Male patients with partial androgen insensitivity syndrome: A longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia

Archives of Disease in Childhood

Volumn 97, Issue 5, 2012, Pages 403-409

  Hellmann, Philip ^a   Christiansen, Peter ^a   Johannsen, Trine Holm ^a   Main, Katharina M ^a   Duno, Morten ^a   Juul, Anders ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; ESTRADIOL; FOLLITROPIN; INHIBIN B; LUTEINIZING HORMONE; SEX HORMONE BINDING GLOBULIN; TESTOSTERONE; TESTOSTERONE DERIVATIVE;

ADOLESCENT; ADULT; ADULTHOOD; ANDROGEN INSENSITIVITY SYNDROME; ANDROGEN THERAPY; ARTICLE; CHILD; CLINICAL EVALUATION; CONTROLLED STUDY; ESTRADIOL BLOOD LEVEL; FEMALE; FOLLITROPIN BLOOD LEVEL; FOLLOW UP; GONAD FUNCTION; GYNECOMASTIA; HUMAN; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PSYCHOSEXUAL DEVELOPMENT; RETROSPECTIVE STUDY; SCHOOL CHILD; TERTIARY HEALTH CARE; TESTOSTERONE BLOOD LEVEL;

ADOLESCENT; ADULT; ANDROGEN-INSENSITIVITY SYNDROME; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; ESTRADIOL; FOLLICLE STIMULATING HORMONE; FOLLOW-UP STUDIES; GONADAL STEROID HORMONES; GROWTH DISORDERS; GYNECOMASTIA; HUMANS; INFANT; INFANT, NEWBORN; LUTEINIZING HORMONE; MALE; MUTATION; PHENOTYPE; RECEPTORS, ANDROGEN; RETROSPECTIVE STUDIES; SEX HORMONE-BINDING GLOBULIN; TESTOSTERONE; YOUNG ADULT;

EID: 84860331374     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/archdischild-2011-300584     Document Type: Article

References (32)

