MCID: CMP034
MIFTS: 47

Complete Androgen Insensitivity Syndrome

Categories: Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Complete Androgen Insensitivity Syndrome

MalaCards integrated aliases for Complete Androgen Insensitivity Syndrome:

Name: Complete Androgen Insensitivity Syndrome 49 55
Cais 49 55
Androgen Insensitivity Syndrome, Complete 49
Androgen Insensitivity Syndrome Complete 51
Complete Androgen Resistance Syndrome 55
Testicular Feminization 69

Characteristics:

Orphanet epidemiological data:

55
complete androgen insensitivity syndrome
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



Summaries for Complete Androgen Insensitivity Syndrome

NIH Rare Diseases : 49 Complete androgen insensitivity syndromeis a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. As a result, they generally have normal female external genitalia and female breasts. However, they do not have a uterus or cervix so are unable to menstruate or conceive children. Other signs and symptoms may include undescended testes and sparse to absent pubic hair. Gender identity is typically female. Complete androgen insensitivity syndrome is caused by changes (mutations) in the AR gene and is inherited in an X-linked manner. Treatment and gender assignment can be a very complex issue, and must be individualized with each affected person. In general, surgery may be required to remove testes that are located in unusual places and estrogen replacement therapy can be prescribed after puberty. Last updated: 11/18/2015

MalaCards based summary : Complete Androgen Insensitivity Syndrome, also known as cais, is related to androgen insensitivity syndrome and cystadenofibroma, and has symptoms including inguinal hernia, cryptorchidism and testicular gonadoblastoma. An important gene associated with Complete Androgen Insensitivity Syndrome is AR (Androgen Receptor), and among its related pathways/superpathways are Metabolism of proteins and Glucose / Energy Metabolism. Affiliated tissues include uterus, breast and testes, and related phenotypes are endocrine/exocrine gland and liver/biliary system

