U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Androgen insensitivity, partial, with breast cancer

MedGen UID:
865018
•Concept ID:
C4016581
•
Finding
Synonym: ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
 
OMIM®: 313700

Professional guidelines

PubMed

Cancer genetics, genetic counseling, and cancer control.
Lynch HT, Lynch JF
Nebr Med J 1975 Feb;60(2):33-7. PMID: 1134602

Recent clinical studies

Etiology

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.
Guaragna-Filho G, Guerra-Junior G, Tadokoro-Cuccaro R, Hughes IA, Barros BA, Hiort O, Balsamo A, Guran T, Holterhus PM, Hannema S, Poyrazoglu S, Darendeliler F, Bryce J, Ahmed SF, Quigley CA
Sex Dev 2023;17(1):16-25. Epub 2023 Mar 14 doi: 10.1159/000526997. PMID: 36917969
Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function.
Coelingh Bennink HJT, Egberts JFM, Mol JA, Roes KCB, van Diest PJ
J Clin Endocrinol Metab 2020 Sep 1;105(9) doi: 10.1210/clinem/dgaa404. PMID: 32594127
Complete androgen insensitivity syndrome with a Sertoli-Leydig cell tumor.
Fagouri H, Moussaoui DR, Kouach J, Babahabib A, Oukabli M, Ameur A, Albouzidi A, Dehayni M
J Pediatr Adolesc Gynecol 2014 Oct;27(5):e113-5. Epub 2013 Dec 14 doi: 10.1016/j.jpag.2013.08.007. PMID: 24333107
Abnormal sexual differentiation and neoplasia.
Verp MS, Simpson JL
Cancer Genet Cytogenet 1987 Apr;25(2):191-218. doi: 10.1016/0165-4608(87)90180-4. PMID: 3548944
Familial cancer: implications for surgical management of high-risk patients.
Lynch HT, Organ CH Jr, Harris RE, Guirgis HA, Lynch PM, Lynch JF
Surgery 1978 Jan;83(1):104-13. PMID: 339389

Diagnosis

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.
Guaragna-Filho G, Guerra-Junior G, Tadokoro-Cuccaro R, Hughes IA, Barros BA, Hiort O, Balsamo A, Guran T, Holterhus PM, Hannema S, Poyrazoglu S, Darendeliler F, Bryce J, Ahmed SF, Quigley CA
Sex Dev 2023;17(1):16-25. Epub 2023 Mar 14 doi: 10.1159/000526997. PMID: 36917969
Complete androgen insensitivity syndrome with a Sertoli-Leydig cell tumor.
Fagouri H, Moussaoui DR, Kouach J, Babahabib A, Oukabli M, Ameur A, Albouzidi A, Dehayni M
J Pediatr Adolesc Gynecol 2014 Oct;27(5):e113-5. Epub 2013 Dec 14 doi: 10.1016/j.jpag.2013.08.007. PMID: 24333107
Androgen insensitivity syndrome with gynandroblastoma and vulvar leiomyoma: case report and literature review.
Tian W, Wang Y, Zhang H, Liu G, Ma X, Xue F
J Low Genit Tract Dis 2013 Jul;17(3):335-9. doi: 10.1097/LGT.0b013e3182702796. PMID: 23552209
A 19 year old with complete androgen insensitivity syndrome and juvenile fibroadenoma of the breast.
Davis SE, Wallace AM
Breast J 2001 Nov-Dec;7(6):430-3. doi: 10.1046/j.1524-4741.2001.07610.x. PMID: 11843857
Molecular genetics of androgen insensitivity syndromes.
Lobaccaro JM, Lumbroso S, Poujol N, Belon C, Sultan C
Cell Mol Biol (Noisy-le-grand) 1994 May;40(3):301-8. PMID: 7920176

Therapy

Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy.
Hoefgen HR, Merritt DF
J Pediatr Adolesc Gynecol 2015 Aug;28(4):e95-7. Epub 2014 Aug 18 doi: 10.1016/j.jpag.2014.08.005. PMID: 26024935
A cognitive behavioural model and therapy for utero-vaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome: MRKH).
Heller-Boersma JG, Edmonds DK, Schmidt UH
Behav Cogn Psychother 2009 Jul;37(4):449-67. Epub 2009 Jun 10 doi: 10.1017/S1352465809990051. PMID: 19508745

Prognosis

Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy.
Hoefgen HR, Merritt DF
J Pediatr Adolesc Gynecol 2015 Aug;28(4):e95-7. Epub 2014 Aug 18 doi: 10.1016/j.jpag.2014.08.005. PMID: 26024935
A cognitive behavioural model and therapy for utero-vaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome: MRKH).
Heller-Boersma JG, Edmonds DK, Schmidt UH
Behav Cogn Psychother 2009 Jul;37(4):449-67. Epub 2009 Jun 10 doi: 10.1017/S1352465809990051. PMID: 19508745
Possible teratogenic effect of chromosomal clones not corresponding to the phenotype.
Málková J, Chrz R
Rev Czech Med 1971;17(4):177-82. PMID: 5122075

Clinical prediction guides

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.
Guaragna-Filho G, Guerra-Junior G, Tadokoro-Cuccaro R, Hughes IA, Barros BA, Hiort O, Balsamo A, Guran T, Holterhus PM, Hannema S, Poyrazoglu S, Darendeliler F, Bryce J, Ahmed SF, Quigley CA
Sex Dev 2023;17(1):16-25. Epub 2023 Mar 14 doi: 10.1159/000526997. PMID: 36917969
Phenotypic heterogeneity of mutations in androgen receptor gene.
Rajender S, Singh L, Thangaraj K
Asian J Androl 2007 Mar;9(2):147-79. doi: 10.1111/j.1745-7262.2007.00250.x. PMID: 17334586
Coregulator small nuclear RING finger protein (SNURF) enhances Sp1- and steroid receptor-mediated transcription by different mechanisms.
Poukka H, Aarnisalo P, Santti H, Jänne OA, Palvimo JJ
J Biol Chem 2000 Jan 7;275(1):571-9. doi: 10.1074/jbc.275.1.571. PMID: 10617653
Functional and structural analysis of R607Q and R608K androgen receptor substitutions associated with male breast cancer.
Poujol N, Lobaccaro JM, Chiche L, Lumbroso S, Sultan C
Mol Cell Endocrinol 1997 Jun 20;130(1-2):43-51. doi: 10.1016/s0303-7207(97)00072-5. PMID: 9220020
Familial incomplete male pseudohermaphroditism associated with impaired nuclear androgen retention. Studies in cultured skin fibroblasts.
Eil C
J Clin Invest 1983 Apr;71(4):850-8. doi: 10.1172/jci110839. PMID: 6833492Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity