Long-Term Followup and Comparison Between Genotype and Phenotype in 29 Cases of Complete Androgen Insensitivity Syndrome

Cheikhelard, Alaa; Morel, Yves; Thibaud, E; Lortat-Jacob, S.; Jaubert, Françis; Polak, Michel; Nihoul‐Feketé, Claire

doi:10.1016/j.juro.2008.06.045

Cited by 80 publications

(59 citation statements)

References 19 publications

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“…In addition, very few previous reports of exon 2 deletions can be found in the AR mutation database (http://www.mcgill.ca/androgendb). Another important aspect of our study is that it shows that family studies can be easily undertaken to provide members with the information they need for family planning, which has become an increasing concern for families with AR gene mutations and members with CAIS (Fogu et al, 2003;Cheikhelard et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family

Bk¹,

Ding²,

Xd³

et al. 2011

Genet. Mol. Res.

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ABSTRACT. We studied a family with two cousins who were diagnosed with complete androgen insensitivity syndrome, an X-linked disorder caused by mutations in the androgen receptor gene. A pedigree analysis and a molecular study using PCR and DNA sequencing clarified each female family member's androgen receptor status and revealed a mutation consisting of the deletion of exon 2 and surrounding introns of the androgen receptor gene. Based on the relative nucleotide positions, we concluded that the deletion mutation in exon 2 and its surrounding introns was approximately 6000 to 7000 bp. This mutation, never previously fully characterized using DNA sequencing, was responsible for complete androgen insensitivity syndrome in this family. Pedigree analysis with a molecular study of the androgen receptor gene in affected families facilitates genetic counseling provided to family members.

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family

Bk¹,

Ding²,

Xd³

et al. 2011

Genet. Mol. Res.

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“…Cheikhelard et al in their case series of 29 patients with AIS reported that they followed up those patients from their diagnosis at childhood to adulthood [14]. These patients were all of female phenotypes and there was no report of post pubertal virilization and only one patient developed carcinoma in situ (post pubertal).…”

Section: Discussionmentioning

confidence: 99%

Androgen Insensitivity Syndrome- A Case Report

Laila¹

2015

AJCEM

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Abstract:Androgen insensitivity syndrome is a disorder where there is resistance to androgen actions influencing both the morphogenesis and differentiation of androgen responsive body structures. It occurs due to an X-linked mutation in Androgen Receptor gene. This disorder includes a spectrum of changes ranging from male infertility to completely normal female external genitalia in a chromosomally male individual. These cases need proper diagnosis and appropriate management. We report this case for its interesting presentation. The patient is a 20 year old female, presented with bilateral labial swellings and primary amenorrhoea. Subsequent investigations were done which revealed that the patient is a genetically male with absence of female internal genitalia but presence of testes. Gonadectomy was done after proper counseling and was put on hormone replacement therapy. Proper psychological support was also given to her, which is more important.

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“…RLU = Relative luciferase units. * * * p < 0.001. tients with normal or ambiguous genitalia [Dörk et al, 1998;Hiort et al, 1998;Cheikhelard et al, 2008]. The c.2083C>T nucleotide change responsible for the p.Pro695Ser mutation has not been annotated yet in the Androgen Receptor Gene Mutations Database (http:// androgendb.mcgill.ca), but it was reported as a single nucleotide variation in the NHLBI GO Exome Sequencing Project with the reference No.…”

Section: Discussionmentioning

confidence: 99%

Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor

Petroli

Hiort

Struve

et al. 2014

Sex Dev

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The androgen insensitivity syndrome (AIS) is described as a dysfunction of the androgen receptor (AR) in 46,XY individuals, which can be associated with mutations in the AR gene or can be due to unknown mechanisms. Different mutations in AIS generally cause variable phenotypes that range from a complete hormone resistance to a mild form usually associated with male infertility. The purpose of this study was to search for mutations in the AR gene in a fertile man with gynecomastia and to evaluate the influence of the mutation on the AR transactivation ability. Sequencing of the AR gene revealed the p.Pro695Ser mutation. It is located within the AR ligand-binding domain. Bioinformatics analysis indicated a deleterious role, which was verified after testing transactivation activity and N-/C-terminal (N/C) interaction by in vitro expression of a reporter gene and 2-hybrid assays. p.Pro695Ser showed low levels of both transactivation activity and N/C interaction at low dihydrotestosterone (DHT) conditions. As the ligand concentration increased, both transactivation activity and N/C interaction also increased and reached normal levels. Therefore, this study provides functional insights for the p.Pro695Ser mutation described here for the first time in a patient with mild AIS. The expression profile of p.Pro695Ser not only correlates to the patient's phenotype, but also suggests that a high-dose DHT therapy may overcome the functional deficit of the mutant AR.

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Long-Term Followup and Comparison Between Genotype and Phenotype in 29 Cases of Complete Androgen Insensitivity Syndrome

Cited by 80 publications

References 19 publications

Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family

Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family

Androgen Insensitivity Syndrome- A Case Report

Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor

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