Male Gender Identity in Complete Androgen Insensitivity Syndrome

  title={Male Gender Identity in Complete Androgen Insensitivity Syndrome},
  author={Guy T’Sjoen and Griet De Cuypere and Stanislas Monstrey and Piet Hoebeke and F. Kenneth Freedman and Mahesh Appari and Paul Martin Holterhus and John van Borsel and Martine Cools},
  journal={Archives of Sexual Behavior},
Women and girls with complete androgen insensitivity syndrome (CAIS) invariably have a female typical core gender identity. In this case report, we describe the first case of male gender identity in a CAIS individual raised female leading to complete sex reassignment involving both androgen treatment and phalloplasty. CAIS was diagnosed at age 17, based on an unambiguously female phenotype, a 46,XY karyotype, and a 2660delT androgen receptor (AR) gene mutation, leading to a premature stop in… 

Complete Androgen Insensitivity Syndrome Associated with Male Gender Identity or Female Precocious Puberty in the Same Family

Despite the common CAIS phenotype, there was a familial disparity for gender identity adequacy and timing and type of puberty.

Psychological Aspects of Androgen Insensitivity Syndrome- A Case Report

Psych evaluation and management of a case of Androgen insensitivity syndrome brought up as a female experiencing such distress, which can result in considerable psychiatric morbidity is reported here.

Gender Incongruity in a Person with 46,XY and Complete Androgen Insensitivity Syndrome Raised as a Female.

The patient has undergone bilateral orchiectomy and has initiated treatment with topical testosterone and bisphosphonates and has yet to evaluate the effects and decide the best therapy taking into account that he has a male gender identity but complete androgen insensitivity syndrome.

Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in

Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome.

The findings verified the mechanism of CAIS and also enriched AR Gene Mutation Database, which revealed two different types of AR mutation.

The XY Female: Exploring Care for Adolescent Girls with Complete Androgen Insensitivity Syndrome

  • K. Davies
  • Medicine
    Comprehensive child and adolescent nursing
  • 2019
The care and management of children and young people with a DSD and the diagnosis of CAIS in adolescence is explored, alongside sexual function, gender identity and the psychological impact of the diagnosis.

Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture

The clinical profile and results of psychological assessment of three siblings with 46, XY DSD caused by partial androgen insensitivity syndrome (PAIS) are described, finding that the elder sibling was reared as female, while the middle and youngest siblings were rearing as males.

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

Given the complexity of this management, DSD individuals and their families need to be supported by a specialized multidisciplinary team, which has been universally recognized as the best practice for intersexual conditions.



Apparent Male Gender Identity in a Patient with Complete Androgen Insensitivity Syndrome

Examination revealed acomplete female phenotype with no development of secon-darysexualcharacters(A1B1P) in this 11 year, 3 month old girl, who was the youngest of six siblings andresented a desire to live as a male at age 11 years.

Psychological Outcomes and Gender-Related Development in Complete Androgen Insensitivity Syndrome

It is suggested that psychological outcomes in women with CAIS are similar to those in other women, and additional attention to more detailed aspects of psychological well-being in CAIS is needed.

Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome.

Although not perfect, the medical, surgical, and psychosexual outcomes for women with CAIS were satisfactory; however, specific ways for improving long-term treatment of this population were identified.

Gender Dysphoria and Gender Change in Androgen Insensitivity or Micropenis

  • T. Mazur
  • Psychology
    Archives of sexual behavior
  • 2005
The best predictor of adult gender identity in CAIS, PAIS, and micropenis is initial gender assignment, and gender dysphoria also appears to be a rare occurrence.

Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome

To detect carriers of the mutation, karyotyping and study of the androgen receptor gene should be performed in girls who are first relative of the probands, although the relationship between genotype and phenotype is weak.

[Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome].

To confirm androgen insensitivity syndrome and detect carriers of the mutation, karyotyping and study of the androgen receptor gene should be performed in girls who are first relative of the probands.

Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome.

Somatic mosaicism of the AR gene can represent a substantial factor for the individual phenotype by shifting it to a higher degree of virilization than expected from the genotype of the mutant allele alone.

Clinical and Molecular Spectrum of Somatic Mosaicism in Androgen Insensitivity Syndrome

It is concluded that somatic mosaicism is of particular clinical relevance in androgen insensitivity syndrome and the possibility of functionally relevant expression of the wild-type AR needs to be considered in all mosaic individuals, and treatment should be adjusted accordingly.

Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome.

It is hypothesize that mutant receptors with residual activity in vitro respond to high local testosterone concentrations in vivo, thereby stimulating WD development, and the classification of androgen insensitivity in such patients should be considered severe rather than complete.