New Issues in the Diagnosis and Management of Turner syndrome

被引:29
作者
Bondy, CA [1 ]
机构
[1] NICHHD, Dev Endocrinol Branch, NIH, Bethesda, MD 20892 USA
关键词
X-chromosome; congenital heart defect; prenatal diagnosis; ovarian failure; short stature;
D O I
10.1007/s11154-005-6185-z
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
This review has tried to update our view of TS, highlighting the less severe phenotype we are seeing today, aiming to motivate clinicians to scrutinize normal looking short girls more closely, and to provide more relevant information for those counseling prospective parents on the implications of a TS karyotype during prenatal screening. New approaches to cardiac evaluation, including imaging with MR and ECG analysis - were suggested to strengthen our ability to detect and prevent potentially life-threatening cardiac complications. The new emphasis on reproductive potential and concerns about the adequacy and safety of current HRT regimens certainly require further studies and adjustment of treatment strategies in light of new priorities and safety concerns. In the same vein, prospective studies are required to assess the outcome and safety of assisted pregnancy in TS, which, despite the warning of a potential catastrophic increase in maternal morbidity is going to become a much more common occurrence in the near future. © 2005 Springer Science + Business Media, Inc.
引用
收藏
页码:269 / 280
页数:12
相关论文
共 96 条
[1]   Turner syndrome:: Evaluation of prenatal diagnosis in 19 European registries [J].
Baena, N ;
De Vigan, C ;
Cariati, E ;
Clementi, M ;
Stoll, C ;
Caballín, MR ;
Guitart, M .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (01) :16-20
[2]   Impaired insulin secretion in the Turner metabolic syndrome [J].
Bakalov, VK ;
Cooley, MM ;
Quon, MJ ;
Luo, ML ;
Yanovski, JA ;
Nelson, LM ;
Sullivan, G ;
Bondy, CA .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (07) :3516-3520
[3]   Selective reduction in cortical bone mineral density in Turner syndrome independent of ovarian hormone deficiency [J].
Bakalov, VK ;
Axelrod, L ;
Baron, J ;
Hanton, L ;
Nelson, LM ;
Reynolds, JC ;
Hill, S ;
Troendle, J ;
Bondy, CA .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (12) :5717-5722
[4]   Bone mineral density and fractures in turner syndrome [J].
Bakalov, VK ;
Chen, ML ;
Baron, J ;
Hanton, LB ;
Reynolds, JC ;
Stratakis, CA ;
Axelrod, LE ;
Bondy, CA .
AMERICAN JOURNAL OF MEDICINE, 2003, 115 (04) :259-264
[5]   Musculoskeletal analyses of the forearm in young women with Turner syndrome: A study using peripheral quantitative computed tomography [J].
Bechtold, S ;
Rauch, F ;
Noelle, V ;
Donhauser, S ;
Neu, CM ;
Schoenau, E ;
Schwarz, HP .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (12) :5819-5823
[6]   Fertility and pregnancy outcome in Danish women with Turner syndrome [J].
Birkebaek, NH ;
Crüger, D ;
Hansen, J ;
Nielsen, J ;
Bruun-Petersen, G .
CLINICAL GENETICS, 2002, 61 (01) :35-39
[7]   Electrocardiographic safety profile and monitoring guidelines in pediatric psychopharmacology [J].
Blair, J ;
Taggart, B ;
Martin, A .
JOURNAL OF NEURAL TRANSMISSION, 2004, 111 (07) :791-815
[8]   Prevalence and clinical picture of Celiac disease in Turner syndrome [J].
Bonamico, M ;
Pasquino, AM ;
Mariani, P ;
Danesi, HM ;
Culasso, F ;
Mazzanti, L ;
Petri, A ;
Bona, G .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (12) :5495-5498
[9]  
BONDY CA, 2006, IN PRESS MEDICINE
[10]  
Cardoso G, 2004, GYNECOL ENDOCRINOL, V19, P313, DOI 10.1080/09513590400021227