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Complete androgen insensitivity syndrome

Asta Literature Retrieval: Pathophysiology and clinical mechanisms of Complete androgen insensitivity syndrome. Core disease mechanisms, molecul...

2026-05-10
Asta MONDO:0021023 Model: Asta Scientific Corpus Retrieval 20 citations

Asta Literature Retrieval: Pathophysiology and clinical mechanisms of Complete androgen insensitivity syndrome. Core disease mechanisms, molecul...

This report is retrieval-only and is generated directly from Asta results.

  • Papers retrieved: 20
  • Snippets retrieved: 20

Relevant Papers

[1] Phenotypic and molecular characteristics of androgen insensitivity syndrome patients

  • Authors: Shimin Yuan, Ya-Nan Zhang, J. Du, Wen Li, C. Tu et al.
  • Year: 2018
  • Venue: Asian Journal of Andrology
  • URL: https://www.semanticscholar.org/paper/44a0ebbf510a1f0d97912e5814e737f441017d73
  • DOI: 10.4103/aja.aja_17_18
  • PMID: 29785970
  • PMCID: 6116692
  • Citations: 21
  • Summary: The spectrum of AR gene mutations is expanded and the usefulness ofAR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening is confirmed.
  • Evidence snippets:
  • Snippet 1 (score: 0.480) > Androgen insensitivity syndrome (AIS; OMIM# 300068) is a common 46,XY disorder of sex development (DSD) resulting from complete or partial resistance to the biological actions of androgens. Affected individuals typically exhibit inguinal swelling during infancy or primary amenorrhea during puberty. 1 According to the degree of androgen responsiveness, AIS presents with a broad spectrum of defects in the external genitalia and can be subdivided into three phenotypes: complete androgen insensitivity syndrome (CAIS) with typical female external genitalia, partial androgen insensitivity syndrome (PAIS) with predominantly male or ambiguous external genitalia, and mild androgen insensitivity syndrome (MAIS) with typical male external genitalia or an isolated micropenis, but with gynecomastia at puberty and infertility in adulthood. 2 Of these categories, CAIS is the classic manifestation of AIS. The clinical diagnosis of CAIS is typically based on primary amenorrhea at puberty or inguinal hernia and labial swelling in a female infant with a 46,XY karyotype. 1 A pathogenic mutation of the androgen receptor gene (AR; OMIM# 313700) is the only established molecular cause of the X-linked recessive inherited disease. > The AR gene is located on chromosome Xq11-12 and contains eight exons that encode a protein of 920 amino acid residues. This protein functions as a steroid hormone-activated transcription factor and contains four major functional domains: the N-terminal

[2] Novel compound variants of the AR and MAP3K1 genes are related to the clinical heterogeneity of androgen insensitivity syndrome

