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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
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
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

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
Molecular basis of androgen receptor diseases.
Yong EL, Lim J, Qi W, Ong V, Mifsud A
Ann Med 2000 Feb;32(1):15-22. doi: 10.3109/07853890008995905. PMID: 10711573
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

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