scholarly journals Turner syndrome: counseling prior to oocyte donation

2007 ◽  
Vol 125 (2) ◽  
pp. 112-114 ◽  
Author(s):  
Ester Silveira Ramos
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Hormone Replacement ◽  
Genetic Diagnosis ◽  
Typical Feature ◽  
Oocyte Donation ◽  
Chromosomal Alterations ◽  
Increased Risk ◽  
Molecular Investigation

Ovarian failure is a typical feature of Turner syndrome (TS). Patients are followed clinically with hormone replacement therapy (HRT) and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifies prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identification of the X or Y chromosome is important for clinical management and follow-up.

Abstract 3573: Higher Soluble Thrombomodulin is Associated with Risk of Coronary Artery Calcification: Longitudinal Analysis of the Multi-Ethnic Study of Atherosclerosis (MESA)

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Dhananjay Vaidya ◽  
Mary Cushman ◽  
Paul Holvoet ◽  
Joseph F Polak ◽  
Robyn L McClelland ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Random Sample ◽  
Robust Regression ◽  
Subclinical Atherosclerosis ◽  
Hormone Replacement ◽  
Lipid Lowering ◽  
Significant Heterogeneity ◽  
Soluble Thrombomodulin ◽  
Increased Risk

Background. A prior cross sectional study reported that higher soluble thrombomodulin (sTM) was associated with subclinical atherosclerosis only in the presence of higher soluble intercellular adhesion molecule-1, sICAM-1. We evaluated this interaction longitudinally with regard to coronary artery calcium (CAC) in the MESA cohort. Methods: MESA is a multi-center longitudinal study with baseline measurements of endothelial biomarkers in a random sample (n=1000) of the baseline cohort. In the random sample, 374 men and 496 women had CT measurement for CAC (Agatston score) at baseline and a median follow-up of 2.9 years. Among those with no baseline CAC (n=490), we estimated the relative risk of detectable CAC at follow-up using general linear models with Gaussian error and robust standard errors. Among those with detectable baseline CAC (n=380), change in CAC on follow-up was modeled using robust regression that down-weights outliers. Models with log(sTM) as predictor were adjusted for follow-up time, sex, ethnicity and baseline age, BMI, smoking, diabetes, systolic blood pressure, total cholesterol, use of BP or lipid-lowering medications and for hormone replacement (HRT) in women in separate models. Interactions between sTM and sICAM-1, sex and ethnicity was assessed. Results: The median [interquartile range] of sTM was 38 [28 to 47] ng/mL for persons with incident detectable CAC, and 30 [23 to 41] ng/mL in those without (rank sum p <0.001). On adjustment, a 2-fold higher sTM at baseline (e.g., from 23 to 46 ng/mL) was associated with a 1.36-fold increased risk of detectable CAC on follow-up (95% CI: 1.03, 1.79, p=0.031). Among those with baseline detectable CAC, the rank correlation between sTM level and change in CAC score was 0.10 (p = 0.042), however, on adjustment, a 2-fold higher sTM was associated with a non-significant 0.86 Agatston units greater CAC change (p = 0.84). Higher sICAM-1 did not modify the association of sTM with CAC incidence (interaction p = 0.15) or change (interaction p = 0.26). There was no significant heterogeneity by sex, or ethnicity, or confounding by HRT in women. Conclusion: High circulating levels of sTM were independently associated with incident calcification of the coronary arteries.

scholarly journals Current Evidence of the Oncological Benefit-Risk Profile of Hormone Replacement Therapy

Medicina ◽  
2019 ◽  
Vol 55 (9) ◽  
pp. 573 ◽  
Author(s):  
Marta D’Alonzo ◽  
Valentina Elisabetta Bounous ◽  
Michela Villa ◽  
Nicoletta Biglia
Keyword(s):  
Hormone Replacement Therapy ◽  
Replacement Therapy ◽  
Hormone Replacement ◽  
Current Evidence ◽  
Conjugated Equine Estrogen ◽  
Colon Cancer Risk ◽  
Increased Risk ◽  
Intact Uterus ◽  
Progestin Therapy

