androgen insensitivity syndrome

Summary

Summary: A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.

Top Publications

  1. Jeske Y, McGown I, Cowley D, Oley C, Thomsett M, Choong C, et al. Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations. J Pediatr Endocrinol Metab. 2007;20:893-908 pubmed
    We genotyped the androgen receptor (AR) gene in 31 Australasian patients with androgen insensitivity syndrome (AIS). The entire coding region of AR was examined including analysis of polymorphic CAG and GGN repeats in all patients...
  2. Galani A, Kitsiou Tzeli S, Sofokleous C, Kanavakis E, Kalpini Mavrou A. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones (Athens). 2008;7:217-29 pubmed
    The end-organ resistance to androgens has been designated as androgen insensitivity syndrome (AIS), an X-linked disorder caused by mutations in the androgen receptor (AR) gene...
  3. Wang M, Wang J, Zhang Z, Zhao Z, Zhang R, Hu X, et al. Dissecting phenotypic variation among AIS patients. Biochem Biophys Res Commun. 2005;335:335-42 pubmed
    ..genital skin fibroblast cell lines directly from three patients in a Chinese family affected by androgen insensitivity syndrome (AIS)...
  4. Oakes M, Eyvazzadeh A, Quint E, Smith Y. Complete androgen insensitivity syndrome--a review. J Pediatr Adolesc Gynecol. 2008;21:305-10 pubmed publisher
    This review paper highlights important diagnostic and therapeutic concerns for girls with Complete Androgen Insensitivity Syndrome (CAIS)...
  5. Wisniewski A, Migeon C. Long-term perspectives for 46,XY patients affected by complete androgen insensitivity syndrome or congenital micropenis. Semin Reprod Med. 2002;20:297-304 pubmed
    ..been gathered on older cohorts of the following patient groups: (1) those affected by complete androgen insensitivity syndrome (CAIS) raised female and (2) those affected by congenital micropenis raised male or female...
  6. Coutant R, Mallet D, Lahlou N, Bouhours Nouet N, Guichet A, Coupris L, et al. Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. J Clin Endocrinol Metab. 2007;92:2868-73 pubmed
    ..In humans, mutations in steroidogenic factor-1 (SF-1), one of the critical factors involved in testis development, have been reported to cause gonadal dysgenesis with or without adrenal failure in 46,XY individuals...
  7. Appari M, Werner R, Wünsch L, Cario G, Demeter J, Hiort O, et al. Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome. J Mol Med (Berl). 2009;87:623-32 pubmed publisher
    b>Androgen insensitivity syndrome (AIS) is the most common cause of disorders of sex development usually caused by mutations in the androgen receptor (AR) gene...
  8. Danilovic D, Correa P, Costa E, Melo K, Mendonca B, Arnhold I. Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene. Osteoporos Int. 2007;18:369-74 pubmed
    b>Androgen insensitivity syndrome (AIS) constitutes a natural model to study effects of androgens and estrogens on growth and bone density...
  9. Ahmed S, Cheng A, Hughes I. Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome. Arch Dis Child. 1999;80:324-9 pubmed
    To study the value of measuring serum luteinising hormone (LH), follicle stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) in androgen insensitivity syndrome (AIS).

More Information

Publications62

  1. Weidemann W, Peters B, Romalo G, Spindler K, Schweikert H. Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. J Clin Endocrinol Metab. 1998;83:1173-6 pubmed
    ..In addition, serum lipid levels were not affected. To our knowledge this is the first documentation of successful treatment in a patient with PAIS and a point mutation in the DNA-binding domain of the androgen receptor...
  2. Papadimitriou D, Linglart A, Morel Y, Chaussain J. Puberty in subjects with complete androgen insensitivity syndrome. Horm Res. 2006;65:126-31 pubmed
    Androgen receptor defects affect the regulation of the gonadotropic axis. However, little is known about the timing of pubertal maturation in complete androgen insensitivity syndrome (CAIS).
  3. Marcelli M, Zoppi S, Wilson C, Griffin J, McPhaul M. Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex. J Clin Invest. 1994;94:1642-50 pubmed
    ..These studies suggest that the stability of the hormone receptor complex is a major determinant of receptor function in vivo...
