Androgen insensitivity syndrome

@article{Hughes2012AndrogenIS,
  title={Androgen insensitivity syndrome},
  author={Ieuan A. Hughes and J. D. Davies and Trevor Bunch and Vickie Pasterski and Kiki Mastroyannopoulou and Jane Macdougall},
  journal={The Lancet},
  year={2012},
  volume={380},
  pages={1419-1428}
}

Figures from this paper

Androgen insensitivity syndrome.

The challenges of androgen insensitivity syndrome

TLDR
The diagnosis of AIS often proves to be a challenge; its management is complex and requires a multidisciplinary approach to meet decision-making challenges in sex assignment, fertility and timing of gonadectomy, psychological outcomes and genetic counselling.

Partial Androgen Insensitivity Syndrome: A rare disease

TLDR
This case is predominantly female phenotype partial androgen insensitivity and presented with primary amenorrhea.

A young infant with complete androgen insensitivity syndrome

TLDR
The diagnosis of CAIS is based on the presence of female external genitalia in an individual with 46, XY karyotype having normally developed but undescended testes and target tissue unresponsiveness to androgen.

Androgen Insensitivity Syndrome

TLDR
People with AIS range from typical female phenotype to typical male phenotype, and the incidence of AIS varies depending on population as well as its severity.

Androgen Insensitivity Syndrome

TLDR
Androgen insensitivity syndrome is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype.

Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor

TLDR
Somatic mosaicism is rare in AIS and nonsense AR variant allelic can cause partial AIS phenotype in this situation and a better testosterone response can be expected in male individuals and this should be considered in the clinical management.

Complete Androgen Insensitivity Syndrome: From Bench to Bed

TLDR
Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk).

A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation

Abstract We report a case of a 14-year-old girl with primary amenorrhea and phenotypic as well as hormonal features of complete androgen insensitivity syndrome (CAIS), who tested positive for a novel

New mutation causing androgen insensitivity syndrome – a case report and review of literature

TLDR
A 44-year old patient with complete androgen insensitivity syndrome (CAIS) initially presenting with primary amenorrhea is presented, revealing hypoplastic vagina and a lack of uterus and ovaries and an as of yet unprecedented androgen receptor mutation.
...

References

SHOWING 1-10 OF 190 REFERENCES

Androgen resistance.

  • I. HughesA. Deeb
  • Biology, Medicine
    Best practice & research. Clinical endocrinology & metabolism
  • 2006

Phenotypic diversity in siblings with partial androgen insensitivity syndrome

TLDR
A point mutation of the androgen receptor gene affecting two siblings with partial androgen insensitivity syndrome is described, and one had cliteromegaly and labial fusion and was raised as a girl, whereas the other sibling had micropenis and penoscrotal hypospadias and was raise as a boy.

Androgen insensitivity syndrome.

TLDR
The androgen insensitivity syndromes (AIS) fall within the generic category of 46,XY DSD and present as phenotypes associated with complete or partial resistance to the action of androgens, implicit that management in AIS requires a multidisciplinary team and engagement with patient advocacy groups.

Complete Androgen Insensitivity Syndrome.

TLDR
Investigation of a case in which a 17 years old girl presented with the complaint of inguinal hernia and amenorrhea revealed absence of female internal genitalia and the presence of abdominal mass, possibly testes.

Clinical and molecular aspects of androgen insensitivity.

  • O. Hiort
  • Biology, Medicine
    Endocrine development
  • 2013
TLDR
The identification of mutations in the AR gene in patients with androgen insensitivity is variable, and chances are lower the more subtle the phenotype is, so other currently unknown mechanisms must be hypothesized to lead to the respective phenotype.

Androgen-insensitivity syndrome as a possible coactivator disease.

Androgen-insensitivity syndromes in 46,XY fetuses result in various degrees of impairment in genital virilization.1 These syndromes are caused by mutations in the androgen receptor gene that result

Androgen Receptor Mutations Associated with Androgen Insensitivity Syndrome: A High Content Analysis Approach Leading to Personalized Medicine

TLDR
A novel high content analysis (HCA) approach is utilized to study AR function at the single cell level in genital skin fibroblasts (GSF) and discusses in detail findings from three historical patients with AIS, which include identification of novel mechanisms of AR malfunction, and the potential ability to utilize HCA for personalized treatment of patients affected by this condition.

Molecular biology of androgen insensitivity

[Androgen insensitivity].

TLDR
In addition to molecular genetic analysis dynamic tests were recommended which involve the follow-up of androgen-dependent indicators after androgen administration, and the original modification of the SHBG test for androgen insensitivity is described.

Genotype versus phenotype in families with androgen insensitivity syndrome.

TLDR
The commonly accepted concept of dependence on fetal androgens of the development of Wolffian ducts was studied in complete androgen insensitivity syndrome (CAIS) patients and molecular observations suggest that phenotypic variation had different etiologies among these families.
...