Literature DB >> 26823086

Anatomical and clinical aspects of Klinefelter's syndrome.

Rebecca J Bird1, Bradley J Hurren1.   

Abstract

Klinefelter's syndrome, the most common sex disorder associated with chromosomal aberrations, is characterized by a plethora of clinical features. Parameters for diagnosis of the syndrome are constantly expanding as new anatomical and hormonal abnormalities are noted, yet Klinefelter's remains underdiagnosed and underreported. This review outlines the key anatomical characteristics associated with the syndrome, which are currently used for clinical diagnosis, or may provide means for improving diagnosis in the future. Clin. Anat. 29:606-619, 2016.
© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Entities:  

Keywords:  Klinefelter's syndrome; anatomy; gonads; polyploidy; sex characteristics; sex chromosome disorders

Mesh:

Year:  2016        PMID: 26823086     DOI: 10.1002/ca.22695

Source DB:  PubMed          Journal:  Clin Anat        ISSN: 0897-3806            Impact factor:   2.414


  6 in total

1.  Obesity and Hyperglycemia in Korean Men with Klinefelter Syndrome: The Korean Endocrine Society Registry.

Authors:  Seung Jin Han; Kyung Soo Kim; Wonjin Kim; Jung Hee Kim; Yong Ho Lee; Ji Sun Nam; Ji A Seo; Bu Kyung Kim; Jihyun Lee; Jin Ook Chung; Min Hee Kim; Tae Seo Sohn; Han Seok Choi; Seong Bin Hong; Yoon Sok Chung
Journal:  Endocrinol Metab (Seoul)       Date:  2016-12

Review 2.  Genes that escape from X-chromosome inactivation: Potential contributors to Klinefelter syndrome.

Authors:  Maria Jose Navarro-Cobos; Bradley P Balaton; Carolyn J Brown
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-05-22       Impact factor: 3.908

3.  Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel.

Authors:  Xiangqun Fan; Hailong Huang; Xiyao Lin; Huili Xue; Meiying Cai; Na Lin; Liangpu Xu
Journal:  Risk Manag Healthc Policy       Date:  2021-04-09

4.  Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?

Authors:  L Aliberti; I Gagliardi; S Bigoni; S Lupo; S Caracciolo; A Ferlini; A M Isidori; M C Zatelli; M R Ambrosio
Journal:  J Community Genet       Date:  2022-03-05

Review 5.  Androgens and the developing hippocampus.

Authors:  Katherine E Kight; Margaret M McCarthy
Journal:  Biol Sex Differ       Date:  2020-06-01       Impact factor: 5.027

6.  Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.

Authors:  Jean Tori Pantel; Nurulhuda Hajjir; Magdalena Danyel; Jonas Elsner; Angela Teresa Abad-Perez; Peter Hansen; Stefan Mundlos; Malte Spielmann; Denise Horn; Claus-Eric Ott; Martin Atta Mensah
Journal:  J Med Internet Res       Date:  2020-10-22       Impact factor: 5.428

  6 in total

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