  4. Hannema S, Scott I, Hodapp J, Martin H, Coleman N, Schwabe J, et al. Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome. J Clin Endocrinol Metab. 2004;89:5815-22 pubmed
    ..Patients with the complete androgen insensitivity syndrome (CAIS) are therefore not expected to develop these structures...
  5. Ismail Pratt I, Bikoo M, Liao L, Conway G, Creighton S. Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. Hum Reprod. 2007;22:2020-4 pubmed
    ..Various surgical and non-surgical treatment options are available for women with congenital vaginal agenesis. We report results of vaginal dilation therapy delivered by a multi-disciplinary team as first line treatment for vaginal agenesis...
  6. Deeb A, Mason C, Lee Y, Hughes I. Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf). 2005;63:56-62 pubmed
    Partial androgen insensitivity syndrome (PAIS) is a heterogeneous group of intersex disorders characterized by a typical perineoscrotal hypospadias/micropenis phenotype, and a normal androgen-producing testis...
  7. Vega Gutierrez J, Miranda Romero A, Pérez Milán F, Martinez Garcia G. Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization). J Eur Acad Dermatol Venereol. 2004;18:463-6 pubmed
    ..A frequent form of male pseudohermaphroditism is complete androgen insensitivity syndrome (CAIS), also known as testicular feminization syndrome...
  8. Mazur T. Gender dysphoria and gender change in androgen insensitivity or micropenis. Arch Sex Behav. 2005;34:411-21 pubmed
    ..answers three questions relevant to the medical management and care of individuals born with complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), or a micropenis: (1) Do any of these ..
  9. Cermak J, Krenzer K, Sullivan R, Dana M, Sullivan D. Is complete androgen insensitivity syndrome associated with alterations in the meibomian gland and ocular surface?. Cornea. 2003;22:516-21 pubmed
    This study's purpose was to determine whether complete androgen insensitivity syndrome (CAIS) is associated with alterations in the meibomian gland and ocular surface.
  10. Minto C, Liao K, Conway G, Creighton S. Sexual function in women with complete androgen insensitivity syndrome. Fertil Steril. 2003;80:157-64 pubmed
    To investigate sexual function in women with complete androgen insensitivity syndrome (CAIS) and to investigate the prevalence of factors that might contribute to sexual difficulties.
  11. Han T, Goswami D, Trikudanathan S, Creighton S, Conway G. Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. Eur J Endocrinol. 2008;159:179-85 pubmed publisher
    To compare bone mineral density (BMD) and body proportions between women with complete androgen insensitivity syndrome (CAIS) and with gonadal dysgenesis (GD).
  12. Boehmer A, Brinkmann A, Nijman R, Verleun Mooijman M, de Ruiter P, Niermeijer M, et al. Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. J Clin Endocrinol Metab. 2001;86:1240-6 pubmed
    Mutations in the androgen receptor (AR) gene result in a wide range of phenotypes of the androgen insensitivity syndrome (AIS)...
  13. Bouvattier C, Carel J, Lecointre C, David A, Sultan C, Bertrand A, 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 pubmed
    ..5 U/liter, P = 0.004). We conclude that the postnatal T and LH surge occurs expectedly in neonates with PAIS but is absent in those with CAIS and that the postnatal T rise requires the receptivity of the hypothalamo-pituitary axis to T...
  14. Quigley C. Editorial: The postnatal gonadotropin and sex steroid surge-insights from the androgen insensitivity syndrome. J Clin Endocrinol Metab. 2002;87:24-8 pubmed
  15. Melo K, Mendonca B, Billerbeck A, Costa E, Inacio M, Silva F, 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 pubmed
    b>Androgen insensitivity syndrome (AIS) is caused by mutations in the androgen receptor gene and is associated with a variety of phenotypes in 46,XY individuals, ranging from phenotypic women [complete form (CAIS)] to men with minor ..
  16. He B, Gampe R, Hnat A, Faggart J, Minges J, French F, et al. Probing the functional link between androgen receptor coactivator and ligand-binding sites in prostate cancer and androgen insensitivity. J Biol Chem. 2006;281:6648-63 pubmed
    ..In the androgen insensitivity syndrome, germ line AR mutations increase the androgen dissociation rate and reduce AR FXXLF motif binding and ..