  • Authors: Yiping Cheng, Yan Sun, Y. Ji, Dongqing Jiang, Guoxin Teng et al.
  • Year: 2020
  • Venue: Bioscience Reports
  • URL: https://www.semanticscholar.org/paper/2b9b4c76dc7fafdafac1bbde29d6a89cb4e457e1
  • DOI: 10.1042/BSR20200616
  • PMID: 32338288
  • PMCID: 7953519
  • Citations: 7
  • Summary: The phenotype of the patient with AIS may be caused by defects in both the AR and MAP3K1 signaling pathways, and whole-exome sequencing might reveal genetic variants that explain the heterogeneity of AIS.
  • Evidence snippets:
  • Snippet 1 (score: 0.473) > gene might act as a genetic modifier of the phenotype, as the patient has rudimentary Müllerian structures, which is uncommon in AIS. Therefore, we consider that the two pathogenic variants are the cause of AIS and that they are the exclusive causative agents of the phenotype of the described patient. Moreover, the confirmation of an AIS diagnosis by WES can reveal additional genetic variants to explain the heterogeneity of the disease. > AIS is highly heterogeneous and divided into three categories according to the degree of genital masculinization: mild androgen insensitivity syndrome (MAIS), partial androgen insensitivity syndrome (PAIS) and complete androgen insensitivity syndrome (CAIS). The clinical phenotypes range from a typical male habitus with mild spermatogenic defects and reduced secondary terminal hair to a full female habitus despite the presence of a Y chromosome. The correlation of genotype and phenotype has not yet been established. > AIS is a congenital disorder in which a defect in the AR gene leads to cellular resistance to androgens. More than 1000 AIS-causing mutations in the AR gene have been identified [24]. The types of AR gene variants include gene deletions, splice site mutations, premature stop codons and missense mutations, among others. The most common genetic abnormalities are missense mutations, which often occur in two important segments of the receptor protein: the DBD and LDB regions. Missense mutations that result in a single amino acid substitution are known to produce the most phenotypic diversity. > There are at least five potential mechanisms by which AR variants reduce or abolish AR function (Figure 6): androgen and AR binding disorders, androgen-AR complex and DNA-binding disorders, truncated AR proteins, altered ligand specificity and defective signal transduction downstream of AR. Impairment in androgen or DNA binding is the most common mechanism [25,26]. First, exons 5-8 and part of exon 4 encode the LBD, which includes residues 664-920 [27], and variants that cause androgen-AR-binding disorders are commonly reported in exons 4-8 [28,[29][30][31].

[3] [Somatic mutations in the androgen receptor gene as the cause of androgen insensitivity syndrome].

  • Authors: N. Kalinchenko, A. A. Kolodkina, V. Petrov, E. V. Vasiliev, A. Tiulpakov
  • Year: 2019
  • Venue: Problemy endokrinologii
  • URL: https://www.semanticscholar.org/paper/85dfb56e658632c648c25d9ba3e79714f2653af1
  • DOI: 10.14341/PROBL10166
  • PMID: 32202729
  • Citations: 1
  • Summary: The phenotypic and molecular genetic characteristics of eight patients with various forms of androgen insensitivity syndrome caused by somatic mutations in the AR gene are described.
  • Evidence snippets:
  • Snippet 1 (score: 0.466) > Androgen insensitivity syndrome is an X-linked disorder characterized by either complete or partial insensitivity of target tissues to androgens. This disease is caused by mutations in the AR gene located on the Х chromosome. Currently, there are no distinct clinical, biochemical, or hormonal markers that would allow one to differentiate androgen insensitivity syndrome from a number of other forms of 46,XY disorders of sex development. Therefore, final verification of this condition is based on the results of molecular genetic tests. Although more than 1,000 point mutations in the AR gene have been reported, somatic mutations in this gene have been described rather rarely. However, this very type of mutations makes the course of this disease difficult to predict, since various cells in the human body contain both normal and mutant receptors. Somatic mosaicism can cause spontaneous masculization during puberty in individuals born with a completely normal female phenotype. In this case report, we describe the phenotypic and molecular genetic characteristics of eight patients with various forms of androgen insensitivity syndrome caused by somatic mutations in the AR gene.

[4] The role of androgens and global and tissue-specific androgen receptor expression on body composition, exercise adaptation, and performance

  • Authors: Sabrina Tzivia Barsky, D. A. Monks
  • Year: 2025
  • Venue: Biology of Sex Differences
  • URL: https://www.semanticscholar.org/paper/7426826fc1f798d8afecfd9acef3bb3272f5eb79
  • DOI: 10.1186/s13293-025-00707-6
  • PMID: 40269952
  • PMCID: 12016402
  • Citations: 10
  • Summary: The understood mechanisms of action of AR and its interactions with exercise, specifically on outcomes of body composition and muscle function, and the global- and tissue-specific role of AR in regulating skeletal muscle, adipose, and bone morphology are summarized.
  • Evidence snippets:
  • Snippet 1 (score: 0.452) > Clinical observations of androgen insensitivity syndrome were first presented by Morris in 1953 [162] (then described as testicular feminization) in humans, and later in rats [163] and mice [33]. Cases of androgen insensitivity can be classified as complete, partial, or mild, and diagnoses are made by observation of female external genitalia in a XY karyotype male fetus (ie., complete androgen insensitivity), gynecomastia and atypical genitalia at puberty (ie., partial androgen insensitivity), or unaffected genitalia yet presence of male infertility (ie., mild androgen insensitivity). Complete androgen insensitivity was discovered and propagated in a substrain of rats, lending an in vivo model to study the molecular underpinnings of androgen insensitivity and the influence of lost AR function on sex development, aptly named the testicular feminized (Tfm) rat. Tfm males develop testes, which remain undescended in the inguinal canal, appearing to have immature Sertoli cells limiting the progression of spermatogenesis [164] and hyperplasia of Leydig cells allowing for normal to excess androgen production [165]. Additionally, Tfm males do not develop male accessory sex organs (ie., prostate, epididymis, ductus deferens, seminal vesicles). Studies attempting to identify mechanisms of androgen insensitivity in the Tfm rat revealed that cytoplasmic AR was decreased in target organs [166,167] and had reduced binding capacity for androgens [168], which resulted from a single base mutation in the AR gene [169]. The limitations in the Tfm model included male sterility and no opportunity to study females with complete aberrant AR function, as female carriers of Tfm are genetic mosaics for androgen insensitivity [170]. This brought forth the production of the androgen receptor knockout mouse (ARKO) [68].

[5] Identification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis

  • Authors: Yajie Peng, Hui Zhu, B. Han, Yue Xu, Xuemeng Liu et al.
  • Year: 2021
  • Venue: Frontiers in Endocrinology
  • URL: https://www.semanticscholar.org/paper/10bfaf772debd7b833a9c0a820696d4329d5881e
  • DOI: 10.3389/fendo.2021.731107
  • PMID: 34867780
  • PMCID: 8637961
  • Citations: 4
  • Summary: Light is shed on the molecular mechanisms underlying the pathogenesis and progression of AIS, providing potential targets for diagnosis and future investigation and manual screening of tissue-specific gene expression.
  • Evidence snippets:
  • Snippet 1 (score: 0.434) > Background Androgen insensitivity syndrome (AIS) is a rare X-linked genetic disease and one of the causes of 46,XY disorder of sexual development. The unstraightforward diagnosis of AIS and the gender assignment dilemma still make a plague for this disorder due to the overlapping clinical phenotypes. Methods Peripheral blood mononuclear cells (PBMCs) of partial AIS (PAIS) patients and healthy controls were separated, and RNA-seq was performed to investigate transcriptome variance. Then, tissue-specific gene expression, functional enrichment, and protein–protein interaction (PPI) network analyses were performed; and the key modules were identified. Finally, the RNA expression of differentially expressed genes (DEGs) of interest was validated by quantitative real-time PCR (qRT-PCR). Results In our dataset, a total of 725 DEGs were captured, with functionally enriched reproduction and immune-related pathways and Gene Ontology (GO) functions. The most highly specific systems centered on hematologic/immune and reproductive/endocrine systems. We finally filtered out CCR1, PPBP, PF4, CLU, KMT2D, GP6, and SPARC by the key gene clusters of the PPI network and manual screening of tissue-specific gene expression. These genes provide novel insight into the pathogenesis of AIS in the immune system or metabolism and bring forward possible molecular markers for clinical screening. The qRT-PCR results showed a consistent trend in the expression levels of related genes between PAIS patients and healthy controls. Conclusion The present study sheds light on the molecular mechanisms underlying the pathogenesis and progression of AIS, providing potential targets for diagnosis and future investigation.