Related Diseases for Complete Androgen Insensitivity Syndrome

Diseases related to Complete Androgen Insensitivity Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 96, show less)
# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 32.1 AR CGA LYVE1 SHBG SRY
2 cystadenofibroma 30.2 MUC1 SRY
3 seminoma 30.0 ALPPL2 CGA IGF2
4 sex differentiation disease 29.2 AR CYP19A1 SHBG SRY
5 apocrine adenocarcinoma 10.5 AR MUC1
6 paget disease, extramammary 10.4 AR MUC1
7 reticulum cell sarcoma 10.4 LYVE1 MUC1
8 47,xyy 10.4 IGFBP3 SRY
9 ocular hyperemia 10.4 IGF2 IGFBP3
10 orbital cyst 10.4 IGF2 PTGDS
11 acid-labile subunit deficiency 10.4 IGF2 IGFBP3
12 anorchia 10.4 CGA SRY
13 postmenopausal atrophic vaginitis 10.3 AR SHBG
14 cerebral primitive neuroectodermal tumor 10.3 LYVE1 MUC1
15 prostatic adenoma 10.3 AR SHBG
16 papilloma of choroid plexus 10.3 IGF2 MUC1
17 penis agenesis 10.3 AR CGA IGFBP3
18 marasmus 10.3 IGFBP3 SHBG
19 fetal macrosomia 10.3 IGF2 IGFBP3
20 inguinal hernia 10.2
21 testicular disease 10.2 CGA SRY
22 breast mucoepidermoid carcinoma 10.2 MUC1 MUC5AC
23 seborrheic dermatitis 10.2 CGA SHBG
24 hemangiopericytoma, malignant 10.2 IGF2 MUC1
25 leydig cell tumor 10.2
26 bile duct mucoepidermoid carcinoma 10.2 MUC1 MUC5AC
27 chronic ethmoiditis 10.2 MUC1 MUC5AC
28 bile duct cystadenocarcinoma 10.2 MUC1 MUC5AC
29 mucinous ovarian cystadenoma 10.2 MUC1 MUC5AC
30 filamentary keratitis 10.2 MUC1 MUC5AC
31 47, xxy 10.2 AR IGFBP3 SHBG
32 sertoli-leydig cell tumor 10.2
33 male reproductive organ cancer 10.1 AR IGFBP3 SHBG
34 biliary papillomatosis 10.1 MUC1 MUC5AC
35 ethmoid sinusitis 10.1 MUC1 MUC5AC
36 colloid carcinoma of the pancreas 10.1 MUC1 MUC5AC
37 malignant germ cell tumor 10.1 ALPPL2 AR CGA
38 limbal stem cell deficiency 10.1 MUC1 MUC5AC
39 transsexualism 10.1 AR CYP19A1
40 wilms tumor 1 10.1 AR IGF2 SRY
41 testicular cancer 10.1 AR CGA SHBG
42 gender identity disorder 10.1 AR CYP19A1
43 adenoma 10.1
44 meconium ileus 10.1 MUC1 MUC5AC
45 gastric tubular adenocarcinoma 10.1 MUC1 MUC5AC
46 hermaphroditism 10.1 AR SHBG SRY
47 gonadal disease 10.1 AR SHBG SRY
48 mammographic density 10.1 CYP19A1 IGFBP3
49 prostatic hyperplasia, benign 10.0 AR CYP19A1
50 oocyte maturation defect 1 10.0 CGA CYP19A1
51 luteoma 10.0 CGA CYP19A1
52 turner syndrome 10.0 IGFBP3 SHBG SRY
53 chronic maxillary sinusitis 10.0 LYVE1 MUC5AC
54 tn polyagglutination syndrome 10.0 MUC1 MUC5AC
55 lipoid congenital adrenal hyperplasia 10.0
56 amenorrhea 10.0
57 gonadal dysgenesis 10.0
58 pancreatic mucinous cystadenoma 10.0 MUC1 MUC5AC
59 prostate disease 9.9 AR CYP19A1 NR1H2
60 endocrine gland cancer 9.9 AR CYP19A1 IGFBP3
61 hypoactive sexual desire disorder 9.9 CYP19A1 SHBG
62 ductal carcinoma in situ 9.9 AR CYP19A1 MUC1
63 pseudomyxoma peritonei 9.9 MUC1 MUC5AC
64 estrogen excess 9.9 CYP19A1 SHBG
65 testicular torsion 9.9
66 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
67 testicular germ cell tumor 9.9
68 mayer-rokitansky-kuster-hauser syndrome 9.9
69 testicular germ cell tumor 1 9.9
70 46,xy sex reversal 1 9.9
71 episodic pain syndrome, familial, 1 9.9
72 leiomyoma 9.9
73 46 xy gonadal dysgenesis 9.9
74 prostatitis 9.9
75 vaginitis 9.9
76 sertoli cell tumor 9.9
77 germ cells tumors 9.9
78 precocious puberty 9.9
79 ring chromosome y syndrome 9.9
80 microtia 9.9
81 prostatic hypertrophy 9.8 AR CYP19A1
82 gonadoblastoma 9.8 ALPPL2 SRY
83 alopecia, androgenetic, 1 9.8 AR CYP19A1 SHBG
84 androgenic alopecia 9.8 AR CYP19A1 SHBG
85 insulin-like growth factor i 9.7 IGF2 IGFBP2 IGFBP3 SHBG
86 cystitis cystica 9.7 AR MUC5AC
87 premature ovarian failure 1 9.7 CYP19A1 IGFBP3 SHBG
88 anovulation 9.7 CGA CYP19A1 SHBG
89 ovarian disease 9.7 CGA CYP19A1 SHBG
90 choriocarcinoma 9.7 ALPPL2 CGA CYP19A1
91 androgen insensitivity, partial 9.6 AR CYP19A1 LYVE1 SHBG
92 reproductive system disease 9.5 AR CYP19A1 SHBG SRY
93 osteoporosis 9.4 AR CYP19A1 IGFBP3 SHBG
94 gynecomastia 9.2 AR CGA CYP19A1 SHBG SRY
95 cryptorchidism, unilateral or bilateral 8.8 ALPPL2 AR CGA CYP19A1 SHBG SRY
96 prostate cancer 8.7 AR CYP19A1 IGF2 IGFBP2 IGFBP3 LYVE1