  17. Hannema S, Scott I, Rajpert De Meyts E, Skakkebaek N, Coleman N, Hughes I. Testicular development in the complete androgen insensitivity syndrome. J Pathol. 2006;208:518-27 pubmed
    The complete androgen insensitivity syndrome (CAIS), caused by mutations in the androgen receptor (AR) gene, is associated with abnormal testicular development and an increased risk of germ cell malignancy...
  18. Ledig S, Jakubiczka S, Neulen J, Aulepp U, Burck Lehmann U, Mohnike K, et al. Novel and recurrent mutations in patients with androgen insensitivity syndromes. Horm Res. 2005;63:263-9 pubmed
    b>Androgen insensitivity syndrome (AIS) caused by mutations within the androgen receptor gene represents a variety of phenotypes from females with 46,XY karyotype over individuals with ambiguous genitalia to infertile males.
  19. Ahmed S, Cheng A, Dovey L, Hawkins J, Martin H, Rowland J, 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 pubmed
    b>Androgen insensitivity syndrome (AIS) is the most common single entity that results in male under-masculinization, but large cohort studies of AIS have rarely been performed...
  20. Nguyen D, Steinberg S, Rouault E, Chagnon S, Gottlieb B, Pinsky L, et al. A G577R mutation in the human AR P box results in selective decreases in DNA binding and in partial androgen insensitivity syndrome. Mol Endocrinol. 2001;15:1790-802 pubmed
    We have characterized a novel mutation of the human AR, G577R, associated with partial androgen insensitivity syndrome. G577 is the first amino acid of the P box, a region crucial for the selectivity of receptor/DNA interaction...
  21. Stewart C, Baker E, Beaton C, Crook M, Peverall J, Wallace S. Detection of Y-chromosome in gonadal tumours using fluorescence in situ hybridization: diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome. Histopathology. 2008;52:175-82 pubmed publisher
    ..gene on the Y-chromosome, in gonadal specimens from patients with intersex disorders including two older individuals presenting with Sertoli cell adenomas and clinically unsuspected androgen insensitivity syndrome (AIS).
  22. Sullivan B, Evans J, Cermak J, Krenzer K, Dana M, Sullivan D. Complete androgen insensitivity syndrome: effect on human meibomian gland secretions. Arch Ophthalmol. 2002;120:1689-99 pubmed
    ..To determine whether androgen receptors affect the fatty acid profiles of neutral and polar lipids in human meibomian gland secretions...
  23. Hines M, Ahmed S, Hughes I. Psychological outcomes and gender-related development in complete androgen insensitivity syndrome. Arch Sex Behav. 2003;32:93-101 pubmed
    We evaluated psychological outcomes and gender development in 22 women with complete androgen insensitivity syndrome (CAIS). Participants were recruited through a medical database (n = 10) or through a patient support group (n = 12)...
  24. Hurme T, Lahdes Vasama T, Makela E, Iber T, Toppari J. Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome. Scand J Urol Nephrol. 2009;43:42-6 pubmed publisher
    Complete androgen insensitivity syndrome (CAIS) is a rare disease. However, there is a higher rate of CAIS in girls with inguinal hernia...
  25. Tokgoz H, Turksoy O, Boyacigil S, Sakman B, Yuksel E. Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. Acta Radiol. 2006;47:222-5 pubmed
    Complete androgen insensitivity syndrome, commonly known as the testicular feminization syndrome, is characterized by a 46, XY karyotype, bilateral testes, absent or hypoplastic Wolffian ducts, and female-appearing external genitalia ..
  26. Bisceglia M, Magro G, Ben Dor D. Familial complete androgen insensitivity syndrome (Morris syndrome or testicular feminization syndrome) in 2 sisters. Adv Anat Pathol. 2008;15:113-7 pubmed publisher
  27. Dati E, Baroncelli G, Mora S, Russo G, Baldinotti F, Parrini D, et al. Body composition and metabolic profile in women with complete androgen insensitivity syndrome. Sex Dev. 2009;3:188-93 pubmed publisher
    ..A group of young to middle-age adult women with complete androgen insensitivity syndrome (CAIS, n = 18, age 32.2 +/- 9...
  28. Ozülker T, Ozpacaci T, Ozülker F, Ozekici U, Bilgic R, Mert M. Incidental detection of Sertoli-Leydig cell tumor by FDG PET/CT imaging in a patient with androgen insensitivity syndrome. Ann Nucl Med. 2010;24:35-9 pubmed publisher
    ..the magnetic resonance imaging findings of absent uterus, short and blind end vagina, a diagnosis of androgen insensitivity syndrome was made...