[6] Genotype and phenotype of Vietnamese patients with androgen insensitivity syndrome

  • Authors: V. Dũng, M. Fukami, C. T. B. Ngọc, Bùi Phương Thảo, N. Khánh et al.
  • Year: 2013
  • Venue: International Journal of Pediatric Endocrinology
  • URL: https://www.semanticscholar.org/paper/b0aa73b6d8e6147c51f4c4346817d70c4db38af6
  • DOI: 10.1186/1687-9856-2013-S1-P194
  • PMCID: 3850449
  • Summary: Five different mutations of AR were identified from 7 cases of 3 unrelated families including three novel ones and two reported mutation in the AR gene that may provide new insights into the molecular mechanisms of AIS.
  • Evidence snippets:
  • Snippet 1 (score: 0.427) > Androgen insensitivity syndrome (AIS) is the most common specific cause of 46,XY disorder in sex development. The androgen signaling pathway is complex but so far, the only gene linked with AIS is the androgen receptor (AR). Mutations in the AR are found in most subjects with complete AIS but in partial AIS, the rate has varied 28–73%, depending on the case selection. More than over 800 entries of mutations causing AIS, representing over 500 different AR mutations from more than 850 patients with AIS have been reported. We aim to describe clinical manifestations and to identify mutation of AR in Vietnamese patients with AIS. > This case series study included 12 patients from 9 unrelated families with AIS. The gonadal position and external genitalia were evaluated clinicaly and using ultrasound. The mutation analysis of AR was performed using PCR and direct sequencing. > The age of diagnosis was 1 to 83 years old. 8/12 cases were complete androgen insensitivity syndrome (CAIS) (female external genitalia) and 4 cases were predominantly female partial AIS phenotype. Four cases had two labial testes, six cases had inguinal testes and 2 cases had abdominal testes. Five different mutations of AR were identified from 7 cases of 3 unrelated families including three novel ones. The novel missense mutation p.L701F (c.2103G>T) was identified in a patient of 83 year of age. The novel missense mutation p.L705F (c.2113C>T) was identified in two sibs. The novel mutation p. W752S (c. 2256 G>T) was identified in a child with CAIS phenotype and had family history. The reported missense mutation p.V747M was identified in two sibs. The reported mutation p.V867M (c.2599 G>A) was identified in a child with female phenotype. > Our study identified three novel and two reported mutation in the AR gene that may provide us new insights into the molecular mechanisms of AIS. The expanded database of these mutations should benefit patients in the diagnosis and treatment of this syndrome.

[7] An exposition on complete androgen insensitivity syndrome and a case report

[8] Complexities of complete androgen insensitivity syndrome: insights from a case report and literature review

  • Authors: E. Asanidze, Jenaro Kristesashvili, Aleksandre Asanidze, A. Jibladze, Giorgi Gaphrindashvili et al.
  • Year: 2024
  • Venue: The Journal of International Medical Research
  • URL: https://www.semanticscholar.org/paper/93c78b9dcfb14ce1a50ed9471967c8f0322cff20
  • DOI: 10.1177/03000605241300058
  • PMID: 39600030
  • PMCID: 11603565
  • Citations: 7
  • Influential citations: 1
  • Summary: This retrospective case report analyzes the clinical data, genetic testing, hormonal profiling, and imaging studies of a patient who was initially misdiagnosed during hernioplasty and later misidentified as having Mayer-Rokitansky-Küster-Hauser syndrome to highlight the necessity of a multidisciplinary approach to managing CAIS.
  • Evidence snippets:
  • Snippet 1 (score: 0.415) > Complexities of complete androgen insensitivity syndrome: insights from a case report and literature review

[9] Network analysis of an in vitro model of androgen-resistance in prostate cancer

  • Authors: S. Detchokul, Aparna Elangovan, E. Crampin, Melissa J. Davis, A. Frauman
  • Year: 2015
  • Venue: BMC Cancer
  • URL: https://www.semanticscholar.org/paper/b1ceea1ad550c95910c1b68491f4fb638c8aedd3
  • DOI: 10.1186/s12885-015-1884-7
  • PMID: 26553226
  • PMCID: 4640359
  • Citations: 6
  • Summary: An in vitro model of androgen-resistance is developed to characterise molecular changes occurring as androgen resistance evolves over time and reveals several potential mechanisms and network interactions, including cooperative behaviours of other nuclear receptors, in particular the subfamily of steroid hormone receptors such as PGR and alteration to gene expression in both the MAPK and PI3K-Akt signalling pathways.
  • Evidence snippets:
  • Snippet 1 (score: 0.413) > We used a published clinical dataset [10] to determine whether our cell line model of androgen insensitivity displays molecular features in common with human disease. We found 213 genes were differentially expressed in both experiments. This highlights that while there are definite differences in the molecular phenotypes of our data, our model nonethe-less recapitulates molecular features found in advanced human disease. We also examined the pathways that are enriched for differentially expressed genes in each experiment, and found that differential expression in both datasets converged at the pathway level (full results Additional file 1: Table S1 and S2); in particular, two related pathways, MAPK and PI3K signalling are both strongly implicated by the differentially expressed genes of both datasets. Previous reports adopting disease-associated gene network and pathway analyses in PCa have revealed novel regulatory mechanisms and were more powerful than the analysis of gene expression level alone [20][21][22][23][24].

[10] Androgen Receptor Signaling in Prostate Cancer and Therapeutic Strategies

  • Authors: Aasems Jacob, Rishi Raj, Derek B. Allison, Zin W. Myint
  • Year: 2021
  • Venue: Cancers
  • URL: https://www.semanticscholar.org/paper/93d425f8fbbccd8b90f442fbef73e8e7508c3ee3
  • DOI: 10.3390/cancers13215417
  • PMID: 34771580
  • PMCID: 8582395
  • Citations: 105
  • Influential citations: 3
  • Summary: This review article details the current evidence on clinically relevant driver mechanisms, relevant biomarkers, and treatment modalities to overcome resistance of androgen receptor (AR) in prostate cancer.
  • Evidence snippets:
  • Snippet 1 (score: 0.409) > Simple Summary Early-stage and castration-sensitive prostate cancer (PCa) growth is solely mediated by androgen signaling pathways. AR signaling inhibitors (ARSIs) have significantly improved clinical outcomes among men with PCa. In the metastatic castration-resistant PCa, there is presence of both androgen-dependent and androgen-independent cells driving the tumor growth. Despite the use of ARSIs, disease progression ultimately occurs in all patients with PCa and is due to genetic alterations in ARs, resulting in the outgrowth of androgen-independent cells. The possible mechanisms include development of AR splice variants of which AR-V7 is more common, AR point mutations, and AR overexpression. In addition, restoration of downstream signaling through alternate pathways can also lead to androgen-independent growth of PCa. Therapeutic strategies to overcome these resistance mechanisms and establish predictive biomarkers are still in clinical trials. This review article details the current evidence on clinically relevant driver mechanisms, relevant biomarkers, and treatment modalities to overcome resistance. Abstract Understanding of the molecular mechanisms of prostate cancer has led to development of therapeutic strategies targeting androgen receptor (AR). These androgen-receptor signaling inhibitors (ARSI) include androgen synthesis inhibitor-abiraterone and androgen receptor antagonists-enzalutamide, apalutamide, and darolutamide. Although these medications provide significant improvement in survival among men with prostate cancer, drug resistance develops in nearly all patients with time. This could be through androgen-dependent or androgen-independent mechanisms. Even weaker signals and non-canonical steroid ligands can activate AR in the presence of truncated AR-splice variants, AR overexpression, or activating mutations in AR. AR splice variant, AR-V7 is the most studied among these and is not targeted by available ARSIs. Non-androgen receptor dependent resistance mechanisms are mediated by activation of an alternative signaling pathway when AR is inhibited. DNA repair pathway, PI3K/AKT/mTOR pathway, BRAF-MAPK and Wnt signaling pathway and activation by glucocorticoid receptors can restore downstream signaling in prostate cancer by alternative proteins. Multiple clinical trials are underway exploring therapeutic strategies to overcome these resistance mechanisms.

