Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: Amniocentesis versus clinical signs

Hormone Research

Volumn 72, Issue 2, 2009, Pages 98-105

  Girardin, Céline M ^a   Lemyre, Emmanuelle ^b   Alos, Nathalie ^a   Deal, Cheri ^a   Huot, Céline ^a   Van Vliet, Guy ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

Amniocentesis; Androgen; Development; Genetic counselling; Hypergonadotropic hypogonadism; Klinefelter syndrome; Puberty

Indexed keywords

ANDROGEN; FOLLITROPIN; LUTEINIZING HORMONE; TESTOSTERONE;

ADOLESCENT; ADULT; AMNIOCENTESIS; ANTHROPOMETRIC PARAMETERS; ARTICLE; BEHAVIOR DISORDER; BODY HEIGHT; BODY WEIGHT; BONE DENSITY; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; CRYPTORCHISM; EVIDENCE BASED PRACTICE; FOLLITROPIN BLOOD LEVEL; GENETIC COUNSELING; GYNECOMASTIA; HORMONE SUBSTITUTION; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; LEARNING DISORDER; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MEDICAL RECORD REVIEW; PHENOTYPE; PHYSICAL DEVELOPMENT; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; PUBERTY; SEXUAL MATURATION; SPEECH DISORDER; SPEECH THERAPY; TESTIS SIZE; TESTOSTERONE BLOOD LEVEL;

ADOLESCENT; CHILD; GENETIC COUNSELING; GYNECOMASTIA; HUMANS; KLINEFELTER SYNDROME; MALE; PUBERTY; REGISTRIES; RETROSPECTIVE STUDIES; TESTOSTERONE;

EID: 69249141907     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000232162     Document Type: Article

References (34)

1. Klinefelter HF, Reifenstein EC, Albright F: Syndrome characterized by gynecomastia, aspermatogenesis without a Leydigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol Metab 1942; 2: 615-627.
2. Jacobs PA, Strong JA: A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 1959; 183: 302-303.
3. Bojesen A, Juul S, Gravholt CH: Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003; 88: 622-626. (Pubitemid 36207801)
4. Varrela J: Effects of X chromosome on size and shape of body: an anthropometric investigation in 47,XXY males. Am J Phys Anthropol 1984; 64: 233-242.
5. Aksglaede L, Skakkebaek NE, Juul A: Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes. J Clin Endocrinol Metab 2008; 93: 169-176.
6. Zeger MP, Zinn AR, Lahlou N, Ramos P, Kowal K, Samango-Sprouse C, et al: Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. J Pediatr 2008; 152: 716-722.
7. Ratcliffe S: Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 1999; 80: 192-195. (Pubitemid 29119739)
8. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E: Klinefelter's syndrome. Lancet 2004; 364: 273-283.
9. Abramsky L, Chapple J: 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn 1997; 17: 363-368. (Pubitemid 27192961)
10. Marshall WA, Tanner JM: Variations in the pattern of pubertal changes in boys. Arch Dis Child 1970; 45: 13-23.
11. Prader A: Testicular size: assessment and clinical importance. Triangle 1966; 7: 240-243.
12. Marshall WA, Tanner JM: Puberty in Human Growth, a Comprehensive Treatise, ed 2. New York, Plenum Press, 1986.
13. Pakarinen A, Hammond GL, Vihko R: Serum pregnenolone, progesterone, 17alpha-hydroxyprogesterone, androstenedione, testosterone, 5alpha- dihydrotestosterone and androsterone during puberty in boys. Clin Endocrinol (Oxf) 1979; 11: 465-474. (Pubitemid 10175102)
14. Greulich WW, Pyle SI: Radiographic Atlas of Skeletal Development of the Hand and Wrist, ed 2. Stanford, Stanford University Press, 1959.
15. Tanner JM, Goldstein H, Whitehouse RH: Standards for children's height at ages 2-9 years allowing for heights of parents. Arch Dis Child 1970; 45: 755-762.
16. Luo ZC, Albertsson-Wikland K, Karlberg J: Target height as predicted by parental heights in a population-based study. Pediatr Res 1998; 44: 563-571. (Pubitemid 28447344)
17. Kuczmarski RJ, Ogden CL, Grummer-Strawn LM, Flegal KM, Guo SS, Wei R, et al: CDC growth charts: United States. Adv Data 2000: 1-27.
18. Wilkins L: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence, ed 3. Springfield, Thomas, 1965.
19. Berkowitz GS, Lapinski RH, Dolgin SE, Gazella JG, Bodian CA, Holzman IR: Prevalence and natural history of cryptorchidism. Pediatrics 1993; 92: 44-49.
20. Larsen PR, Kronenberg HM, Melmed S, Polonsky KS: Williams Textbook of Endocrinology, ed 10. Philadelphia, Saunders, 2003.
21. Ministère de ĺducation, du loisir et du sport: Indicateurs de ĺducation 2007. Québec, 2007. www.meq.gouv.qc.ca.
22. Stewart DA, Netley CT, Park E: Summary of clinical findings of children with 47,XXY, 47,XYY, and 47,XXX karyotypes. Birth Defects Orig Artic Ser 1982; 18: 1-5. (Pubitemid 13155333)
23. Schibler D, Brook CG, Kind HP, Zachmann M, Prader A: Growth and body proportions in 54 boys and men with Klinefelter's syndrome. Helv Paediatr Acta 1974; 29: 325-333.
24. Graner J, Buchanan B, Abraira C: Ratio of arm span to height not usually increased in Klinefelter's syndrome. N Engl J Med 1982; 306: 1490-1491.
25. Brandes BM, Mesrobian HG: Evaluation and management of genital anomalies in two patients with Klinefelter syndrome and review of literature. Urology 2005; 65: 976-979.
26. Bojesen A, Juul S, Birkebaek NH, Gravholt CH: Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab 2006; 91: 1254-1260.
27. Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA: Genital anomalies in Klinefelter's syndrome. Horm Res 2007; 68: 150-155.
28. Salbenblatt JA, Bender BG, Puck MH, Robinson A, Faiman C, Winter JS: Pituitary-gonadal function in Klinefelter syndrome before and during puberty. Pediatr Res 1985; 19: 82-86.
29. Wikstrom AM, Dunkel L, Wickman S, Norjavaara E, Ankarberg-Lindgren C, Raivio T: Are adolescent boys with Klinefelter syndrome androgen deficient? A longitudinal study of Finnish 47,XXY boys. Pediatr Res 2006; 59: 854-859. (Pubitemid 44297642)
30. Aksglaede L, Molgaard C, Skakkebaek NE, Juul A: Normal bone mineral content but unfavourable muscle/fat ratio in Klinefelter syndrome. Arch Dis Child 2008; 93: 30-34.
31. Graham JM Jr, Bashir AS, Stark RE, Silbert A, Walzer S: Oral and written language abilities of XXY boys: implications for anticipatory guidance. Pediatrics 1988; 81: 795-806. (Pubitemid 18153040)
32. Ross JL, Roeltgen DP, Stefanatos G, Benecke R, Zeger MP, Kushner H, et al: Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet A 2008; 146: 708-719. (Pubitemid 351354146)
33. Bender BG, Harmon RJ, Linden MG, Robinson A: Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities. Pediatrics 1995; 96: 302-308.
34. Nielsen J, Pelsen B: Follow-up 20 years later of 34 Klinefelter males with karyotype 47,XXY and 16 hypogonadal males with karyotype 46,XY. Hum Genet 1987; 77: 188-192. (Pubitemid 17160067)