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
TLDR
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
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.
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.
Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review
TLDR
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.
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.
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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.
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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
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.
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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.
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TLDR
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TLDR
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