[11] Do Androgens Modulate the Pathophysiological Pathways of Inflammation? Appraising the Contemporary Evidence

  • Authors: A. Traish, J. Bolanos, S. Nair, F. Saad, A. Morgentaler
  • Year: 2018
  • Venue: Journal of Clinical Medicine
  • URL: https://www.semanticscholar.org/paper/bd2b08e1b03260eb1c0af1f2b650f0390775b18e
  • DOI: 10.3390/jcm7120549
  • PMID: 30558178
  • PMCID: 6306858
  • Citations: 134
  • Influential citations: 3
  • Summary: It is suggested that testosterone therapy attenuates the inflammatory process and reduces the burden of disease by mechanisms inhibiting inflammatory cytokine expression and function.
  • Evidence snippets:
  • Snippet 1 (score: 0.406) > The role of testosterone in the pathophysiology of inflammation is of critical clinical importance; however, no universal mechanism(s) has been advanced to explain the complex and interwoven pathways of androgens in the attenuation of the inflammatory processes. PubMed and EMBASE searches were performed, including the following key words: “testosterone”, “androgens”, “inflammatory cytokines”, “inflammatory biomarkers” with focus on clinical studies as well as basic scientific studies in human and animal models. Significant benefits of testosterone therapy in ameliorating or attenuating the symptoms of several chronic inflammatory diseases were reported. Because anti–tumor necrosis factor therapy is the mainstay for the treatment of moderate-to-severe inflammatory bowel disease; including Crohn’s disease and ulcerative colitis, and because testosterone therapy in hypogonadal men with chronic inflammatory conditions reduce tumor necrosis factor-alpha (TNF-α), IL-1β, and IL-6, we suggest that testosterone therapy attenuates the inflammatory process and reduces the burden of disease by mechanisms inhibiting inflammatory cytokine expression and function. Mechanistically, androgens regulate the expression and function of inflammatory cytokines, including TNF-α, IL-1β, IL-6, and CRP (C-reactive protein). Here, we suggest that testosterone regulates multiple and overlapping cellular and molecular pathways involving a host of immune cells and biochemical factors that converge to contribute to attenuation of the inflammatory process.

[12] [Complete androgen insensitivity syndrome].

[13] The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene

  • Authors: S. Mauri, Javier Nieto‐Moragas, María Obón, Josep Oriola
  • Year: 2023
  • Venue: JCEM Case Reports
  • URL: https://www.semanticscholar.org/paper/c235337d68758a5c0be34cf84b2574c0f34cc1e5
  • DOI: 10.1210/jcemcr/luad153
  • PMID: 38170043
  • PMCID: 10759794
  • Citations: 5
  • Summary: A mother and her son with a mild hyperandrogenic phenotype and a novel genetic variant of the NR3C1 gene predicting a truncated protein and causing glucocorticoid resistance syndrome are described.
  • Evidence snippets:
  • Snippet 1 (score: 0.400) > Abstract Glucocorticoid resistance syndrome is a rare genetic condition characterized by generalized or partial target-tissue insensitivity to glucocorticoids and a consequent hyperactivation of the hypothalamic-pituitary-adrenal axis. Clinical manifestations may include mineralocorticoid and/or androgen excess without manifestations of Cushing syndrome. At a cellular level, glucocorticoid actions are mediated by the nuclear glucocorticoid receptor encoded by the NR3C1 gene. To date, only 33 glucocorticoid receptor loss-of-function pathogenic variants have been associated with glucocorticoid resistance syndrome. The NR3C1 gene has 2 known disease-causing mechanisms: haploinsufficiency and negative dominance. We describe a mother and her son with a mild hyperandrogenic phenotype and a novel genetic variant of the NR3C1 gene predicting a truncated protein and causing glucocorticoid resistance syndrome. To date, no accurate genotype-phenotype correlation has been found.

