Turner syndrome laboratory findings: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Turner syndrome}} | {{Turner syndrome}} | ||
{{CMG}}; {{AE}}{{Akash}} | |||
==Overview== | |||
Laboratory investigations serve as important screening tools for [[thyroid]] dysfunction, [[renal]] dysfunction, [[liver]] dysfunction, new onset [[diabetes mellitus]],[[vitamin D deficiency]] and [[ovarian reserve]]. | |||
==Lab Findings== | |||
#Serum [[gonadotrophins]] and [[anti Mullerian hormone]]- ovarian reserve. | |||
#Renal function tests – [[renal failure]] secondary to structural abnormalities.<ref name="pmid20081420">{{cite journal| author=Wolff DJ, Van Dyke DL, Powell CM, Working Group of the ACMG Laboratory Quality Assurance Committee| title=Laboratory guideline for Turner syndrome. | journal=Genet Med | year= 2010 | volume= 12 | issue= 1 | pages= 52-5 | pmid=20081420 | doi=10.1097/GIM.0b013e3181c684b2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20081420 }} </ref> | |||
#Thyroid function tests – [[thyroiditis]], [[hypothyroidism]], [[hyperthyroidism]] | |||
#Liver function tests – [[focal nodular hyperplasia]] | |||
#Serum IgA and IgA anti [[endomysium]] and IgA [[antigliadin]] antibodies – [[Celiac disease]] | |||
#Lipid profile – [[hyperlipidemia]] | |||
#Oral glucose tolerance test and serum [[glycosylated hemoglobin]] – for [[type 2 diabetes mellitus]]. | |||
#Serum 25-hydroxyvitamin D- Vitamin D deficiency.<ref name="pmid29344338">{{cite journal| author=Shankar RK, Backeljauw PF| title=Current best practice in the management of Turner syndrome. | journal=Ther Adv Endocrinol Metab | year= 2018 | volume= 9 | issue= 1 | pages= 33-40 | pmid=29344338 | doi=10.1177/2042018817746291 | pmc=5761955 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29344338 }} </ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{WH}} | |||
{{WS}} | |||
[[Category:Medicine]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
Latest revision as of 12:16, 15 September 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]
Overview
Laboratory investigations serve as important screening tools for thyroid dysfunction, renal dysfunction, liver dysfunction, new onset diabetes mellitus,vitamin D deficiency and ovarian reserve.
Lab Findings
- Serum gonadotrophins and anti Mullerian hormone- ovarian reserve.
- Renal function tests – renal failure secondary to structural abnormalities.[1]
- Thyroid function tests – thyroiditis, hypothyroidism, hyperthyroidism
- Liver function tests – focal nodular hyperplasia
- Serum IgA and IgA anti endomysium and IgA antigliadin antibodies – Celiac disease
- Lipid profile – hyperlipidemia
- Oral glucose tolerance test and serum glycosylated hemoglobin – for type 2 diabetes mellitus.
- Serum 25-hydroxyvitamin D- Vitamin D deficiency.[2]
References
- ↑ Wolff DJ, Van Dyke DL, Powell CM, Working Group of the ACMG Laboratory Quality Assurance Committee (2010). "Laboratory guideline for Turner syndrome". Genet Med. 12 (1): 52–5. doi:10.1097/GIM.0b013e3181c684b2. PMID 20081420.
- ↑ Shankar RK, Backeljauw PF (2018). "Current best practice in the management of Turner syndrome". Ther Adv Endocrinol Metab. 9 (1): 33–40. doi:10.1177/2042018817746291. PMC 5761955. PMID 29344338.