Literature DB >> 20011554

Genetic issues in the care of the adolescent patient.

Lea Velsher1.   

Abstract

Genetic issues are important in the primary care of adolescents. A genetic diagnosis may not be made until adolescence, when the teenager presents with the first signs or symptoms of the condition. The physician's knowledge of the natural history of a genetic disease will aid in the anticipatory guidance for teens and their parents. The physician may be called upon to advise the patient regarding hormone therapy or contraception. The paediatrician may initiate topics such as sexuality and sex education for the developmentally delayed patient. The paediatrician is also the advocate for the teenager, who must gain independence from the family in medical as well as other aspects of life. This article examines some of these issues, using cases to illustrate the genetic problems and approaches in the care of the teenaged patient.

Entities:  

Keywords:  Adolescence; Anticipatory guidance; Developmental delay; Down syndrome; Genetics; Hemophilia A; Klinefelter syndrome; Neurofibromatosis type 1; Sexuality; Turner syndrome

Year:  2003        PMID: 20011554      PMCID: PMC2791075          DOI: 10.1093/pch/8.1.36

Source DB:  PubMed          Journal:  Paediatr Child Health        ISSN: 1205-7088            Impact factor:   2.253


  17 in total

Review 1.  Recommendations for the diagnosis and management of Turner syndrome.

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Journal:  J Clin Endocrinol Metab       Date:  2001-07       Impact factor: 5.958

Review 2.  Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.

Authors:  David R Lynch; Jennifer M Farmer; Laura J Balcer; Robert B Wilson
Journal:  Arch Neurol       Date:  2002-05

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Authors:  H Goldstein
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  1988-04       Impact factor: 2.435

Review 4.  Kallmann syndrome. From genetics to neurobiology.

Authors:  E I Rugarli; A Ballabio
Journal:  JAMA       Date:  1993-12-08       Impact factor: 56.272

Review 5.  Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH.

Authors:  P Burman; E M Ritzén; A C Lindgren
Journal:  Endocr Rev       Date:  2001-12       Impact factor: 19.871

Review 6.  The spinocerebellar ataxias.

Authors:  S Gilman
Journal:  Clin Neuropharmacol       Date:  2000 Nov-Dec       Impact factor: 1.592

Review 7.  Turner's syndrome.

Authors:  M B Ranke; P Saenger
Journal:  Lancet       Date:  2001-07-28       Impact factor: 79.321

8.  Cardiovascular malformations and complications in Turner syndrome.

Authors:  V P Sybert
Journal:  Pediatrics       Date:  1998-01       Impact factor: 7.124

Review 9.  Androgen insensitivity.

Authors:  B Gottlieb; L Pinsky; L K Beitel; M Trifiro
Journal:  Am J Med Genet       Date:  1999-12-29

10.  Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors.

Authors: 
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

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