Screening of Turner Syndrome with Novel Auxological Criteria Facilitates Early Diagnosis
نویسندگان
چکیده
منابع مشابه
Spontaneous puberty in girls with early diagnosis of Turner syndrome.
OBJECTIVE To verify if the frequency of spontaneous pubertal development among girls with Turner syndrome (TS) diagnosed in infancy and childhood is greater than that of patients diagnosed later. SUBJECTS AND METHODS Thirty three girls aged < 10 years at the time of diagnosis were evaluated regarding pubertal development. The frequency of spontaneous puberty was compared with that of girls ag...
متن کاملProposal of New Auxological Standards for Japanese Girls with Turner Syndrome
We recently published new reference growth charts for Japanese girls with Turner syndrome (TS) based on the cross-sectional data of 1,447 subjects beyond the secular trend of growth in Japan. This study was undertaken for their validation and, if necessary, modification before general application. For validation, 24 subjects who had data both at younger (≤5 yr) and older ages (≥13 yr) were used...
متن کاملValidation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome
We recently published growth references for Japanese individuals with Noonan syndrome (NS). However, it is uncertain whether these references can be used to evaluate the longitudinal growth of children with NS. In addition, these charts did not include detailed values suitable for clinical practice, and they did not include weight-for-height (WFH) charts. In the present study, we validated the ...
متن کاملResponse to growth hormone treatment in Prader-Willi syndrome: auxological criteria versus genetic diagnosis.
AIM The Australian Prader-Willi Syndrome (PWS) database was established to monitor the efficacy and safety of growth hormone (GH) treatment in PWS. This study aims to compare response to GH based on eligibility criteria. METHODS Comparative study: 72 children received GH on the basis of short stature or evidence of GH deficiency (pre-2009: PWS-SS) and 94 on a genetic diagnosis (post-2009: PWS...
متن کاملTurner syndrome: diagnosis and management.
Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, bicuspid aortic valve) and may have progressive aortic root dilatation or dissection. These patients also are at risk...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2012
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2012-1739