Androgen insensitivity syndrome

@article{Mendoza2013AndrogenIS,
  title={Androgen insensitivity syndrome},
  author={Nicol{\'a}s Mendoza and Miguel Angel Motos},
  journal={Gynecological Endocrinology},
  year={2013},
  volume={29},
  pages={1 - 5}
}
Androgen insensitivity syndrome (AIS) is a disorder caused by a mutation of the gene encoding the androgen receptor (AR; Xq11–q12). The prevalence of AIS has been estimated to be one case in every 20,000 to 64,000 newborn males for the complete syndrome (CAIS), and the prevalence is unknown for the partial syndrome (PAIS). The symptoms range from phenotypically normal males with impaired spermatogenesis to phenotypically normal women with primary amenorrhea. Various forms of ambiguous genitalia… 
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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…

Testicular Feminization or Androgen Insensitivity Syndrome (AIS) in Iran: a Retrospective Analysis of 30-Year Data

TLDR
The results showed no association between AIS and maternal or paternal age nor were the marital pattern of the parents, and the clinical findings illustrated that primary amenorrhea had the highest indication for referral of AIS patients for genetic counseling and cytogenetic study.

Late diagnosis of complete androgen insensitivity syndrome: Case report

Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome

TLDR
It is shown that a novel mutation of the AR gene can cause complete AIS and the study also broadened the AR mutation spectrum and indicated that targeted exome sequencing could help facilitate the diagnosis of complicated disorders in sexual development.

A hemizygous mutation in the androgen receptor gene causes different phenotypes of androgen insensitivity syndrome in two siblings by disrupting the nuclear translocation

TLDR
An in-depth insight into the pathogenesis in AIS based on the amino acid substitution is provided, which may help aid its precise diagnosis, personalized treatment, and organized follow-up to avoid gender dysphoria.

Complete Androgen Insensitivity Syndrome: Dilemmas for Further Management after Gonadectomy

TLDR
A case of complete androgen insensitivity syndrome is reported which posed a quandary for management of long term bone health and management of Reproductive issues also need to be addressed in these young woman.

Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development

TLDR
Recent data regarding gonadal malignancy risk in DSD and recommendations on timing of gonadectomy are presented and safe and well-accepted guidelines are presented.

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

TLDR
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.

Androgen Insensitivity Syndrome

TLDR
A person with androgen insensitivity syndrome may have mostly female external sex characteristics or signs of both male and female sexual development before birth and during puberty.

A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features.

TLDR
Given the risk of malignancy with XY gonadal dysgenesis, the patient had surgery to remove the gonads and had no postoperative complications after a 6-month follow-up visit.

References

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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.

Androgen insensitivity syndrome: clinical features and molecular defects

TLDR
This review focuses on the clinical features and molecular pathophysiology of AIS and explores the relationship of the molecular defects in the AR gene to their clinical expression.

Androgen insensitivity syndrome (or Morris syndrome) and other associated pathologies.

TLDR
This study confirms the need to perform a pelvic examination by means of echography in pre-pubertal and pubertal age to highlight the normality of the internal genitalia (uterus and ovaries) and shows that each subject has a mutation in the gene for the androgen receptor (AR).

Complete androgen insensitivity syndrome: clinical and anatomopathological findings in 23 patients.

TLDR
The patients reported here provide a remarkable opportunity to study the molecular genetic characterization that can serve as a primary tool for diagnosis and subsequent therapy.

Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling.

TLDR
Six patients with AIS due to somatic mutations of the AR and one mother with somatic mosaicism who transmitted the mutation twice are reported, underline the crucial role of the remnant wild-type AR for virilization because the same mutations, when they are inherited, lead to CAIS.

Prenatal Diagnosis of Androgen Insensitivity Syndrome

TLDR
AIS is an important consideration in pregnancies that show sex discordance in ultrasonography and karyotype results with the opportunity to perform molecular analysis of the AR gene in order to confirm the diagnosis.

Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.

TLDR
This review describes medical, psychosocial, and ethical concerns for each stage of development in complete and partial AIS, from the neonatal period to adulthood, and uses the GRADE system when appropriate to appraise the existing evidence.

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.

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].

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.
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