Diagnostic and therapeutic considerations in Turner syndrome

Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endo...

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Main Author: Seung Yang
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2017-12-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
Online Access:http://e-apem.org/upload/pdf/apem-2017-22-4-226.pdf
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author Seung Yang
author_facet Seung Yang
author_sort Seung Yang
collection DOAJ
description Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endocrine milieu. However, many complicated and controversial issues with such treatment remain. Therefore, lifetime observation, long-term studies of health problems, and optimal therapeutic plans are needed for women with Turner syndrome. In this review, we discuss several diagnostic trials using recently developed genetic techniques and studies of physiological hormone replacement treatment over the last 5 years.
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spelling doaj.art-b831ffe0e3e240a0ba913571e0c7d1d32022-12-22T03:37:12ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922017-12-0122422623010.6065/apem.2017.22.4.226708Diagnostic and therapeutic considerations in Turner syndromeSeung YangNewly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endocrine milieu. However, many complicated and controversial issues with such treatment remain. Therefore, lifetime observation, long-term studies of health problems, and optimal therapeutic plans are needed for women with Turner syndrome. In this review, we discuss several diagnostic trials using recently developed genetic techniques and studies of physiological hormone replacement treatment over the last 5 years.http://e-apem.org/upload/pdf/apem-2017-22-4-226.pdfTurner syndromeDiagnosisHormone replacement therapy
spellingShingle Seung Yang
Diagnostic and therapeutic considerations in Turner syndrome
Annals of Pediatric Endocrinology & Metabolism
Turner syndrome
Diagnosis
Hormone replacement therapy
title Diagnostic and therapeutic considerations in Turner syndrome
title_full Diagnostic and therapeutic considerations in Turner syndrome
title_fullStr Diagnostic and therapeutic considerations in Turner syndrome
title_full_unstemmed Diagnostic and therapeutic considerations in Turner syndrome
title_short Diagnostic and therapeutic considerations in Turner syndrome
title_sort diagnostic and therapeutic considerations in turner syndrome
topic Turner syndrome
Diagnosis
Hormone replacement therapy
url http://e-apem.org/upload/pdf/apem-2017-22-4-226.pdf
work_keys_str_mv AT seungyang diagnosticandtherapeuticconsiderationsinturnersyndrome