characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age of 40. Many genes have been identified over the past few years that contribute to the development of POF. However, few genes have been identified that can explain a substantial proportion of cases of POF. The unbiased approaches of genome-wide association studies and next-generation sequencing technologies have identified several novel genes implicated in POF. As only a small proportion of genes influencing idiopathic POF have been identified thus far, it remains to be determined how many genes and molecular pathways may influence idiopathic POF development. However, owing to POF's diverse etiology and genetic heterogeneity, we expect to see the contribution of several new and novel molecular pathways that will greatly enhance our understanding of the regulation of Ovarian function. Future genetic studies in large cohorts of well-defined, unrelated, idiopathic POF patients will provide a great opportunity to identify the missing heritability of idiopathic POF. The identification of several causative genes may allow for early detection and would provide better opportunity for early intervention, and furthermore, the identification of specific gene defects will help direct potential targets for future treatment.
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Premature Ovarian Failure
Reproduction, 2010Co-Authors: Andrew N. ShellingAbstract:Premature Ovarian Failure (POF) is a common cause of infertility in women, and is characterised by amenorrhoea, hypo-oestrogenism and elevated gonadotrophin levels in women under the age of 40. Known causes include iatrogenic agents that cause permanent damage to the ovaries, such as chemotherapy, radiation therapy and surgery, autoimmune conditions, X-chromosome abnormalities and autosomal genetic conditions. However, few genes have been identified that can explain a substantial proportion of cases of POF. Most women with POF are deeply upset by the diagnosis, partly due to the unexpected menopausal symptoms, but also due to infertility. Therefore, early detection would provide better opportunity for early intervention, and furthermore, the identification of specific gene defects will help to direct potential targets for future treatment.
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inhibin and Premature Ovarian Failure
Human Reproduction Update, 2010Co-Authors: Ashwini L. Chand, Craig A Harrison, Andrew N. ShellingAbstract:Background Elucidation of the causes of Premature Ovarian Failure (POF) is difficult due to the heterogeneity of the condition. Inhibin is a potential candidate gene for POF based on its dual actions on FSH secretion by the pituitary and gametogenesis in the gonads. A missense mutation in the inhibin alpha subunit gene (INHA G769A) is associated with POF in several populations. However, there is phenotypic heterogeneity in INHA G769A mutation carriers. Methods Relevant studies were identified by searching PubMed and mutational frequencies combined for meta-analysis. Results Meta-analysis of published studies revealed a risk difference of 0.04 (-0.030 to 0.11). The occurrence of asymptomatic carriers in populations suggests incomplete penetrance and/or a multi-genetic cause of POF. We propose that a decline in inhibin bioactivity caused by the mutation could increase FSH levels; and in a susceptible individual, the heightened sensitivity to gonadotrophins causes POF. Impaired paracrine effects of inhibin could impact folliculogenesis due to reduced antagonism of activin, bone morphogenetic protein 15 and growth differentiation factor 9. Functional studies of this mutation indicate normal production of dimeric inhibin A and B and impaired bioactivity of inhibin B. Conclusions The identification of an autosomal mutation in the inhibin alpha subunit gene that is significantly linked to POF in certain ethnic populations highlights the role of inhibin in the regulation of Ovarian biology and fertility. Although the reduction of inhibin B bioactivity by the INHA G769A mutation is clearly not the only cause, evidence suggests that this change may serve as a susceptibility factor, increasing the likelihood of POF.
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an investigation into foxe1 polyalanine tract length in Premature Ovarian Failure
Molecular Human Reproduction, 2006Co-Authors: Wendy J. Watkins, Sarah E. Harris, Ingrid Winship, Ksenija Gersak, Megan J Craven, Andrea L Vincent, Andrew N. ShellingAbstract:Premature Ovarian Failure (POF) is a common condition affecting 1% of women worldwide. There is strong evidence for genetic involvement in POF as many cases are familial, and mutations in several genes have been associated with POF. We investigated variation in FOXE1 polyalanine tract length, following the observation that polyalanine tract deletions are seen in the closely related FOXL2 in patients with POF. In addition, polyalanine tract expansions in FOXL2 are often seen in patients with blepharophimosis–ptosis–epicanthus inversus syndrome (BPES), a rare eyelid disorder often associated with POF. The FOXE1 polyalanine tract shows marked variation in its length between POF patients and normal controls, existing as an allele of 12, 14, 16, 17 or 19 alanine residues. We found evidence to suggest that variation in FOXE1 polyalanine tract length predisposes to POF.
Stefano Cianfarani - One of the best experts on this subject based on the ideXlab platform.