Hormone replacement therapy (HRT) remains the most effective treatment for menopausal symptoms and has been shown to prevent bone loss and fracture. The progestogen is added to provide endometrial protection in women with an intact uterus. After the publication of the initial WHI (Women’s Health Initiative) results in 2002 reporting an overall increased risk of breast cancer, many women discontinued HRT. Despite the re-analysis of the results by subgroups of patients and updates with extended follow-up, much controversy remains, which we will analyze later in the text. Different types of estrogen or progestogen, as well as different formulations, doses, and durations, may play a role in HRT’s effects on breast tissue. Evidence states that conjugated equine estrogen (CEE), compared to estro-progestin therapy, shows a better profile risk (HR 0.79, CI 0.65–0.97) and that, among different type of progestins, those structurally related to testosterone show a higher risk (RR 3.35, CI 1.07–10.4). Chronic unopposed endometrial exposure to estrogen increases the risk of endometrial hyperplasia and cancer, whereas the association with progestins, especially in continuous combined regimen, seems to reduce the risk (RR 0.71, CI 0.56–0.90). HRT was also associated with a protective effect on colon cancer risk (HR 0.61, CI 0.42–0.87). Data about ovarian and cervical cancer are still controversial.

scholarly journals Growth hormone replacement does not increase serum prostate-specific antigen in hypopituitary men over 50 years

2002 ◽  
pp. 59-63 ◽  
Author(s):  
CW le Roux ◽  
PJ Jenkins ◽  
SL Chew ◽  
C Camacho-Hubner ◽  
AB Grossman ◽  
...  
Keyword(s):  
Prostate Specific Antigen ◽  
Gh Deficiency ◽  
Hormone Replacement ◽  
Specific Antigen ◽  
Prospective Longitudinal Study ◽  
Serum Prostate Specific Antigen ◽  
Increased Risk ◽  
Igf I ◽  
Prospective Longitudinal

OBJECTIVE: Epidemiological studies have shown an increased risk for prostate carcinoma in men with serum IGF-I in the upper part of the age-related reference range. Recombinant human GH (rhGH) is widely used in patients with GH deficiency, usually raising the serum IGF-I levels into the normal range: safety surveillance is therefore mandatory, with particular regard to neoplasia. The aim was to examine whether rhGH replacement in hypopituitary adults is associated with changes in serum prostate-specific antigen (PSA) as a surrogate marker of changes in prostatic growth. DESIGN AND METHODS: A prospective longitudinal study was used with a median follow-up of 22 (range 2.5-32) months, in which 41 men aged over 50 years with adult onset hypopituitarism and GH deficiency during rhGH replacement were examined. Serum PSA and IGF-I were measured at baseline and at latest follow-up. RESULTS: Mean serum PSA remained unchanged during rhGH replacement, with a median follow-up of 2 years. No correlation was found between the individual changes in serum IGF-I and changes in serum PSA. CONCLUSIONS: These data are reassuring thus far regarding the safety of GH replacement in relation to the prostate in this patient group.

scholarly journals Polymorphism in INSR Locus Modifies Risk of Atrial Fibrillation in Patients on Thyroid Hormone Replacement Therapy

2021 ◽  
Vol 12 ◽  
Author(s):  
Enrique Soto-Pedre ◽  
Moneeza K. Siddiqui ◽  
Cyrielle Maroteau ◽  
Adem Y. Dawed ◽  
Alex S. Doney ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Hormone Replacement Therapy ◽  
Thyroid Hormone ◽  
Candidate Gene ◽  
Replacement Therapy ◽  
Hormone Replacement ◽  
Thyroid Hormone Replacement ◽  
Increased Risk ◽  
Thyroid Hormone Replacement Therapy

AimsAtrial fibrillation (AF) is a risk for patients receiving thyroid hormone replacement therapy. No published work has focused on pharmacogenetics relevant to thyroid dysfunction and AF risk. We aimed to assess the effect of L-thyroxine on AF risk stratified by a variation in a candidate gene.Methods and ResultsA retrospective follow-up study was done among European Caucasian patients from the Genetics of Diabetes Audit and Research in Tayside Scotland cohort (Scotland, United Kingdom). Linked data on biochemistry, prescribing, hospital admissions, demographics, and genetic biobank were used to ascertain patients on L-thyroxine and diagnosis of AF. A GWAS-identified insulin receptor-INSR locus (rs4804416) was the candidate gene. Cox survival models and sensitivity analyses by taking competing risk of death into account were used. Replication was performed in additional sample (The Genetics of Scottish Health Research register, GoSHARE), and meta-analyses across the results of the study and replication cohorts were done. We analyzed 962 exposed to L-thyroxine and 5,840 unexposed patients who were rs4804416 genotyped. The rarer G/G genotype was present in 18% of the study population. The total follow-up was up to 20 years, and there was a significant increased AF risk for patients homozygous carriers of the G allele exposed to L-thyroxine (RHR = 2.35, P = 1.6e–02). The adjusted increased risk was highest within the first 3 years of exposure (RHR = 9.10, P = 8.5e–04). Sensitivity analysis yielded similar results. Effects were replicated in GoSHARE (n = 3,190).ConclusionHomozygous G/G genotype at the INSR locus (rs4804416) is associated with an increased risk of AF in patients on L-thyroxine, independent of serum of free thyroxine and thyroid-stimulating hormone serum concentrations.