Graphical network of the top 20 diseases related to Complete Androgen Insensitivity Syndrome:



Diseases related to Complete Androgen Insensitivity Syndrome

Symptoms & Phenotypes for Complete Androgen Insensitivity Syndrome

Human phenotypes related to Complete Androgen Insensitivity Syndrome:

55 31 (showing 16, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
2 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
3 testicular gonadoblastoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000030
4 male pseudohermaphroditism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000037
5 aplasia of the uterus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000151
6 sensory neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000763
7 gynecomastia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000771
8 primary amenorrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000786
9 nephrolithiasis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000787
10 infertility 55 31 hallmark (90%) Very frequent (99-80%) HP:0000789
11 osteoporosis 55 31 frequent (33%) Frequent (79-30%) HP:0000939
12 tremor 55 31 occasional (7.5%) Occasional (29-5%) HP:0001337
13 absent axillary hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002221
14 absent pubic hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002555
15 muscle cramps 55 31 occasional (7.5%) Occasional (29-5%) HP:0003394
16 aplasia/hypoplasia of the fallopian tube 55 31 hallmark (90%) Very frequent (99-80%) HP:0008655

MGI Mouse Phenotypes related to Complete Androgen Insensitivity Syndrome:

43 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.5 AR CGA CYP19A1 IGF2 IGFBP3 NR1H2
2 liver/biliary system MP:0005370 9.1 IGF2 IGFBP2 IGFBP3 NR1H2 AR CYP19A1

Drugs & Therapeutics for Complete Androgen Insensitivity Syndrome

Search Clinical Trials , NIH Clinical Center for Complete Androgen Insensitivity Syndrome

Genetic Tests for Complete Androgen Insensitivity Syndrome

Anatomical Context for Complete Androgen Insensitivity Syndrome

MalaCards organs/tissues related to Complete Androgen Insensitivity Syndrome:

38
Uterus, Breast, Testes, Cervix, Bone, Skin, Brain

Publications for Complete Androgen Insensitivity Syndrome

Articles related to Complete Androgen Insensitivity Syndrome:

