Complete androgen insensitivity Pathophysiology, diagnosis, and management

@article{ImperatoMcGinley1992CompleteAI,
  title={Complete androgen insensitivity Pathophysiology, diagnosis, and management},
  author={Julianne Imperato-McGinley and William Canovatchel},
  journal={Trends in Endocrinology \& Metabolism},
  year={1992},
  volume={3},
  pages={75-81}
}

Androgen receptor dysfunction in human androgen insensitivity

  • T. Brown
  • Biology
    Trends in Endocrinology & Metabolism
  • 1995

5alpha-reductase-2 deficiency and complete androgen insensitivity: lessons from nature.

TLDR
The clinical and laboratory findings of this syndrome have defined specific roles for testosterone and dihydrotestosterone in male sexual differentiation and development and helped to define the role of androgens in gender identity formation.

Bone mass in androgen-insensitivity syndrome: Response to hormonal replacement therapy

TLDR
Bone mineral density (BMD) measured by dual X-ray absorptiometry in lumbar spine and proximal femur was sharply reduced at the initial visit, and remained unchanged during long-term follow-up on hormone replacement therapy with estrogens and progestin.

Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization

TLDR
Normal male development requires the combined action of the inhibitory anti-müllerian hormone (AMH) to block the development of the uterus and fallopian tubes from the m Müllerian duct, together with the trophic stimulus of testosterone (a Leydig cell product), which leads to virilization of the wolffian ducts.

A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred.

TLDR
A novel mutation in the polymorphic CAG trinucleotide region of exon 1 of the AR gene, where a single adenine is inserted, or equivalently, a GC-dinucleotide is deleted at this region of the gene, is identified.

Disorders of Sex Development

TLDR
The classification of these disorders considering different viewpoints, including genetic, endocrinologic, clinical, and histopathologic, has not yet been resolved because it has been progressively understood that gonadal dysgenesis has mosaicisms or more complex chromosomal constitutions.

Pediatric Gender Assignment

378, 1977. Hadziselimovic F. Cryptorchidism: Ultrastructure of Normal and Cryptorchid Testis Development. New York. SpringerVerlag, 1977. Hadziselimovic F. Cryptorchidism: Management and

References

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Androgen insensitivity in man: evidence for genetic heterogeneity.

TLDR
Within the clinical syndrome of androgen insensitivity there are at least two distinct genetic variants that may result from allelic mutations of the same X-linked gene specifying the dihydrotestosterone receptor or, alternatively, from mutations of separate genes both being essential for androgen action in responsive cells.

Androgen insensitivity as a cause of infertility in otherwise normal men.

TLDR
The low amount of androgens receptor and the combination of high serum gonadotropins and plasma testosterone production rates suggest that the defective spermatogenesis in these infertile men was the consequence of androgen insensitivity.

A mutation of the androgen receptor associated with partial androgen resistance, familial gynecomastia, and fertility.

TLDR
A family is described in which gynecomastia and undervirilization in five men were inherited in a manner compatible with an X-linked defect, since it is compatible with normal male phenotypic development and in some affected men with fertility.

Steroid 5α-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism

In male pseudohermaphrodites born with ambiguity of the external genitalia but with marked virilization at puberty, biochemical evaluation reveals a marked decrease in plasma dihydrotestosterone

Complete androgen insensitivity syndrome characterized by increased concentration of a normal androgen receptor in genital skin fibroblasts.

  • I. HughesB. Evans
  • Biology, Medicine
    The Journal of clinical endocrinology and metabolism
  • 1986
TLDR
A new variant of CAIS is described which is characterized by an increased concentration of androgen receptors that appear to be quantitatively and qualitatively normal.

The syndrome of testicular feminization in male pseudohermaphrodites.

  • J. Morris
  • Medicine
    American journal of obstetrics and gynecology
  • 1953

Hormonal evaluation of a large kindred with complete androgen insensitivity: evidence for secondary 5 alpha-reductase deficiency.

Seventeen individuals from a pedigree with complete androgen insensitivity, [testicular feminization (TF)] are presented. Their hormonal evaluation was compared with those of normal males and male

Syndrome of androgen insensitivity in man: absence of 5 alpha-dihydrotestosterone binding protein in skin fibroblasts.

ABSTRACT A method has been developed for measuring specific DHT binding in cultured human skin fibroblasts. Initial studies indicate that about one half of the measured bindingis nuclear and the rest

Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity.

  • W. MeyerB. MigeonC. Migeon
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    Proceedings of the National Academy of Sciences of the United States of America
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TLDR
The results indicate the presence of a gene on the human X chromosome that is essential for normal male sexual differentiation and provide further evidence for homology between X chromosomes of all mammals.