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Premature Ovarian Failure absence of pubic and axillary hair with de novo 46 x t x 15 q24 q26 3
American Journal of Medical Genetics Part A, 2010Co-Authors: Claudio Giacomozzi, Francesca Gullotta, Giovanni Federico, Isabella Colapietro, Anna Maria Nardone, Stefano CianfaraniAbstract:We report on an adolescent girl with Premature Ovarian Failure (POF), de novo unbalanced translocation X;15(q24;q26.3) with partial Xq24 duplication, and absence of pubic and axillary hair. Endocrine assessment showed normal adrenal and Ovarian function. Chromosomal abnormality was identified by standard cytogenetic methods, array-CGH, and FISH analysis. Mutation analysis showed normal androgen receptor genes. Pubic and axillary hair began developing during estrogen + progesterone therapy. Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence. © 2010 Wiley-Liss, Inc.
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Premature Ovarian Failure absence of pubic and axillary hair with de novo 46 x t x 15 q24 q26 3
American Journal of Medical Genetics Part A, 2010Co-Authors: Claudio Giacomozzi, Francesca Gullotta, Giovanni Federico, Isabella Colapietro, Anna Maria Nardone, Stefano CianfaraniAbstract:We report on an adolescent girl with Premature Ovarian Failure (POF), de novo unbalanced translocation X;15(q24;q26.3) with partial Xq24 duplication, and absence of pubic and axillary hair. Endocrine assessment showed normal adrenal and Ovarian function. Chromosomal abnormality was identified by standard cytogenetic methods, array-CGH, and FISH analysis. Mutation analysis showed normal androgen receptor genes. Pubic and axillary hair began developing during estrogen + progesterone therapy. Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence.
Sophia N Kalantaridou - One of the best experts on this subject based on the ideXlab platform.
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Premature Ovarian Failure endothelial dysfunction and estrogen progestogen replacement
Trends in Endocrinology and Metabolism, 2006Co-Authors: Sophia N Kalantaridou, Katerina K Naka, Aris Bechlioulis, Antonis Makrigiannakis, Lampros K Michalis, George P ChrousosAbstract:Cardiovascular disease, including coronary artery disease, stroke and peripheral vascular disease, is the leading cause of death among women. Vascular endothelial dysfunction is an early marker of atherosclerosis. Women with Premature Ovarian Failure (or Premature menopause) present an increased risk for cardiovascular disease, which might be attributed to the early onset of vascular endothelial dysfunction, associated with sex steroid deficiency. Cyclical estrogen and progestogen therapy has been shown to restore endothelial function in these young women. Further research is required to assess primarily the long-term effects of hormone replacement therapy on cardiovascular and overall prognosis in young women with Premature Ovarian Failure, as well as the effects of different doses, duration and routes of hormone administration in these women.
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Premature Ovarian Failure is not Premature menopause
Annals of the New York Academy of Sciences, 2006Co-Authors: Sophia N Kalantaridou, Lawrence M. NelsonAbstract:Normal menopause occurs at an average age of 50 and results from Ovarian follicle depletion. Normal menopause is an irreversible condition, whereas Premature Ovarian Failure is characterized by intermittent Ovarian function in half of these young women. These young women produce estrogen intermittently and sometimes even ovulate despite the presence of high gonadotropin levels. Indeed, pregnancy has occurred after a diagnosis of Premature Ovarian Failure. On pelvic ultrasound examination, follicles were equally likely to be detected in patients more than 6 years after a diagnosis of Premature Ovarian Failure as in patients less than 6 years after the diagnosis. Thus, the probability of detecting a follicle appears to remain stable during the normal reproductive lifespan of these young women. Indeed, pregnancy was reported in a 44-year-old woman 16 years after a diagnosis of Premature Ovarian Failure. No treatment to restore fertility in patients with Premature Ovarian Failure has proved to be safe and effective in prospective controlled studies. Theoretically, these unproved therapies might even prevent one of these spontaneous pregnancies from occurring.