(showing 181, show less)
# Title Authors Year
1
Mental Health and Disorders of Sex Development/Intersex Conditions in Iranian Culture: Congenital Adrenal Hyperplasia, 5-I+ Reductase Deficiency-Type 2, and Complete Androgen Insensitivity Syndrome. ( 29294229 )
2018
2
Aberrant breast tissue in complete androgen insensitivity syndrome. ( 29388223 )
2018
3
Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic. ( 28615185 )
2017
4
Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China. ( 28947719 )
2017
5
Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads. ( 28715798 )
2017
6
Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome. ( 28719895 )
2017
7
A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. ( 28743543 )
2017
8
Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome. ( 29206494 )
2017
9
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. ( 28351649 )
2017
10
Mismatch between fetal sexing and birth phenotype: aA case of complete androgen insensitivity syndrome. ( 29118296 )
2017
11
Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy. ( 28493277 )
2017
12
Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. ( 27998513 )
2017
13
Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome. ( 28413602 )
2017
14
A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome. ( 28857053 )
2017
15
Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When? ( 28719904 )
2017
16
[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR]. ( 28186600 )
2017
17
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
18
Gonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate. ( 28609774 )
2017
19
Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome. ( 27284311 )
2016
20
Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report. ( 28270903 )
2016
21
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. ( 27609317 )
2016
22
Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree. ( 27651630 )
2016
23
Laparoscopic Gonadectomy and Hernia Repair for Complete Androgen Insensitivity Syndrome (CAIS): A Rare Cause of Primary Amenorrhea. ( 27298532 )
2016
24
Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination. ( 28039344 )
2016
25
The contribution of the androgen receptor (AR) in human spatial learning and memory: A study in women with complete androgen insensitivity syndrome (CAIS). ( 26522496 )
2015
26
Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome- Current Recommendations and Future Directions. ( 26428189 )
2015
27
Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome. ( 26023570 )
2015
28
Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene. ( 26435450 )
2015
29
A novel insA2933 causes premature termination of translation and is accompanied by overexpression of truncated androgen receptor gene in a patient with complete androgen insensitivity syndrome. ( 25997614 )
2015
30
Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. ( 27398128 )
2015
31
Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. ( 25633053 )
2015
32
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. ( 25613104 )
2015
33
Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome. ( 25674389 )
2015
34
A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome. ( 26592841 )
2015
35
Brain responses to sexual images in 46,XY women with complete androgen insensitivity syndrome are female-typical. ( 25284435 )
2014
36
Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report. ( 24715185 )
2014
37
Comment on "complete androgen insensitivity syndrome: optimizing diagnosis and management". ( 24949207 )
2014
38
Complete androgen insensitivity syndrome with a large gonadal serous papillary cystadenofibroma. ( 25191030 )
2014
39
Response to: Comment on "Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management". ( 25574409 )
2014
40
A case of complete androgen insensitivity syndrome: genetic analysis of the family. ( 25404833 )
2014
41
Diagnostic laparoscopy in a twelve year old girl with right iliac fossa pain: A life changing diagnosis of complete androgen insensitivity syndrome. ( 24995665 )
2014
42
Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome. ( 25395750 )
2014
43
A Novel Mutation (c.2735_2736delTC) in the Androgen Receptor Gene in 46,XY Females with Complete Androgen Insensitivity Syndrome in an Egyptian Family. ( 25034089 )
2014
44
Bilateral laparoscopic gonadectomy in a patient with complete androgen insensitivity syndrome and bilateral sertoli-leydig cell tumor: a case report and brief review of the literature. ( 25032133 )
2014
45
Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. ( 25170741 )
2014
46
Neural Activation During Mental Rotation in Complete Androgen Insensitivity Syndrome: the Influence of Sex Hormones and Sex Chromosomes. ( 25452569 )
2014
47
Complete androgen insensitivity syndrome in three sisters. ( 24520507 )
2014
48
A large seminoma occurring 20A years after diagnosis of complete androgen insensitivity syndrome: A case report. ( 24371685 )
2013
49
Complete androgen insensitivity syndrome: a rare case of disorder of sex development. ( 23533861 )
2013
50
Complete androgen insensitivity syndrome with persistent mA1llerian remnants. A case report. ( 22682968 )
2013
51
L712V mutation in the androgen receptor gene causes complete androgen insensitivity syndrome due to severe loss of androgen function. ( 24055831 )
2013
52
Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. ( 23533290 )
2013
53
A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family. ( 24229697 )
2013
54
Genetic analysis of a family with complete androgen insensitivity syndrome. ( 24339553 )
2013
55
Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. ( 24119655 )
2013
56
Complete Androgen Insensitivity Syndrome with a Sertoli-Leydig Cell Tumor. ( 24333107 )
2013
57
Complete androgen insensitivity syndrome and discordant MA1llerian remnants: two cases with novel mutation in the androgen receptor. ( 23729616 )
2013
58
Sexual Life and Sexual Wellness in Individuals with Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-KA1ster-Hauser Syndrome (MRKHS). ( 24165016 )
2013
59
Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology. ( 24186138 )
2013
60
Screening for complete androgen insensitivity syndrome in girls with inguinal hernia: parental insight. ( 23418035 )
2013
61
Complete androgen insensitivity syndrome associated with bilateral Sertoli cell adenomas and paratesticular leiomyomas: case report and review of the literature. ( 22819761 )
2013
62
