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Turner syndrome
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====Internal medicine==== Turner syndrome is associated with a broad variety of health considerations, such as liver and kidney issues, obesity, diabetes, and [[hypertension]].<ref name="ajmga1" /> Liver dysfunction is common in women with Turner syndrome, with 50–80% having elevated [[liver enzymes]].<ref name="nre">{{cite journal | vauthors = Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH | title = Turner syndrome: mechanisms and management | journal = Nature Reviews. Endocrinology | volume = 15 | issue = 10 | pages = 601–614 | date = October 2019 | pmid = 31213699 | doi = 10.1038/s41574-019-0224-4 | s2cid = 190653543 }}</ref> [[Non-alcoholic fatty liver disease]] is increased in prevalence in Turner syndrome, likely related in part to both conditions' associations with obesity. Hepatic vascular diseases are also seen in the syndrome as an aspect of Turner syndrome's broader vascular, aortic and cardiac impacts. [[Primary biliary cholangitis]] is more common in 45,X0 than 46,XX women. An unclear association exists between estrogen replacement therapy and liver dysfunction in Turner syndrome; some studies imply estrogen therapy worsens such conditions, while others imply improvement.<ref name="li">{{cite journal | vauthors = Roulot D | title = Liver involvement in Turner syndrome | journal = Liver International | volume = 33 | issue = 1 | pages = 24–30 | date = January 2013 | pmid = 23121401 | doi = 10.1111/liv.12007 | doi-access = free }}</ref> [[File:Duplicated ureter.svg|thumb|left|upright=0.75|Duplicated ureter]] Kidney issues, such as [[horseshoe kidney]], are sometimes observed in Turner syndrome.<ref name="nre" /> Horseshoe kidney, where the kidneys are fused together in a U-shape, occurs in around 10% of Turner's cases compared to less than 0.5% of the general population. A missing kidney is observed in as many as 5% of individuals with Turner syndrome, compared to around 0.1% of the population. A [[duplicated ureter]], where two [[ureter]]s drain a single kidney, occurs in as much as 20–30% of the Turner syndrome population. Kidney malformations ( horseshoe kidney, etc.) in Turner syndrome may be more common in mosaicism than in the full 45,X karyotype.<ref name="pn">{{cite journal | vauthors = Fanos V, Schena S, Dal Moro A, Portuese A, Antoniazzi F | title = Multicystic kidney dysplasia and Turner syndrome: two cases and a literature review | journal = Pediatric Nephrology | volume = 14 | issue = 8–9 | pages = 754–757 | date = August 2000 | pmid = 10955920 | doi = 10.1007/PL00013430 | s2cid = 42881441 }}</ref> Serious complications of the kidney anomalies associated with Turner syndrome are rare, although there is some risk of issues such as [[obstructive uropathy]], where the flow of urine from the kidneys is blocked.<ref name="ajmga1" /> Women with Turner syndrome are more likely than average to have high blood pressure; as many as 60% of women with the condition are hypertensive. [[Isolated diastolic hypertension]] often precedes [[systolic hypertension]] in the condition and may develop at a young age. Treatments for hypertension in Turner syndrome are as in the general population.<ref name="ajmga1" /> Approximately 25–80% of women with Turner syndrome have some level of [[insulin resistance]], and a minority develop [[type 2 diabetes]]. The risk of diabetes in Turner syndrome varies by karyotype and appears to be raised by specific deletions of the [[Locus (genetics)|short arm]] of the X chromosome (Xp). One study found that while a relatively low 9% of women with Xq (long arm) deletions had type 2 diabetes, 18% of those with full 45,X0 karyotypes did, as well as 23% with Xp deletions. 43% of women with [[isochromosome]] Xq, who both lacked the short arm and had an additional copy of the long arm, developed type 2 diabetes.<ref name="nre" /> Though part of the diabetes risk in Turner syndrome is a function of weight control, some is independent; age- and weight-matched women with non-Turner's ovarian failure have a lower diabetes risk than in Turner syndrome. Growth hormone treatment plays an unclear role in diabetes risk, as does estrogen supplementation.