Testosterone and the child (0-12 years) with Klinefelter syndrome (47XXY): A review

Acta Paediatrica, International Journal of Paediatrics

Volumn 100, Issue 6, 2011, Pages 846-850

  Fennoy, Ilene ^a  

^a NewYork Presbyterian Hospital   (United States)

Author keywords

Child; Infant; Klinefelter syndrome; Testosterone

Indexed keywords

ANDROSTANOLONE; STEROID 5ALPHA REDUCTASE; TESTOSTERONE;

ANDROGEN DEFICIENCY; ANDROGEN THERAPY; BODY COMPOSITION; BONE DENSITY; COGNITION; CRYPTORCHISM; DATA BASE; HORMONE SYNTHESIS; HUMAN; INFANCY; KLINEFELTER SYNDROME; LEYDIG CELL; MICROPENIS; MOTOR DEVELOPMENT; PREPUBERTY; PRIORITY JOURNAL; REVIEW; SERTOLI CELL; SEX DIFFERENTIATION; SUBCUTANEOUS FAT; SUBCUTANEOUS FAT DISORDER; TESTIS FUNCTION; THERAPY EFFECT; TREATMENT OUTCOME; X CHROMOSOME;

ANDROGENS; CHILD; EVIDENCE-BASED MEDICINE; HORMONE REPLACEMENT THERAPY; HUMANS; INFANT; KLINEFELTER SYNDROME; MALE; PENIS; RISK ASSESSMENT; TESTOSTERONE; TREATMENT OUTCOME;

EID: 79955515283     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2011.02184.x     Document Type: Review

References (44)