  29. Li W, Cavasotto C, Cardozo T, Ha S, Dang T, Taneja S, et al. Androgen receptor mutations identified in prostate cancer and androgen insensitivity syndrome display aberrant ART-27 coactivator function. Mol Endocrinol. 2005;19:2273-82 pubmed
    ..and its coregulators may contribute to diseases related to AR activity, such as prostate cancer and androgen insensitivity syndrome (AIS); however, evidence linking abnormal receptor-cofactor interactions to disease is scant...
  30. Wong H, Hoogerbrugge J, Pang K, Van Leeuwen M, van Royen M, Molier M, et al. A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation. Mol Cell Endocrinol. 2008;292:69-78 pubmed publisher
    ..It is concluded that the penoscrotal hypospadias in the present case is caused by an as yet unknown mechanism, which still may involve the mutant AR...
  31. Conn J, Gillam L, Conway G. Revealing the diagnosis of androgen insensitivity syndrome in adulthood. BMJ. 2005;331:628-30 pubmed
  32. Mazen I, Lumbroso S, Abdel Ghaffar S, Salah N, Sultan C. Mutation of the androgen receptor (R840S) in an Egyptian patient with partial androgen insensitivity syndrome: review of the literature on the clinical expression of different R840 substitutions. J Endocrinol Invest. 2004;27:57-60 pubmed
    The X-linked androgen insensitivity syndrome (AIS) encompasses a heterogeneous group of defects in the androgen receptor (AR) that result in varying degrees of undermasculinization...
  33. Elmlinger M, Mayer I, Schnabel D, Schuett B, Diesing D, Romalo G, et al. Decreased expression of IGF-II and its binding protein, IGF-binding protein-2, in genital skin fibroblasts of patients with complete androgen insensitivity syndrome compared with normally virilized males. J Clin Endocrinol Metab. 2001;86:4741-6 pubmed
  34. Imasaki K, Hasegawa T, Okabe T, Sakai Y, Haji M, Takayanagi R, et al. Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor. Eur J Endocrinol. 1994;130:569-74 pubmed
    ..the androgen receptor in a Japanese girl and her maternal cousin in a family with incomplete androgen insensitivity syndrome, and have investigated the molecular basis...
  35. Lundberg Giwercman Y, Nikoshkov A, Lindsten K, Bystrom B, Pousette A, Chibalin A, et al. Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome. Hum Genet. 1998;103:529-31 pubmed
    ..The in vitro functions of the R840G and M895T mutants were improved with supraphysiological concentrations of steroid...
  36. Kohler B, Lumbroso S, Leger J, Audran F, Grau E, Kurtz F, et al. Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling. J Clin Endocrinol Metab. 2005;90:106-11 pubmed
    b>Androgen insensitivity syndrome (AIS) is caused by numerous mutations of the androgen receptor (AR) gene. The phenotype may range from partial AIS (PAIS) with ambiguous genitalia to complete AIS (CAIS) with female genitalia...
  37. Diamond M, Watson L. Androgen insensitivity syndrome and Klinefelter's syndrome: sex and gender considerations. Child Adolesc Psychiatr Clin N Am. 2004;13:623-40, viii pubmed
    ..Tips on counseling and medical management are offered...
  38. Philibert P, Audran F, Pienkowski C, Morange I, Kohler B, Flori E, et al. Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. Fertil Steril. 2010;94:472-6 pubmed publisher
    To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic analysis and to determine the prevalence of exon 1 mutations in the androgen receptor (AR) transactivation defects of a large ..
  39. Holterhus P, Hiort O, Demeter J, Brown P, Brooks J. Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor. Genome Biol. 2003;4:R37 pubmed
    b>Androgen insensitivity syndrome (AIS) comprises a range of phenotypes from male infertility to complete feminization...
  40. Drop S, Boehmer A, Slijper F, Nijman J, Hazebroek F, Niermeijer M. [Differential diagnosis and treatment of girls with 46XY-karyotype and androgen insensitivity syndrome]. Ned Tijdschr Geneeskd. 2001;145:665-9 pubmed
    ..of androgens during the critical period of male sexual development is exemplified in patients with androgen insensitivity syndrome. Their karyotype is always 46XY...