<ref name="ajmga1" /> The association between Turner syndrome and other diseases, such as cancer, is unclear. Overall, women with Turner syndrome do not appear more likely to develop cancer than women with 46,XX karyotypes, but the specific pattern of what cancers are highest risk seems to differ. The risk of [[breast cancer]] appears lower in Turner's than in control women, perhaps due to decreased levels of estrogen. [[Neuroblastoma]], a cancer of infancy and early childhood, has been reported in girls with Turner syndrome. Tumours of the nervous system, both the [[central nervous system]] and the [[peripheral nervous system]], are overrepresented amongst cancers in Turner syndrome.<ref name="ajmga1" /> Furthermore, about 5.5% of Turner syndrome individuals have an extra, abnormal [[small supernumerary marker chromosome]] (sSMC) which consists of part of a Y chromosome. This partial Y chromosome-bearing sSMC may include the ''[[SRY]]'' gene located on the p arm of the Y chromosome at band 11.2 (notated as Yp11.2). This gene encodes the [[testis-determining factor]] protein (also known as sex-determining region Y protein). Turner syndrome individuals with this ''SRY'' gene-containing sSMC have a very real increased risk of developing [[gonadal tissue neoplasm]]s such as [[gonadoblastoma]]s and [[in situ]] [[seminoma]]s (also termed [[dysgerminoma]]s to indicate that this tumor has the pathology of the testicular tumor, seminoma, but develops in ovaries<ref name="pmid33961893">{{cite journal | vauthors = Morin JP, Saltzman AF | title = Gonadoblastoma in Turner Syndrome: A Surprise in a Streak | journal = Urology | volume = 154 | issue = | pages = 278–280 | date = August 2021 | pmid = 33961893 | doi = 10.1016/j.urology.2021.02.050 | s2cid = 233997606 }}</ref>). In one study, 34 Turner syndrome girls without overt evidence of these tumors were found at [[Preventive healthcare|preventative surgery]] to have a gonadoblastoma (7 cases), dysgerminoma (1 case), or non-specific ''in situ'' gonadal neoplasm (1 case).<ref name="pmid31465855">{{cite journal | vauthors = Dabrowski E, Johnson EK, Patel V, Hsu Y, Davis S, Goetsch AL, Habiby R, Brickman WJ, Finlayson C | title = Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy | journal = Journal of Pediatric and Adolescent Gynecology | volume = 33 | issue = 1 | pages = 10–14 | date = February 2020 | pmid = 31465855 | pmc = 7413626 | doi = 10.1016/j.jpag.2019.08.011 }}</ref> Turner syndrome girls with this sSMC otherwise have typical features of the Turner syndrome except for a minority who also have [[hirsutism]] and/or [[clitoral enlargement]].<ref name="pmid33870841">{{cite journal | vauthors = Chen J, Guo M, Luo M, Deng S, Tian Q | title = Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome | journal = Gynecological Endocrinology | volume = 37 | issue = 8 | pages = 730–734 | date = August 2021 | pmid = 33870841 | doi = 10.1080/09513590.2021.1911992 | s2cid = 233298107 }}</ref> Surgical removal of the [[gonads]] has been recommended to remove the threat of developing these sSMC-associated neoplasms.<ref name="pmid33870841"/><ref name="pmid21930534">{{cite journal | vauthors = Barros BA, Moraes SG, Coeli FB, Assumpção JG, De Mello MP, Maciel-Guerra AT, Carvalho AB, Viguetti-Campos N, Vieira TA, Amstalden EM, Andrade JG, Esquiaveto-Aun AM, Marques-de-Faria AP, D'Souza-Li LF, Lemos-Marini SH, Guerra G | title = OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences | journal = Human Reproduction | volume = 26 | issue = 12 | pages = 3450–3455 | date = December 2011 | pmid = 21930534 | doi = 10.1093/humrep/der310 | doi-access = free }}</ref><ref name="pmid11768396">{{cite journal | vauthors = Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A | title = Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child | journal = Journal of Medical Genetics | volume = 38 | issue = 12 | pages = 885–888 | date = December 2001 | pmid = 11768396 | pmc = 1734780 | doi = 10.1136/jmg.38.12.885 }}</ref> Turner syndrome individuals with an sSMC that lacks the ''SRY'' gene are not at an increased risk of developing these cancers.<ref name="pmid33870841"/><ref name="pmid31465855"/>
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