Role of imaging in the diagnosis and management of complete androgen insensitivity syndrome in adults. ( 23762728 )
2013
63
A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. ( 22943730 )
2012
64
A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome. ( 22487869 )
2012
65
The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome. ( 22517520 )
2012
66
XY Female with Complete Androgen Insensitivity Syndrome with Bilateral Inguinal Hernia. ( 24293881 )
2012
67
Umbilical KeyPort bilateral laparoscopic orchiectomy in patient with complete androgen insensitivity syndrome. ( 23131511 )
2012
68
Complete androgen insensitivity syndrome. ( 24293884 )
2012
69
A novel nonsense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome. ( 21757511 )
2012
70
Novel androgen receptor gene mutation in patient with complete androgen insensitivity syndrome. ( 22608796 )
2012
71
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. ( 22211628 )
2012
72
A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation. ( 23329762 )
2012
73
Ultrasound findings in a rare case of inguinal testicular torsion in a female with complete androgen insensitivity syndrome. ( 21998027 )
2012
74
Hormonal management of complete androgen insensitivity syndrome from adolescence onward. ( 22156544 )
2011
75
A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. ( 20888558 )
2011
76
Androgen-dependent measurements of female genitalia in women with complete androgen insensitivity syndrome. ( 21197679 )
2011
77
Gonadal structures in a fetus with complete androgen insensitivity syndrome and persistent MA1llerian derivatives: comparison with normal fetal development. ( 20971460 )
2011
78
Male gender identity in complete androgen insensitivity syndrome. ( 20358272 )
2011
79
Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family. ( 21710452 )
2011
80
Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. ( 20719566 )
2011
81
Complete androgen insensitivity syndrome with microtia: a rare presentation. ( 21264665 )
2011
82
The case reported as bilateral Sertoli-Leydig cell tumors in a 61-year-old woman with uterine aplasia may instead represent complete androgen insensitivity syndrome. ( 21623193 )
2011
83
A novel androgen receptor gene mutation in a Chinese patient with complete androgen insensitivity syndrome. ( 20833465 )
2010
84
Disorders of sexual differentiation: surgical challenges of vaginal reconstruction in complete androgen insensitivity syndrome (CAIS). ( 20336898 )
2010
85
Torsion of the testicle in a patient with complete androgen insensitivity syndrome. ( 20701524 )
2010
86
[A novel deletion mutation in AR gene causes complete androgen insensitivity syndrome in a Chinese family]. ( 21154321 )
2010
87
A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome. ( 19815331 )
2010
88
Familial complete androgen insensitivity syndrome with prostatic tissue and seminal vesicles. ( 20602105 )
2010
89
S578N mutation of the androgen receptor in an adolescent with complete androgen insensitivity syndrome. ( 20819612 )
2010
90
Female pattern hair loss in complete androgen insensitivity syndrome. ( 20128792 )
2010
91
Gender outcome in 46,XY complete androgen insensitivity syndrome: comment on T'Sjoen et al. (2010). ( 20552263 )
2010
92
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. ( 19463997 )
2010
93
Case of sisters with complete androgen insensitivity syndrome and discordant MA1llerian remnants. ( 18930210 )
2009
94
Apparent male gender identity in a patient with complete androgen insensitivity syndrome. ( 19636694 )
2009
95
Concerns regarding gender change to male in a 46,XY child with complete androgen insensitivity syndrome: comment on Kulshreshtha et al. (2009). ( 19705270 )
2009
96
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. ( 19023143 )
2009
97
[Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family]. ( 19953479 )
2009
98
A case of complete androgen insensitivity syndrome presenting with incarcerated inguinal hernia: an immunohistochemical study. ( 19539906 )
2009
99
Body composition and metabolic profile in women with complete androgen insensitivity syndrome. ( 19752598 )
2009
100
A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family. ( 17714709 )
2008
101
Familial complete androgen insensitivity syndrome (Morris syndrome or testicular feminization syndrome) in 2 sisters. ( 18418092 )
2008
102
[Complete androgen insensitivity syndrome: a novel mutation in a Tunisian family]. ( 18462702 )
2008
103
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. ( 18577874 )
2008
104
Complete androgen insensitivity syndrome--a review. ( 19064222 )
2008
105
Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. ( 18097502 )
2008
106
Complete Androgen Insensitivity Syndrome. ( 18760072 )
2008
107
Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. ( 18463105 )
2008
108
Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. ( 17449508 )
2007
109
Conjunctival mucin deficiency in complete androgen insensitivity syndrome (CAIS). ( 17120009 )
2007
110
Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor. ( 17852420 )
2007
111
Puberty in subjects with complete androgen insensitivity syndrome. ( 16491011 )
2006
112
Complete androgen insensitivity syndrome in a black South African family: a clinical and molecular investigation. ( 17229664 )
2006
113
A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia. ( 16582414 )
2006
114
Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. ( 16604972 )
2006
115
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome. ( 16470553 )
2006
116
Complete androgen insensitivity syndrome in an X Y female. ( 16899193 )
2006
117
R831X mutation of the androgen receptor gene in an adolescent with complete androgen insensitivity syndrome and bilateral testicular hamartomata. ( 16950754 )
2006
118
An uncommon large deletion in the androgen-receptor gene in a XY female with complete androgen insensitivity syndrome. ( 16794370 )
2006
119
Testicular development in the complete androgen insensitivity syndrome. ( 16400621 )
2006
120
Complete androgen insensitivity syndrome with persistent Mullerian derivatives: a case report. ( 16091340 )
2005
121
Leydig cell tumor in an elderly patient with complete androgen insensitivity syndrome. ( 15721441 )
2005
122
Treatment dilemmas after gonadectomy in complete androgen insensitivity syndrome. ( 16263555 )
2005
123
Complete androgen insensitivity syndrome: the role of the endocrine surgeon. ( 15869141 )
2005
124
Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene. ( 15813610 )
2005
125
Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome. ( 14974091 )
2004
126
Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome. ( 15531547 )
2004
127
Distributional map of the terminal and sub-terminal sugar residues of the glycoconjugates in the prepubertal and postpubertal testis of a subject affected by complete androgen insensitivity syndrome (Morris's syndrome): lectin histochemical study. ( 14702164 )
2004
128
Is complete androgen insensitivity syndrome associated with alterations in the meibomian gland and ocular surface? ( 12883343 )
2003
129
Psychological outcomes and gender-related development in complete androgen insensitivity syndrome. ( 12710824 )
2003
130
Bridging structural biology and genetics by computational methods: an investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome. ( 14635106 )
2003
131
Complete androgen insensitivity syndrome due to X chromosome inversion: a clinical report. ( 12838569 )
2003
132
Sexual function in women with complete androgen insensitivity syndrome. ( 12849818 )
2003
133
Bilateral orchiectomy for the surgical treatment of complete androgen insensitivity syndrome: patient outcome after 1 year of follow-up. ( 12855103 )
2003
134
Novel point mutations in complete androgen insensitivity syndrome with incomplete mA1llerian regression: two Taiwanese patients. ( 13680382 )
2003
135
Long-term perspectives for 46,XY patients affected by complete androgen insensitivity syndrome or congenital micropenis. ( 12428209 )
2002
136
Characterization of a novel receptor mutation A->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis. ( 11744994 )
2002
137
Persistence of MA1llerian remnants in complete androgen insensitivity syndrome. ( 12503865 )
2002
138
Transition C2718T in the AR gene, resulting in generation of a termination codon and truncated form of the androgen receptor, causes complete androgen insensitivity syndrome. ( 12084976 )
2002
139
Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization. ( 12213902 )
2002
140
Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins. ( 11889162 )
2002
141
Complete androgen insensitivity syndrome: effect on human meibomian gland secretions. ( 12470144 )
2002
142
Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma. ( 11293168 )
2001
143
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. ( 11600534 )
2001
144
A 19 year old with complete androgen insensitivity syndrome and juvenile fibroadenoma of the breast. ( 11843857 )
2001
145
Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome. ( 11380707 )
2001
146
Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. ( 10946863 )
2000
147
Hamartoma in a pubertal patient with complete androgen insensitivity syndrome and R(831)X mutation of the androgen receptor gene. ( 10899520 )
2000
148
Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome. ( 10834333 )
2000
149
A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome. ( 10599549 )
1999
150
A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome. ( 11225909 )
1999
151
Bilateral MA1llerian duct remnants. A scanning electron microscope study in a case of complete androgen insensitivity syndrome. ( 15512392 )
1999
152
A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred. ( 10323385 )
1999
153
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. ( 9610419 )
1998
154
Altered bone mineral density in patients with complete androgen insensitivity syndrome. ( 9973670 )
1998
155
Shortage of glutamine (CAG) homopolymeric repeats suppresses the expression of the androgen receptor in familial cases with complete androgen insensitivity syndrome. ( 9526703 )
1998
156
A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome. ( 9554754 )
1998
157
Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women. ( 9252933 )
1997
158
DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome. ( 9255042 )
1997
159
Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. ( 9328206 )
1997
160
A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and Sertoli cell tumor. ( 9332480 )
1997
161
Laparoscopic gonadectomy in a woman with complete androgen insensitivity syndrome. ( 9050649 )
1996
162
Successful diagnosis and surgical laparoscopic treatment of a woman with complete androgen insensitivity syndrome. ( 9132308 )
1996
163
Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: functional analysis of the mutant receptor. ( 7649349 )
1995
164
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. ( 7537149 )
1995
165
An unusual presentation of complete androgen insensitivity syndrome in general practice. ( 7715876 )
1995
166
Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene. ( 7641413 )
1995
167
Premature termination mutation (772Glu-->stop) in the hormone-binding domain of the androgen receptor in a patient with the receptor-negative form of complete androgen insensitivity syndrome. ( 8574287 )
1995
168
Laparoscopic gonadectomy in complete androgen insensitivity syndrome. ( 9050539 )
1994
169
Gonadotropin regulation during puberty in complete androgen insensitivity syndrome with testicles in situ. ( 7698719 )
1994
170
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. ( 8096390 )
1993
171
An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome. ( 8103398 )
1993
172
A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome. ( 8224266 )
1993
173
Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS). ( 1487249 )
1992
174
A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome. ( 1426313 )
1992
175
A single amino acid substitution (Met-786-->Val) in the steroid- binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. ( 1569163 )
1992
176
MA1llerian remnants in complete androgen insensitivity syndrome. ( 1358839 )
1992
177
Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. ( 3186717 )
1988
178
The modulating effect of estrogens on luteinizing hormone release in complete androgen insensitivity syndrome before and after gonadectomy and cyclic steroid application. ( 2444447 )
1987
179
Failure of the mA1llerian regression factor in two patients with complete androgen insensitivity syndrome. ( 3118446 )
1987
180
The presence of MA1llerian remnants in the complete androgen insensitivity syndrome: a steroid hormone-mediated defect? ( 3753943 )
1986
181
Complete androgen insensitivity syndrome characterized by increased concentration of a normal androgen receptor in genital skin fibroblasts. ( 3088020 )
1986

