Turner syndrome laboratory findings
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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.