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impaired endothelial function in young women with Premature Ovarian Failure normalization with hormone therapy
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Sophia N Kalantaridou, Karim A. Calis, Katerina K Naka, E G Papanikolaou, Nicolaos Kazakos, Maria Kravariti, Evangelos Paraskevaidis, Demetrios Sideris, Agathocles Tsatsoulis, George P ChrousosAbstract:Normal menopause is associated with vascular endothelial dysfunction, an early stage of atherosclerosis. The effect of Premature Ovarian Failure (or Premature menopause) on endothelial function in young women is unknown. Endothelial function was assessed in 18 women with Premature Ovarian Failure before and after 6 months of hormone therapy and was compared with the endothelial function of 20 age- and body mass index-matched premenopausal women. Brachial artery diameter was measured both during hyperemia (an index of endothelium-dependent vasodilation) and in response to glyceryl trinitrate (an index of endothelium-independent vasodilation). Flow-mediated dilation was significantly lower in women with Premature Ovarian Failure at baseline (increase in brachial artery diameter during hyperemia by 3.06 4.33%) than in control women (increase by 8.84 2.15%; P < 0.0005). Glyceryl trinitrate-induced vasodilation did not differ between the groups. After hormone therapy for 6 months, flowmediated dilation was improved in women with Premature Ovarian Failure, increasing by more than 2-fold (7.41 3.86%; P < 0.005 compared with pretreatment) and reaching normal values (P not significant compared with control women). Glyceryl trinitrate-induced vasodilation did not change after treatment in women with Premature Ovarian Failure. Young women with Premature Ovarian Failure have significant vascular endothelial dysfunction. Early onset of endothelial dysfunction associated with sex steroid deficiency may contribute to the increased risk of cardiovascular disease and mortality in young women with Premature Ovarian Failure. Hormone therapy restores endothelial function within 6 months of treatment. (J Clin Endocrinol Metab 89: 3907–3913, 2004)
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Premature Ovarian Failure
Endocrinology and Metabolism Clinics of North America, 1998Co-Authors: Sophia N Kalantaridou, Susan R Davis, Lawrence M. NelsonAbstract:In 1% of women, Premature Ovarian Failure develops by 40 years of age, a condition causing amenorrhea, infertility, sex steroid deficiency, and elevated gonadotropins. Early loss of Ovarian function has significant psychosocial sequelae and major health implications. These young women have a nearly two-fold age-specific increase in mortality rate. Among women with spontaneous Premature Ovarian Failure who have a normal karyotype, half have Ovarian follicles remaining in the ovary that function intermittently. Indeed, pregnancies have occurred after the diagnosis of Premature Ovarian Failure. Thus, Premature Ovarian Failure should not be considered as a Premature menopause. Young women with this disorder have a 5% to 10% chance for spontaneous pregnancy. Attempts at ovulation induction using various regimens fail to induce ovulation rates greater than those seen in untreated patients; however, oocyte donation for women desiring fertility is an option. Young women with Premature Ovarian Failure need a thorough assessment, sex steroid replacement, and long-term surveillance to monitor therapy. Estrogen-progestin replacement therapy should be instituted as soon as the diagnosis is made. Androgen replacement should also be considered for women with low libido, persistent fatigue, and poor well-being despite taking adequate estrogen replacement. Women with Premature Ovarian Failure should be followed up for the presence of associated autoimmune endocrine disorders such as hypothyroidism, adrenal insufficiency, and diabetes mellitus.
Claudio Giacomozzi - One of the best experts on this subject based on the ideXlab platform.
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Premature Ovarian Failure absence of pubic and axillary hair with de novo 46 x t x 15 q24 q26 3
American Journal of Medical Genetics Part A, 2010Co-Authors: Claudio Giacomozzi, Francesca Gullotta, Giovanni Federico, Isabella Colapietro, Anna Maria Nardone, Stefano CianfaraniAbstract:We report on an adolescent girl with Premature Ovarian Failure (POF), de novo unbalanced translocation X;15(q24;q26.3) with partial Xq24 duplication, and absence of pubic and axillary hair. Endocrine assessment showed normal adrenal and Ovarian function. Chromosomal abnormality was identified by standard cytogenetic methods, array-CGH, and FISH analysis. Mutation analysis showed normal androgen receptor genes. Pubic and axillary hair began developing during estrogen + progesterone therapy. Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence. © 2010 Wiley-Liss, Inc.
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Premature Ovarian Failure absence of pubic and axillary hair with de novo 46 x t x 15 q24 q26 3
American Journal of Medical Genetics Part A, 2010Co-Authors: Claudio Giacomozzi, Francesca Gullotta, Giovanni Federico, Isabella Colapietro, Anna Maria Nardone, Stefano CianfaraniAbstract:We report on an adolescent girl with Premature Ovarian Failure (POF), de novo unbalanced translocation X;15(q24;q26.3) with partial Xq24 duplication, and absence of pubic and axillary hair. Endocrine assessment showed normal adrenal and Ovarian function. Chromosomal abnormality was identified by standard cytogenetic methods, array-CGH, and FISH analysis. Mutation analysis showed normal androgen receptor genes. Pubic and axillary hair began developing during estrogen + progesterone therapy. Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence.
