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View article: Clinical practice guidelines for the care of girls and women with Turner syndrome
Clinical practice guidelines for the care of girls and women with Turner syndrome Open
Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics …
View article: Endocrine, cardiac and neuropsychological aspects of adult congenital adrenal hyperplasia
Endocrine, cardiac and neuropsychological aspects of adult congenital adrenal hyperplasia Open
Objective To investigate the metabolic, cardiovascular, and neuropsychological phenotype, quality of life (QoL), and hormonal regulation in individuals with congenital adrenal hyperplasia (CAH), a group of autosomal recessive disorders cha…
View article: The multi-omic landscape of sex chromosome abnormalities: current status and future directions
The multi-omic landscape of sex chromosome abnormalities: current status and future directions Open
Sex chromosome abnormalities (SCAs) are chromosomal disorders with either a complete or partial loss or gain of sex chromosomes. The most frequent SCAs include Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Trisomy X syndrome (47,X…
View article: AMH and other markers of ovarian function in patients with Turner syndrome – a single center experience of transition from pediatric to gynecological follow up
AMH and other markers of ovarian function in patients with Turner syndrome – a single center experience of transition from pediatric to gynecological follow up Open
Turner syndrome (TS) is a chromosomal disorder that affects about 1 in 2500 female births and is characterized by the partial or complete absence of the second X chromosome. Depending on karyotype, TS is associated with primary ovarian ins…
View article: Additional file 3 of X chromosome dosage and the genetic impact across human tissues
Additional file 3 of X chromosome dosage and the genetic impact across human tissues Open
Additional file 3: Table S1. X chromosomal DEGs between 45,X vs 46,XX in blood. Table S2. X chromosomal DEGs between 45,X vs 47,XXY in blood. Table S3. X chromosomal DEGs between 45,X vs 46,XY in blood. Table S4. X chromosomal DEGs between…
View article: The Changing Face of Turner Syndrome
The Changing Face of Turner Syndrome Open
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45,X) or parts thereof. It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ovarian dy…
View article: Women With Turner Syndrome Are Both Estrogen and Androgen Deficient: The Impact of Hormone Replacement Therapy
Women With Turner Syndrome Are Both Estrogen and Androgen Deficient: The Impact of Hormone Replacement Therapy Open
Context Women with Turner syndrome (TS) suffer from hypergonadotropic hypogonadism, causing a deficit in gonadal hormone secretion. As a consequence, these women are treated with estrogen from the age of 12 years, and later in combination …
View article: Increased occurrence of liver and gastrointestinal diseases and anaemia in women with Turner syndrome – a nationwide cohort study
Increased occurrence of liver and gastrointestinal diseases and anaemia in women with Turner syndrome – a nationwide cohort study Open
Summary Background Liver and gastrointestinal diseases are frequent in women with Turner syndrome. However, their association with bleeding disorders, anaemia and the impact of hormone replacement therapy is unknown. Aims To investigate th…
View article: SAT-025 Increased Occurrence of Anemia, Gastrointestinal and Liver Diseases in Women with Turner Syndrome - a Nationwide Registry Study
SAT-025 Increased Occurrence of Anemia, Gastrointestinal and Liver Diseases in Women with Turner Syndrome - a Nationwide Registry Study Open
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 occur…
View article: Care of adult women with Turner syndrome: the state of affairs in Germany
Care of adult women with Turner syndrome: the state of affairs in Germany Open
In this commentary, we discuss the state of affairs concerning the clinical care of females with Turner syndrome (TS) in Germany. TS is a rare disease and new international guidelines describe an appropriate setup for optimal clinical care…
View article: Sex Hormone Replacement Therapy in Turner Syndrome: Impact on Morbidity and Mortality
Sex Hormone Replacement Therapy in Turner Syndrome: Impact on Morbidity and Mortality Open
Context The long-term effects of female hormone replacement therapy (HRT) in Turner syndrome (TS) are unknown. Objective To examine morbidity, mortality and medicinal use in TS and the impact of HRT in 45,X women. Design and Setting Nation…
View article: Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years Open
Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicin…
View article: SUN-225 The 47,XYY Syndrome Is Associated with Increased Morbidity: A Nationwide Registry Study
SUN-225 The 47,XYY Syndrome Is Associated with Increased Morbidity: A Nationwide Registry Study Open
Background: Although the 47,XYY syndrome is one of the most common sex chromosome abnormalities in males, as being diagnosed in 18 per 100,000 newborns, little is known about the long-term health outcomes of this condition. Objective: To …
View article: SAT-284 Sex Hormone Replacement Therapy in Turner Syndrome and the Impact on Morbidity and Mortality
SAT-284 Sex Hormone Replacement Therapy in Turner Syndrome and the Impact on Morbidity and Mortality Open
Background: In Turner Syndrome (TS) it is recommended to induce puberty around 11-12 years of age, by initiating hormone replacement therapy (HRT), when premature ovarian failure is diagnosed. However, evidence for the long-term effects on…
View article: Morbidity, Mortality, and Socioeconomics in Females With 46,XY Disorders of Sex Development: A Nationwide Study
Morbidity, Mortality, and Socioeconomics in Females With 46,XY Disorders of Sex Development: A Nationwide Study Open
Morbidity was not increased in XY females when excluding diagnoses associated to the DSD condition per se. Judged on education and income, XY females perform well in the labor market. However, DSD seems to impact on the prospects of family…
View article: Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development
Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development Open
The first estimate on prevalence of 46,XY females is 6.4 per 100 000 live born females. The presentation of AIS and gonadal dysgenesis is distinctly different, with AIS being diagnosed during childhood and gonadal dysgenesis during puberta…