1. Brown CJ, Goss SJ, Lubahn DB, et al. Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am J Hum Genet 1989;44:264-9. (Pubitemid 19045022)
2. Lubahn DB, Joseph DR, Sullivan PM, et al. Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science 1988;240:327-30.
3. Müller J, Skakkebaek NE. Testicular carcinoma in situ in children with the androgen insensitivity (testicular feminisation) syndrome. Br Med J (Clin Res Ed) 1984;288:1419-20. (Pubitemid 14088439)
4. Morris JM. The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 1953;65:1192-211.
5. Reifenstein EC Jr. Hereditary familial hypogonadism. Proc Am Fed Clin Res 1947;3:86.
6. Ahmed SF, Cheng A, Dovey L, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab 2000;85:658-65. (Pubitemid 32273650)
7. Biro FM, Lucky AW, Huster GA, et al. Hormonal studies and physical maturation in adolescent gynecomastia. J Pediatr 1990;116:450-5. (Pubitemid 20109807)
8. Bandak M, Aksglaede L, Juul A, et al. The pituitary-Leydig cell axis before and after orchiectomy in patients with stage I testicular cancer. Eur J Cancer 2011;47:2585-91.
9. Dejager S, Bry-Gauillard H, Bruckert E, et al. A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. J Clin Endocrinol Metab 2002;87:3893-901. (Pubitemid 34879545)
10. Papadimitriou DT, Linglart A, Morel Y, et al. Puberty in subjects with complete androgen insensitivity syndrome. Horm Res 2006;65:126-31.
11. Tremblay RR, Foley TP Jr, Corvol P, et al. Plasma concentration of testosterone, dihydrotestosterone, testosterone-oestradiol binding globulin, and pituitary gonadotrophins in the syndrome of male pseudo-hermaphroditism with testicular feminization. Acta Endocrinol 1972;70:331-41.
12. Madden JD, Walsh PC, MacDonald PC, et al. Clinical and endocrinologic characterization of patients with the syndrome of incomplete testicular feminization. J Clin Endocrinol Metab 1975;41:751-60.
13. Boyar RM, Moore RJ, Rosner W, et al. Studies of gonadotropin-gonadal dynamics in patients with androgen insensitivity. J Clin Endocrinol Metab 1978;47:1116-22. (Pubitemid 9047402)
14. Giwercman A, Kledal T, Schwartz M, et al. Preserved male fertility despite decreased androgen sensitivity caused by a mutation in the ligand-binding domain of the androgen receptor gene. J Clin Endocrinol Metab 2000;85:2253-9. (Pubitemid 32269251)
15. Johannsen TH, Ripa CP, Mortensen EL, et al. Quality of life in 70 women with disorders of sex development. Eur J Endocrinol 2006;155:877-85. (Pubitemid 46040627)
16. Ahmed SH, Kwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 2000;85:120-4. (Pubitemid 30072462)
17. Andersen E, Andersen H, Hutchings B, et al. (Heights and weights in Danish school children in 1971-1972). Ugeskr Laeg 1974;136:2796-802.
18. Nysom K, Mølgaard C, Michaelsen KF, et al. (Body mass index. Reference values for 0-45-year-old Danes). Ugeskr Laeg 2002;164:5773-7. (Pubitemid 35462293)
19. Andersson AM, Juul A, Petersen JH, et al. Serum inhibin B in healthy pubertal and adolescent boys: relation to age, stage of puberty, and follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol levels. J Clin Endocrinol Metab 1997;82:3976-81. (Pubitemid 27525498)
20. Sørensen K, Aksglaede L, Petersen JH, et al. Recent changes in pubertal timing in healthy Danish boys: associations with body mass index. J Clin Endocrinol Metab 2010;95:263-70.
21. Aksglaede L, Andersson AM, Jørgensen N, et al. Primary testicular failure in Klinefelter's syndrome: the use of bivariate luteinizing hormone-testosterone reference charts. Clin Endocrinol (Oxf) 2007;66:276-81. (Pubitemid 46096149)
22. Hiort O, Sinnecker GH, Holterhus PM, et al. The clinical and molecular spectrum of androgen insensitivity syndromes. Am J Med Genet 1996;63:218-22.
23. Batch JA, Williams DM, Davies HR, et al. Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum Mol Genet 1992;1:497-503.
24. Gottlieb B, Lombroso R, Beitel LK, et al. Molecular pathology of the androgen receptor in male (in)fertility. Reprod Biomed Online 2005;10:42-8. (Pubitemid 40100653)
25. Audi L, Fernández-Cancio M, Carrascosa A, et al. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. J Clin Endocrinol Metab 2010;95:1876-88.
26. Bouvattier C, Mignot B, Lefèvre H, et al. Impaired sexual activity in male adults with partial androgen insensitivity. J Clin Endocrinol Metab 2006;91:3310-5. (Pubitemid 44402096)
27. Melo KF, Mendonca BB, Billerbeck AE, et al. Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J Clin Endocrinol Metab 2003;88:3241-50. (Pubitemid 36877500)
28. Danilovic DL, Correa PH, Costa EM, et al. Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene. Osteoporos Int 2007;18:369-74. (Pubitemid 46233183)
29. Bouvattier C, Carel JC, Lecointre C, et al. Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J Clin Endocrinol Metab 2002;87:29-32. (Pubitemid 34084665)
30. Ahmed SF, Cheng A, Hughes IA. Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome. Arch Dis Child 1999;80:324-9. (Pubitemid 29164754)
31. Aksglaede L, Skakkebaek NE, Almstrup K, et al. Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience. Acta Paediatr 2011;100:793-806.
32. Zitzmann M, Depenbusch M, Gromoll J, et al. X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J Clin Endocrinol Metab 2004;89:6208-17. (Pubitemid 39628435)