Turner syndrome: mechanisms and management
@article{Gravholt2019TurnerSM, title={Turner syndrome: mechanisms and management}, author={Claus H{\o}jbjerg Gravholt and Mette Hansen Viuff and Sara Brun and Kirstine Stochholm and Niels Holmark Andersen}, journal={Nature Reviews Endocrinology}, year={2019}, pages={1-14} }
Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders such as type 1 and type 2 diabetes mellitus, osteoporosis and autoimmune disorders. Morbidity and mortality are increased in women with Turner syndrome…
77 Citations
A Review of Recent Developments in Turner Syndrome Research
- MedicineJournal of cardiovascular development and disease
- 2021
A review of the recent literature surrounding the symptoms, mechanisms, diagnosis, and treatment of Turner syndrome with a focus on cardiovascular manifestations and genome-wide epigenetic changes holds promise for providing insights that will improve the medical management of individuals with Turner syndrome.
Turner Syndrome
- Medicine, BiologyEndocrines
- 2022
TS is established as a multisystemic condition, with several endocrine manifestations of TS affecting growth, puberty and fertility having significant impact on quality of life and treatment guidelines are in place.
Turner syndrome and autosomal dominant polycystic kidney disease
- Medicine, BiologyProceedings
- 2020
A case of a young girl with Turner syndrome and associated short stature on growth hormone treatment who presented with cystic renal disease found to be autosomal dominant kidney disease is presented and it is proposed reevaluation of renal screening guidelines in this population due to the potential association of growth hormone and cyst proliferation.
Pregnancy in a Patient With Mosaic Turner Syndrome: A Case Report
- Medicine
- 2020
Pregnancy in TS patients is an unusual case; however, pregnancy could rarely occur in mosaicism TS patients without any assistance, so cohort studies based on karyotype characterization are strongly recommended to decrease the patient’s concerns as well as to follow more practical clinical approaches.
Y Chromosome Material in Turner Syndrome
- Medicine, BiologyCureus
- 2021
It is recommended that individuals with Turner syndrome be screened for Y chromatin, especially in terms of the risk of developing gonadoblastoma, with advanced clinical consultation.
Cardiovascular considerations in management of patients with Turner syndrome.
- Medicine, BiologyTrends in cardiovascular medicine
- 2021
Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review
- Medicine
- 2021
Meiotic and mitotic errors during gametogenesis and fetal development, respectively, can cause chromosomal abnormalities, which predispose to infertility, and couples who are at increased risk, particularly those with a family history of infertility and women at an advanced age (≥ 35 years), should seek medical advice before getting pregnant.
Recurrent gastrointestinal bleeding due to vascular malformations in a girl with Turner syndrome.
- MedicinePediatric endocrinology, diabetes, and metabolism
- 2021
In TS patients with iron deficiency anemia, the differential diagnostics should include vascular defects in the GI, and there are evidences, that estrogen therapy may limit the number of lesions and reduce the risk of bleeding.
The contribution of Xp22.31 gene dosage to Turner and Klinefelter syndromes and sex-biased phenotypes.
- BiologyEuropean journal of medical genetics
- 2021
References
SHOWING 1-10 OF 209 REFERENCES
Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.
- MedicineJournal of hypertension
- 2015
The relationship between blood pressure, aortic dilation and increased cardiovascular risk is described and an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applies in daily practice.
Glucose Metabolism in Turner Syndrome
- Medicine, BiologyFront. Endocrinol.
- 2019
This review extensively review the available evidence pertaining to the influence of insulin secretion and sensitivity, obesity, autoimmunity, lifestyle, growth hormone, and sex hormone replacement therapy on the occurrence of DM in patients with TS.
Autoimmune disorders in women with turner syndrome and women with karyotypically normal primary ovarian insufficiency.
- Medicine, BiologyJournal of autoimmunity
- 2012
Autoimmune stigmata in Turner syndrome: when lacks an X chromosome.
- Medicine, BiologyJournal of autoimmunity
- 2009
Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome.
- MedicineThe Journal of clinical endocrinology and metabolism
- 2001
Most cardiovascular risk factors were not increased, but hypertension was more common in Turner syndrome women, and diabetes or hypertension was not related to karyotype.
Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology.
- Medicine, BiologyEndocrine reviews
- 2012
An up-to-date condensation of current state-of-the-art knowledge in Turner syndrome provides insight into pathogenesis of Turner syndrome with perspectives to advances in the understanding of genetics of the X-chromosome.
Medical care of girls with Turner Syndrome: where are we lacking?
- MedicineEndocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
- 2011
This is the first study evaluating medical care in a large cohort of pediatric patients with Turner syndrome, and the findings emphasize the need for continual education of all physicians involved in the care of this population.
Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome.
- MedicineThe Journal of clinical endocrinology and metabolism
- 1997
The increased percentage of spontaneous menarche is Turner's syndrome reported in the recent literature might be due to increased ascertainment by diligent screening for Turner’s syndrome in girls with short stature and mild or no Turner's Syndrome stigmata, even though they may be menstruating.