A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family

Fertility and Sterility

Volumn 89, Issue 5, 2008, Pages 1260.e3-1260.e7

  Decaestecker, Karel ^a   Philibert, Pascal ^b   De Baere, Elfride ^a   Hoebeke, Piet ^a   Kaufman, Jean Marc ^a   Sultan, Charles ^c   T'Sjoen, Guy ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b LAPEYRONIE HOSPITAL   (France)

^c INSERM   (France)

Author keywords

AR gene; c.118delA; CAIS; exon 1; mutation

Indexed keywords

ANDROGEN RECEPTOR; ESTRADIOL;

ADULT; ANAMNESIS; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; CAUCASIAN; CELL HYPERPLASIA; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC COUNSELING; GONADECTOMY; HETEROZYGOTE DETECTION; HORMONE SUBSTITUTION; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; LEYDIG CELL; NUCLEOTIDE SEQUENCE; OVARY DISEASE; PRIORITY JOURNAL; UNIVERSITY HOSPITAL;

EID: 43449137863     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2007.04.057     Document Type: Article

References (19)

1. C.J. Migeon G.D. Berkovitz T.R. Brown Sexual differentiation and ambiguity M.S. Kappy R.M. Blizzard C.J. Migeon The diagnosis and treatment of endocrine disorders in childhood and adolescence 1994 Charles C. Thomas Springfield, IL 573 715
2. A.O. Brinkmann Molecular basis of androgen insensitivity Mol Cell Endocrinol 179 2001 105 109
3. D.B. Lubahn D.R. Joseph P.M. Sullivan H.F. Willard F.S. French E.M. Wilson Cloning of human androgen receptor complementary DNA and localization to the X chromosome Science 240 1988 327 330
4. C. Sultan F. Paris B. Terouanne P. Balaguer V. Georget N. Poujol Disorders linked to insufficient androgen action in male children Hum Reprod Update 7 2001 314 322
5. C.A. Quigley A. De Bellis K.B. Marschke M.K. el-Awady E.M. Wilson F.S. French Androgen receptor defects: historical, clinical, and molecular perspectives Endocr Rev 16 1995 271 321
6. G.H. Sinnecker O. Hiort E.M. Nitsche P.M. Holterhus K. Kruse Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study Group Eur J Pediatr 156 1997 7 14
7. B. Gottlieb L.K. Beitel J.H. Wu M. Trifiro The androgen receptor gene mutations database (ARDB): 2004 update Hum Mutat 23 2004 527 533
8. J.M. Morris The syndrome of testicular feminization in male pseudohermaphrodites Am J Obstet Gynecol 65 1953 1192 1211
9. A.B. Wisniewski C.J. Migeon H.F. Meyer-Bahlburg J.P. Gearhart G.D. Berkovitz T.R. Brown Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome J Clin Endocrinol Metab 85 2000 2664 2669
10. M. Hines S.F. Ahmed I.A. Hughes Psychological outcomes and gender-related development in complete androgen insensitivity syndrome Arch Sex Behav 32 2003 93 101
11. M. Diamond L.A. Watson Androgen insensitivity syndrome and Klinefelter's syndrome: sex and gender considerations Child Adolesc Psychiatr Clin N Am 13 2004 623 640
12. S.F. Ahmed A. Cheng L. Dovey J.R. Hawkins H. Martin J. Rowland Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome J Clin Endocrinol Metab 85 2000 658 665
13. S.E. Hannema I.S. Scott E. Rajpert-De Meyts N.E. Skakkebaek N. Coleman I.A. Hughes Testicular development in the complete androgen insensitivity syndrome J Pathol 208 2006 518 527
14. Gottlieb B. Androgen Receptor Gene Mutations Database World Wide Web Server. Lady Davis Institute for Medical Research, Sir Mortimer B. Davis Jewish General Hospital, McGill University, Montreal, Quebec, Canada. Updated June 12, 2005. Available at: http://androgendb.mcgill.ca/
15. O. Hiort G.H. Sinnecker P.M. Holterhus E.M. Nitsche K. Kruse Inherited and de novo androgen receptor gene mutations: investigation of single-case families J Pediatr 132 1998 939 943
16. B. Kohler S. Lumbroso J. Leger F. Audran E.S. Grau F. Kurtz Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling J Clin Endocrinol Metab 90 2005 106 111
17. B. Gottlieb D.M. Vasiliou R. Lumbroso L.K. Beitel L. Pinsky M.A. Trifiro Analysis of exon 1 mutations in the androgen receptor gene Hum Mutat 14 1999 527 539
18. S. Lumbroso J.M. Lobaccaro C. Belon S. Amram B. Bachelard P. Garandeau Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome) Eur J Endocrinol 130 1994 327 332
19. J. Conn L. Gillam G.S. Conway Revealing the diagnosis of androgen insensitivity syndrome in adulthood BMJ 331 2005 628 630