scholarly journals Materno-Fetal Cardiovascular Complications in Turner Syndrome after Oocyte Donation: Insufficient Prepregnancy Screening and Pregnancy Follow-Up Are Associated with Poor Outcome

Endocrinology ◽  
2011 ◽  
Vol 152 (1) ◽  
pp. 334-335
Author(s):  
Nicolas Chevalier ◽  
Hélène Letur ◽  
Dominique Lelannou ◽  
Jeanine Ohl ◽  
Dominique Cornet ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
High Risk ◽  
Magnetic Resonance ◽  
Turner Syndrome ◽  
Growth Retardation ◽  
Cardiovascular Complications ◽  
Fetal Outcome ◽  
Oocyte Donation ◽  
Resonance Imaging

Context: Recombinant human GH treatment and oocyte donation (OD) have improved the quality of life in women with Turner syndrome (TS). However, life expectancy is reduced, mainly due to cardiovascular complications. Pregnancy may itself increase that risk and be associated with hazardous materno-fetal outcome. Objective: The objective of this study was to evaluate the materno-fetal outcome of ongoing pregnancies beyond 20 wk of gestation obtained by OD in TS. Design: This was a multicenter retrospective study including all assisted reproductive technology centers affiliated with the French Study Group for Oocyte Donation. Results: Among 93 patients, only 37.6% were prescreened with echocardiography or thoracic magnetic resonance imaging. Maternal outcome was dominated by 37.8% of pregnancy-associated hypertensive disorders including preeclampsia in 54.8% and severe eclampsia in four patients. Prematurity occurred in 38.3% and was correlated with PAHD (P = 0.01). The frequency of in utero growth retardation was 27.5%. One fetal demise was linked to eclampsia. Two patients died from aortic rupture after cesarean section in a context of aortic root dilatation. Only 40% of pregnancies were associated with an absolutely normal materno-fetal outcome. Conclusions: OD pregnancies in TS who have not been managed following recent specific recommendations were at high risk for maternal death by aortic dissection and for preeclampsia and its complications (fetal distress and in utero growth retardation). These recommendations include previous echocardiography, thoracic magnetic resonance imaging, and overnight blood pressure monitoring associated with a tight follow-up during pregnancy. Until future assessment of these recent recommendations, pregnancies obtained in TS after OD must be still considered as very high-risk pregnancies.

scholarly journals Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk

2017 ◽  
Vol 88 (3-4) ◽  
pp. 291-297 ◽  
Author(s):  
Tamar G. Baer ◽  
Christopher E. Freeman ◽  
Claudia Cujar ◽  
Mahesh Mansukhani ◽  
Bahadur  Singh ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Sex Chromosome ◽  
Heterogeneous Distribution ◽  
Gonadal Tissue ◽  
Malignancy Risk ◽  
Monosomy X ◽  
Increased Risk ◽  
A Cell ◽  
Chromosome Material

Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du­plicated Yq chromosome. Bilateral gonadectomy was performed and revealed streak gonads, without evidence of gonadoblastoma. Histological analysis showed ovarian stromal cells with few primordial tubal structures. FISH performed on streak gonadal tissue showed a heterogeneous distribution of SRY, with exclusive localization to the primordial tubal structures. DNA extraction from the gonadal tissue showed a 6.5% prevalence of SRY by microarray analysis, contrasting the 86% prevalence in the peripheral blood sample. This indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. This case also raises questions regarding malignancy risk associated with Y prevalence and tubal structures in gonadal tissue.

scholarly journals SAT-025 Increased Occurrence of Anemia, Gastrointestinal and Liver Diseases in Women with Turner Syndrome - a Nationwide Registry Study

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Mette Hansen Viuff ◽  
Kirstine Stochholm ◽  
Henning Grønbæk ◽  
Agnethe Berglund ◽  
Svend Juul ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Hormone Replacement Therapy ◽  
Liver Disease ◽  
Turner Syndrome ◽  
Gastrointestinal Hemorrhage ◽  
Hormone Replacement ◽  
Gastrointestinal Disorders ◽  
Bleeding Disorders ◽  
Increased Risk ◽  
Inflammatory Bowel

