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… 
A Review of Recent Developments in Turner Syndrome Research
TLDR
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 and autosomal dominant polycystic kidney disease
TLDR
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.
Heart and Turner syndrome.
TLDR
Recent data concerning the progression of aortic diameters as well as current molecular knowledge of the cardiovascular system in patients with TS are presented.
Pregnancy in a Patient With Mosaic Turner Syndrome: A Case Report
TLDR
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
TLDR
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.
TLDR
An overview of the cardiovascular assessment, management and follow up strategies in this high-risk population of TS patients is provided.
Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review
Background Much interest has not been placed on the role of chromosomal abnormalities in the pathogenesis and rising prevalence of infertility in recent times. This review was conducted to renew
Recurrent gastrointestinal bleeding due to vascular malformations in a girl with Turner syndrome.
TLDR
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.
  • W. Davies
  • Medicine
    European journal of medical genetics
  • 2021
TLDR
It is considered how lower Xp22.31 gene dosage in males may increase their likelihood of exhibiting particular phenotypes relative to females, and how altered gene dosage within this small interval (and of the steroid sulfatase (STS) gene in particular) may influence the phenotypic profiles of TS and KS.
An extremely rare combination of acute intermittent porphyria and Turner syndrome.
TLDR
The conditions of AIP co-existing TS are complicate, and the treatment still needs to be improved by multiple disciplines in the follow-up.
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TLDR
In conclusion, TS is a condition associated with a number of autoimmune manifestations and early diagnosis and regular screening for potential associated autoimmune conditions are essential in the medical follow-up of TS patients.
Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.
TLDR
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.
Morbidity in Turner syndrome.
TLDR
The data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, hyperinsulinemia and hyperuricemia), which may help to explain the decreased life span found in patients withTurner syndrome.
Glucose Metabolism in Turner Syndrome
TLDR
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.
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TLDR
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TLDR
Turner patients evolve towards autoimmunity much more frequently than people with normal karyotype without any relevant excess of the putative immunogenetic risk markers, which underscores the great influence of X-chromosome abnormalities in the development of autoimmune disorders.
Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome.
TLDR
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TLDR
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?
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TLDR
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.
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TLDR
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.
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