  41. Kawate H, Wu Y, Ohnaka K, Tao R, Nakamura K, Okabe T, et al. Impaired nuclear translocation, nuclear matrix targeting, and intranuclear mobility of mutant androgen receptors carrying amino acid substitutions in the deoxyribonucleic acid-binding domain derived from androgen insensitivity syndrome patients. J Clin Endocrinol Metab. 2005;90:6162-9 pubmed
    ..In this study, we examined whether intracellular dynamics of mutant ARs detected in two androgen insensitivity syndrome (AIS) patients was impaired.
  42. Bhangoo A, Paris F, Philibert P, Audran F, Ten S, Sultan C. Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis. Asian J Androl. 2010;12:561-6 pubmed publisher
    Partial androgen insensitivity syndrome (PAIS) is the milder variant of androgen receptor (AR) defects...
  43. Szafran A, Hartig S, Sun H, Uray I, Szwarc M, Shen Y, et al. Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine. PLoS ONE. 2009;4:e8179 pubmed publisher
    b>Androgen insensitivity syndrome (AIS) is a rare disease associated with inactivating mutations of AR that disrupt male sexual differentiation, and cause a spectrum of phenotypic abnormalities having as a common denominator loss of ..
  44. Suzuki K, Fukabori Y, Nakazato H, Hasumi M, Matsui H, Ito K, et al. Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome. Int J Androl. 2001;24:183-8 pubmed
    b>Androgen insensitivity syndrome (AIS) is an X-linked recessive disorder. The molecular mechanism of AIS is reduction or absence of androgen signalling caused by androgen receptor (AR) malfunction or absence...
  45. Boehmer A, Brinkmann O, Bruggenwirth H, van Assendelft C, Otten B, Verleun Mooijman M, et al. Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab. 2001;86:4151-60 pubmed
    b>Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene...
  46. Cheikhelard A, Morel Y, Thibaud E, Lortat Jacob S, Jaubert F, Polak M, et al. Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J Urol. 2008;180:1496-501 pubmed publisher
    Diagnosis and management of the complete androgen insensitivity syndrome have dramatically changed in the last few decades, with earlier diagnosis and the development of molecular biology...
  47. Mantelli F, Moretti C, Micera A, Bonini S. Conjunctival mucin deficiency in complete androgen insensitivity syndrome (CAIS). Graefes Arch Clin Exp Ophthalmol. 2007;245:899-902 pubmed
    ..for a healthy ocular surface and the androgen receptor impairment found in patients with complete androgen insensitivity syndrome (CAIS) has been described to cause meibomian gland dysfunction and functional dry eye for lipid tear ..
  48. Iwamoto I, Yanazume S, Fujino T, Yoshioka T, Douchi T. Leydig cell tumor in an elderly patient with complete androgen insensitivity syndrome. Gynecol Oncol. 2005;96:870-2 pubmed
    b>Androgen insensitivity syndrome (AIS) is usually diagnosed in phenotypically female patients at puberty with primary amenorrhea...
  49. Quigley C, De Bellis A, Marschke K, el Awady M, Wilson E, French F. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995;16:271-321 pubmed
  50. McPhaul M. Androgen receptor mutations and androgen insensitivity. Mol Cell Endocrinol. 2002;198:61-7 pubmed
    ..Such decreases in AR function may be the result of the diminished receptor function, decreases in receptor concentration, or a combination of these two effects...
  51. Diesing D, Elmlinger M, Schuett B, Weidemann W, Romalo G, Schweikert H, et al. Genital skin fibroblasts (GF) of patients with androgen insensitivity syndrome express higher insulin-like growth factor binding protein (IGFBP)-2, -3 and -5 than GF of normally virilized males. Horm Res. 2003;60:73-8 pubmed
  52. Ohba K, Hayashida Y, Hakariya H, Ichinose S, Naitou S. [Case of complete androgen insensitivity syndrome]. Hinyokika Kiyo. 2009;55:277-80 pubmed
    b>Androgen insensitivity syndrome, gonadectomy, estrogen supplementation a 23-year-old single female visited our gynecological clinic because of primary amenorrhea. The patient's breast development was good...
  53. López Capapé M, Alonso M, Goncalves J, Barrio R. [Partial androgen insensitivity syndrome associated with familiar breast cancer]. Med Clin (Barc). 2005;124:598-9 pubmed