Abstract Background: Gastrointestinal disorders, such as celiac disease, inflammatory bowel diseases and liver disease have previously been described with increased occurrence in women with Turner syndrome. However, evidence towards increased occurrence of bleeding disorders and anemia are sparse. Likewise, the impact of hormone replacement therapy on gastrointestinal disorders remains unknown. Aim: To investigate the risk of bleeding disorders, anemia, gastrointestinal and hepatological disease in women with TS compared with the female background population and to assess the effect of HRT on these conditions. Design: National cohort study Method: 1,156 females with TS diagnosed during 1960–2014 were identified using the Danish Cytogenetic Central Registry and linked with personal-level data from the National Patient Registry and the Medication Statistics Registry. Statistics Denmark randomly identified 115,577 age-matched female controls. Negative binomial regression was used to analyze hospital discharge diagnoses. Medical prescriptions, mortality and the effect of hormone replacement therapy were estimated using stratified Cox regression. Results: The risk of anemia, coagulation disorders and gastrointestinal hemorrhage were all increased three-fold in women with TS compared with controls. Gastrointestinal disorders were twice as frequent in TS individuals, with a three-fold increased risk of inflammatory bowel disease and a twelve-fold increased risk of liver disease and elevated liver enzymes. Both gastrointestinal and hepatological mortality were increased three-fold in TS women. Conclusion: Anemia, gastrointestinal hemorrhage, inflammatory bowel disease is more frequent in women with Turner syndrome compared with controls. The risk of liver disease may be higher than previously reported.

scholarly journals Shereshevsky-Turner syndrome and pregnancy

2021 ◽  
Vol 38 (5) ◽  
pp. 70-77
Author(s):  
Vladimir P. Cheremiskin ◽  
Anna V. Filyanina
Keyword(s):  
Hormone Replacement Therapy ◽  
Effective Treatment ◽  
Replacement Therapy ◽  
Turner Syndrome ◽  
Hormone Replacement ◽  
Reproductive Technologies ◽  
Pregnancy And Childbirth ◽  
Increased Risk ◽  
Mosaic Form

Turner syndrome (TS) in most cases leads to infertility. However, the literature describes cases of physiological pregnancy in the mosaic form of TS. Thanks to accessory reproductive technologies, the number of women who have become mothers is increasing. But effective treatment of infertility is impossible without hormone replacement therapy. A woman with TS during pregnancy and childbirth should be under supervision because of the increased risk for obstetric and somatic pathology.

Late Effects in Survivors of Infantile Acute Leukemia Are Less Severe Than Expected: A Study of the L.E.a Program

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 3571-3571
Author(s):  
Virginie Gandemer ◽  
Jacinthe Bonneau ◽  
Caroline Oudin ◽  
Julie Berbis ◽  
Yves Bertrand ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Late Effects ◽  
Conflicts Of Interest ◽  
Psychological Intervention ◽  
Hormone Replacement ◽  
Growth Failure ◽  
Older Children ◽  
Late Sequelae ◽  
Increased Risk

Abstract Purpose The long-term impact of treatment in infants with acute leukemia (AL) is poorly understood and of concern. Patients and methods We analyzed the incidence, in the L.E.A. cohort, of and risk factors for late sequelae in the survivors of infant AL diagnosed before the age of one year, according to group: type of AL, transplantation, sex, and age ≤ or > 6 months. Of 113 survivors, 55 had had lymphoblastic AL and 58 myeloblastic AL. The median follow-up was 11.7 years [1.9-34.7]. Sixty-three were treated with chemotherapy only (and four with central nervous system irradiation) and 50 received transplantation (with a chemotherapy-based regimen except for three). Results The most frequently observed sequelae included problems of height, body mass index, and gonadal or thyroid function (Figure 1). We found a mean of 1.3 +/-0.1 sequelae per patient. In multivariate analysis, treatment after the age of six months significantly decreased the incidence of major growth failure (OR 0.38, p = 0.04) and low weight (OR 0.3, p = 0.02) (Figure 2). Transplants performed in first remission did not affect the occurrence of late effects (p = 0.2) (Figure 3). Parent-reported child quality of life (QoL) scores were similar among groups and to the normative population. Adults had diminished QoL as measured by psychosocial subscales relative to French norms but with no difference between groups. Conclusion Altogether, these results highlight the need for comprehensive follow-up with hormone replacement therapy and psychological intervention. Our results in a large cohort with very limited use of irradiation, did not show an increased risk of late sequelae relative to older children. We conclude, that transplantation should be considered when warranted, as there is no increased risk of late effects. Disclosures No relevant conflicts of interest to declare.

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