[14] Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

  • Authors: M. Touzon, N. Garrido, R. Marino, P. Ramírez, M. Costanzo et al.
  • Year: 2018
  • Venue: Journal of Clinical Research in Pediatric Endocrinology
  • URL: https://www.semanticscholar.org/paper/d7e11b725a46255f4237c9c85a20ff85305dac04
  • DOI: 10.4274/jcrpe.galenos.2018.2018.0185
  • PMID: 30251955
  • PMCID: 6398199
  • Citations: 20
  • Influential citations: 1
  • Summary: Improved knowledge of the components of the AR complex and signaling network might contribute to long term outcome and genetic counseling in AIS patients.
  • Evidence snippets:
  • Snippet 1 (score: 0.399) > Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

[15] Complete androgen insensitivity syndrome: a case report and literature review

  • Authors: Min Guo, Jincheng Huang, Cuiyun Li, Yan-yan Liu
  • Year: 2023
  • Venue: The Journal of International Medical Research
  • URL: https://www.semanticscholar.org/paper/cb2580d74b5059c07d657b5a92eeefeeced3f6ab
  • DOI: 10.1177/03000605231154413
  • PMID: 36851849
  • PMCID: 9983103
  • Citations: 11
  • Influential citations: 1
  • Summary: A 31-year-old phenotypically female patient with CAIS who was misdiagnosed twice previously with an inguinal hernia is described who underwent a bilateral gonadectomy and long-term hormone replacement therapy.
  • Evidence snippets:
  • Snippet 1 (score: 0.395) > Complete androgen insensitivity syndrome: a case report and literature review

[16] Complete Androgen Insensitivity Syndrome: A Case Report and Literature Review

  • Authors: Liang-min Fu, penju li, Jiefei Xiao, Junhang Luo, Wei Chen
  • Year: 2022
  • Venue: International Journal of Diabetes & Metabolic Disorders
  • URL: https://www.semanticscholar.org/paper/48a1aea99a58a9053171f3c811d41ab9724a1e4e
  • DOI: 10.33140/ijdmd.07.01.10
  • Summary: Individuals with CAIS need appropriate care from doctors and support from their families, and the diagnosis, treatment, and management of CAIS also require a multidisciplinary approach.
  • Evidence snippets:
  • Snippet 1 (score: 0.395) > Complete Androgen Insensitivity Syndrome: A Case Report and Literature Review

[17] A novel androgen resistance gene mutation (p.G590W) in complete androgen insensitivity syndrome: Emphasizing the need for early gonadectomy and integrated patient care

  • Authors: Hai-yan Sun, Xu Wang, Li-Xian Wang, Hui Zhang
  • Year: 2025
  • Venue: The Journal of International Medical Research
  • URL: https://www.semanticscholar.org/paper/3561243c5f38d987d3d1b3624d342298e4d25a47
  • DOI: 10.1177/03000605251350626
  • PMID: 40552659
  • PMCID: 12188037
  • Citations: 1
  • Summary: The case of a 30-year-old woman who was diagnosed with complete androgen insensitivity syndrome at 18 years of age during evaluation for primary amenorrhea and later presented with a palpable abdominal mass underscores the importance of genetic analysis, early prophylactic gonadectomy, and multidisciplinary care in managing complete androgen insensitivity syndrome to mitigate tumor risk and optimize outcomes.
  • Evidence snippets:
  • Snippet 1 (score: 0.393) > ][3] The AR gene encodes a nuclear receptor that is critical for mediating androgen signaling. 4 ][7] CAIS results from mutations causing complete receptor dysfunction, characterized by female external genitalia despite a 46,XY karyotype. In contrast, PAIS and MAIS involve partial receptor impairment, leading to a range of phenotypes from ambiguous genitalia (PAIS) to mild undervirilization and infertility (MAIS). Individuals with CAIS typically present with primary amenorrhea, absent or rudimentary Mu¨llerian structures, female external genitalia, and a short blind-ending vagina, with gonads frequently located intra-abdominally or in the inguinal region. 8,9 utations in the AR gene associated with CAIS are highly heterogeneous, encompassing missense, nonsense, and frameshift mutations as well as and splicesite alterations. 10 Clinical phenotypes vary considerably depending on the mutation type, with frameshift and nonsense mutations typically associated with more severe androgen insensitivity phenotypes due to complete loss of receptor function, while missense mutations may produce a spectrum of phenotypic outcomes dependent on the specific location and functional domain affected. To date, hundreds of such mutations have been documented in the Androgen Receptor Mutation Database (http://androgendb.mcgill.ca/), many of which are linked to severe androgen insensitivity phenotypes. However, novel pathogenic variants continue to be identified, underscoring the complexity of the genotype-phenotype relationships in CAIS. Characterizing these novel variants is essential for advancing our understanding of the molecular mechanisms underlying AR dysfunction and for developing improved diagnostic, prognostic, and therapeutic strategies. > A significant clinical challenge in managing CAIS is the heightened risk of gonadal germ cell tumors, 11 particularly seminomas, arising due to undescended or dysgenetic gonads. Recent systematic reviews suggest malignancy risks ranging from 15% to as high as 30% in patients with CAIS, underscoring the importance of timely prophylactic gonadectomy to prevent tumor development and progression. 12

