Testicular development in the complete androgen insensitivity syndrome

@article{Hannema2006TesticularDI,
  title={Testicular development in the complete androgen insensitivity syndrome},
  author={S. E. Hannema and IS Scott and Ewa Rajpert-De Meyts and N. E. Skakkeb{\ae}k and Nicholas Coleman and I. A. Hughes},
  journal={The Journal of Pathology},
  year={2006},
  volume={208}
}
The complete androgen insensitivity syndrome (CAIS), caused by mutations in the androgen receptor (AR) gene, is associated with abnormal testicular development and an increased risk of germ cell malignancy. Previous histological studies in CAIS have selected patients purely on the basis of clinical diagnosis and were mostly based on small numbers, many of whom were post‐pubertal. Here, we present 44 cases of CAIS, each with molecular pathological confirmation of an AR mutation. The median age… 

Usefulness of Histological Studies in Patients with the Androgen Insensitivity Syndrome

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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

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  • M. IzawaE. Hisamatsu T. Hamajima
  • Medicine, Biology
    Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
  • 2021
TLDR
This is the first reported case of CAIS with accelerated onset of puberty resulting from a Sertoli cell tumor, and histology demonstrated presence of a non-malignant Sertolis cell tumor in the right gonad.

Two Sisters with Testicular Feminization or Complete Androgen Insensitivity Syndrome

TLDR
The case of two sisters, aged respectively 38 and 40 years, who have a CAIS are reported and the physiopathological basis of this syndrome and its clinical aspects and the therapeutic implications are recalled.

Complete androgen insensitivity syndrome: diagnosis and management

TLDR
New insights are provided into CAIS screening, surgical management of the gonads and of vaginal adequacy, and the ethics concerned with the disclosure to patients and their families.

Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty

TLDR
It is shown that germ cell degeneration starts very early, with a marked decrease in number after only 2 years of life, and the permanence of gonocytes in AIS testis samples until puberty, describing 2 different populations.

Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli–Leydig cell tumor: Identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor

  • K. JarząbekP. Philibert C. Sultan
  • Medicine, Biology
    Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
  • 2007
TLDR
It is suggested that the high expression of aromatase and other molecular changes in the testis may be responsible for pubertal breast development and the increased risk of testicular tumor.

Androgen Insensitivity Syndrome (AIS): Complete AIS (CAIS)

Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene

TLDR
A 26-year-old patient with CAIS who underwent gonadectomy followed by a significant decrease in libido is presented, which was improved with testosterone treatment but not with estradiol in some forms of CAIS, raising intriguing questions regarding the relative roles of testosterone and estrogen in Libido.
...

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