Variations for Complete Androgen Insensitivity Syndrome

Expression for Complete Androgen Insensitivity Syndrome

Search GEO for disease gene expression data for Complete Androgen Insensitivity Syndrome.

Pathways for Complete Androgen Insensitivity Syndrome

GO Terms for Complete Androgen Insensitivity Syndrome

Cellular components related to Complete Androgen Insensitivity Syndrome according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.76 IGF2 IGFBP2 IGFBP3 LYVE1 MUC1 MUC5AC
2 extracellular region GO:0005576 9.28 ALPPL2 CGA IGF2 IGFBP2 IGFBP3 MUC1
3 Golgi lumen GO:0005796 9.13 CGA MUC1 MUC5AC

Biological processes related to Complete Androgen Insensitivity Syndrome according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of activated T cell proliferation GO:0042104 9.37 IGF2 IGFBP2
2 positive regulation of MAPK cascade GO:0043410 9.33 AR IGF2 IGFBP3
3 sex differentiation GO:0007548 9.32 AR SRY
4 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.26 AR IGFBP3
5 prostate gland growth GO:0060736 8.96 AR CYP19A1
6 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 8.62 IGFBP2 IGFBP3

Molecular functions related to Complete Androgen Insensitivity Syndrome according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 9.32 AR SHBG
2 insulin-like growth factor binding GO:0005520 9.26 IGFBP2 IGFBP3
3 insulin-like growth factor I binding GO:0031994 9.16 IGFBP2 IGFBP3
4 insulin-like growth factor II binding GO:0031995 8.96 IGFBP2 IGFBP3
5 androgen binding GO:0005497 8.62 AR SHBG

Sources for Complete Androgen Insensitivity Syndrome

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