[18] COMPLETE ANDROGEN INSENSITIVITY SYNDROME : A CASE REPPORT AND REVIEW OF LITERATURE

  • Authors: Dorkami K., B. S., Asmouki H., F. B., B. A. et al.
  • Year: 2022
  • Venue: International Journal of Advanced Research
  • URL: https://www.semanticscholar.org/paper/ed44196c8db3e521ef71754157930ea84ab588ee
  • DOI: 10.21474/ijar01/14630
  • Summary: The case of two young patients aged 23 and 21 with a TF syndrome discovered during the exploration of primary amenorrhea, with a bilateral orchiectomy was performed with institution of estrogen-progestogen hormone treatment.
  • Evidence snippets:
  • Snippet 1 (score: 0.391) > COMPLETE ANDROGEN INSENSITIVITY SYNDROME : A CASE REPPORT AND REVIEW OF LITERATURE

[19] Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome

  • Authors: Chunqing Wang, Q. Tian
  • Year: 2025
  • Venue: Frontiers in Endocrinology
  • URL: https://www.semanticscholar.org/paper/0dfa1b0b315d4c8d02b7c91c57e6c48c50cd3624
  • DOI: 10.3389/fendo.2025.1600343
  • PMID: 41163677
  • PMCID: 12558735
  • Summary: The diagnosis of CAIS after puberty is similar to the diagnostic workflow of PA with additional tests and should be differentiated with PA-related etiologies and other kinds of DSD, such as Swyer syndrome, Mayer–Rokitanskey–Küster–Haüser syndrome, Leydig cell hypoplasia, and several steroidogenic enzymatic deficiencies.
  • Evidence snippets:
  • Snippet 1 (score: 0.387) > Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome

[20] Complete androgen insensitivity syndrome: A rare case report

  • Authors: T. Kambale, P. Patel, Yaminy Ingale, C. Gore
  • Year: 2022
  • Venue: National Journal of Clinical Anatomy
  • URL: https://www.semanticscholar.org/paper/29d40247619e9781f629d528d4342fae9bd0384e
  • DOI: 10.4103/NJCA.NJCA_144_22
  • Citations: 2
  • Summary: This was a rare case of a 22-year-old female patient who presented with primary amenorrhea and increased in level of serum testosterone, follicle-stimulating hormone along with the luteinizing hormone was seen.
  • Evidence snippets:
  • Snippet 1 (score: 0.387) > Complete androgen insensitivity syndrome: A rare case report

Notes

  • This provider combines search_papers_by_relevance with snippet_search.
  • No synthesis or second-stage model call is performed.