1. Hughes IA,. Minireview: sex differentiation. Endocrinology 2001; 142: 3281-7. (Pubitemid 32681730)
2. Arnold AP,. The organizational-activational hypothesis as the foundation for a unified theory of sexual differentiation of all mammalian tissues. Horm Behav 2009; 55: 570-8.
3. Wikstrom AM, Painter JN, Raivio T, Aittomaki K, Dunkel L,. Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome. Clin Endocrinol (Oxf) 2006; 65: 92-7.
4. Josso N, Picard JY, Tran D,. The anti-Mullerian hormone. Birth Defects Orig Artic Ser 1977; 13: 59-84.
5. Wilson JD, Griffin JE, George FW,. Sexual differentiation: early hormone synthesis and action. Biol Reprod 1980; 22: 9-17. (Pubitemid 10123567)
6. Ferlin A, Zuccarello D, Zuccarello B, Chirico MR, Zanon GF, Foresta C,. Genetic alterations associated with cryptorchidism. JAMA 2008; 300: 2271-6.
7. Burstein S, Grumbach M, Kaplan S,. Early determination of androgen-responsiveness is important in the management of microphallus. Lancet 1979; 314: 983-6. (Pubitemid 10204618)
8. Ben-Galim E, Hillman RE, Weldon VV,. Topically applied testosterone and phallic growth: its effect in male children with hypopituitarism and microphallus. Am J Dis Child 1980; 134: 296-8. (Pubitemid 10133749)
9. Bin-Abbas B, Conte FA, Grumbach MM, Kaplan SL,. Congenital hypogonadotropic hypogonadism and micropenis: effect of testosterone treatment on adult penile size-why sex reversal is not indicated. J Pediatr 1999; 134: 579-83. (Pubitemid 30180597)
10. Boas M, Boisen KA, Virtanen HE, Kaleva M, Suomi A-M, Schmidt IM, et al., Postnatal penile length and growth rate correlate to serum testosterone levels: a longitudinal study of 1962 normal boys. Eur J Endocrinol 2006; 154: 125-9. (Pubitemid 43250746)
11. Main KM, Schmidt IM, Skakkebak NE,. A possible role for reproductive hormones in newborn boys: progressive hypogonadism without the postnatal testosterone peak. J Clin Endocrinol Metab 2000; 85: 4905-7. (Pubitemid 32157684)
12. Ross JL, Samango-Sprouse C, Lahlou N, Kowal K, Elder FF, Zinn A,. Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome. Horm Res 2005; 64: 39-45. (Pubitemid 41207077)
13. Bastida MG, Rey RA, Bergada I, Bedecarras P, Andreone L, del Rey G, et al., Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome. Clin Endocrinol (Oxf) 2007; 67: 863-70. (Pubitemid 350135129)
14. Ratcliffe SG,. The sexual development of boys with the chromosome constitution 47,XXY (Klinefelter's syndrome). Clin Endocrinol Metab 1982; 11: 703-16. (Pubitemid 13249800)
15. Battin J, Malpuech G, Nivelon JL, Garandeau P, Freycon F, Sultan Ch, et al., [Klinefelter syndrome in 1993. Results of a multicenter study on 58 cases and review of the literature]. Ann Pediatr (Paris) 1993; 40: 432-7. (Pubitemid 23276172)
16. Sasagawa I, Yamaguchi O, Shiraiwa Y, Nakada T,. Klinefelter's syndrome associated with unilateral cryptorchidism in childhood. Urol Int 1991; 47: 178-80.
17. 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: 716-22.
18. Robinson A, Puck MH, Pennington BF, Borelli JB, Hudson M,. Abnormalities of the sex chromosomes: a prospective study on randomly identified newborns. In:, Robinson A, Lubs HA, Bergsma D, editors. Sex chromosome aneuploidy: prospective studies in children. New York: Alan Liss, 1979: 203-41. (Pubitemid 9165510)
19. Robinson A, Bender B, Borelli J, Puck M, Salbenblatt J, Webber ML,. Sex chromosomal abnormalities (SCA): a prospective and longitudinal study of newborns identified in an unbiased manner. Birth Defects Orig Artic Ser 1982; 18: 7-39. (Pubitemid 13155334)
20. Ratcliffe SG, Murray L, Teague P,. Edinburgh study of growth and development of children with sex chromosome abnormalities. III. Birth Defects Orig Artic Ser 1986; 22: 73-118.
21. Lahlou N, Fennoy I, Carel JC, Roger M,. Inhibin B and anti-mullerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome. J Clin Endocrinol Metab 2004; 89: 1864-8. (Pubitemid 38507946)
22. Aksglaede L, Petersen JH, Main KM, Skakkebaek NE, Juul A,. High normal testosterone levels in infants with non-mosaic Klinefelter's syndrome. Eur J Endocrinol 2007; 157: 345-50. (Pubitemid 47603540)
23. Forest MG,. Hypophyso-gonadal function in humans during the first year of life. 1. Evidence for testicular activity in early infancy. J Clin Investig 1974; 53: 819-28.
24. Forest MG, De Peretti E, Bertrand J,. Hypothalamic-pituitary-gonadal relationships in man from birth to puberty. Clin Endocrinol 1976; 5: 551-69.
25. Winter JSD, Hughes IA, Reyes FI, Faiman C,. Pituitary-gonadal relations in infancy: 2. Patterns of serum gonadal steroid concentrations in man from birth to two years of age. J Clin Endocrinol Metab 1976; 42: 679-86.
26. Tomlinson C, Macintyre H, Dorrian CA, Ahmed SF, Wallace AM,. Testosterone measurements in early infancy. Arch Dis Child Fetal Neonatal Ed 2004; 89: F558-9. (Pubitemid 39472332)
27. Chada M, Prusa R, Bronsky J, Kotaska K, Sidlova K, Pechova M, et al., Inhibin B, follicle stimulating hormone, luteinizing hormone and testosterone during childhood and puberty in males: changes in serum concentrations in relation to age and stage of puberty. Physiol Res 2003; 52: 45-51. (Pubitemid 36356259)
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: 82-6. (Pubitemid 15187480)
29. Robinson A, Bender BG, Borelli JB, Puck MH, Salbenblatt JA, Winter JS,. Sex chromosomal aneuploidy: prospective and longitudinal studies. Birth Defects Orig Artic Ser 1986; 22: 23-71. (Pubitemid 17087077)
30. Anderson RA, Wu FC,. Comparison between testosterone enanthate-induced azoospermia and oligozoospermia in a male contraceptive study. II. Pharmacokinetics and pharmacodynamics of once weekly administration of testosterone enanthate. J Clin Endocrinol Metab 1996; 81: 896-901.
31. Contraceptive efficacy of testosterone-induced azoospermia in normal men. World Health Organization Task Force on methods for the regulation of male fertility. Lancet 1990; 336: 955-9.
32. Aksglaede L, Wikstrom AM, Meyts ER-D, Dunkel L, Skakkebaek NE, Juul A,. Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Hum Reprod Update 2006; 12: 39-48. (Pubitemid 43013745)
33. Raman JD, Schlegel PN,. Aromatase inhibitors for male infertility. J Urol 2002; 167: 624-9. (Pubitemid 34074542)
34. Ramasamy R, Ricci JA, Palermo GD, Gosden LV, Rosenwaks Z, Schlegel PN,. Successful fertility treatment for Klinefelter's syndrome. J Urol 2009; 182: 1108-13.
35. Carson DJ, Okuno A, Lee PA, Stetten G, Didolkar SM, Migeon CJ,. Amniotic fluid steroid levels: fetuses with adrenal hyperplasia, 46,XXY fetuses, and normal fetuses. Am J Dis Child 1982; 136: 218-22. (Pubitemid 12183534)
36. Resnick SM, Berenbaum SA, Gottesman II, Bouchard J,. Early hormonal influences on cognitive functioning in congenital adrenal hyperplasia. Dev Psychol 1986; 22: 191-8.
37. Patwardhan AJ, Brown WE, Bender BG, Linden MG, Eliez S, Reiss AL,. Reduced size of the amygdala in individuals with 47, XXY and 47,XXX karyotypes. Am J Med Genet 2002; 114: 93-8.
38. Giedd JN, Clasen LS, Lenroot R, Greenstein D, Wallace GL, Ordaz S, et al., Puberty-related influences on brain development. Mol Cell Endocrinol 2006; 255: 154-62. (Pubitemid 44041745)
39. Ross JL, Roeltgen DP, Stefanatos G, Benecke R, Zeger MP, Kusner H, et al., Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet A 2008; 146A: 708-19. (Pubitemid 351354146)
40. Khaw KT, Barrett-Connor E,. Lower endogenous androgens predict central adiposity in men. Ann Epidemiol 1992; 2: 675-82.
41. Seidell JC, Bjorntorp P, Sjostrom L, Kvist H, Sannerstedt R,. Visceral fat accumulation in men is positively associated with insulin, glucose, and C-peptide levels, but negatively with testosterone levels. Metabolism 1990; 39: 897-901. (Pubitemid 20293933)
42. Blouin K, Boivin A, Tchernof A,. Androgens and body fat distribution. J Steroid Biochem Mol Biol 2008; 108: 272-80. (Pubitemid 351179628)
43. Ratcliffe SG, Butler GE, Jones M,. Edinburgh study of growth and development of children with sex chromosome abnormalities. IV. Birth Defects Orig Artic Ser 1990; 26: 1-44.
44. 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: 30-4.