Testicular development in the complete androgen insensitivity syndrome

  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},
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

Androgen receptor (AR) gene mutations are responsible for 15–20 % of disorders of sexual development (DSD). Over 1100 mutations have been described. When the genetic alteration, phenotype, and

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

Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor

  • 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
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

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

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

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
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

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.



The Androgen Insensitivity Syndrome (Testicular Feminization): A Clinicopathologic Study of 43 Cases

  • J. RutgersR. Scully
  • Medicine
    International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
  • 1991
Forty-three patients with the androgen insensitivity syndrome (AIS), ages 14 to 83 (average 27) years, were studied and immature tubules were revealed, which contained rare spermatogonia in 28% of the cases.

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.

Incidence of intratubular germ cell neoplasia in androgen insensitivity syndrome.

Findings would seem to indicate that a rethink is needed concerning the general opinion that patients with androgen intensivity syndrome have practically no risk of developing malignancy, and that orchidectomy is not advisable before puberty is completed.

Male pseudohermaphroditism in XY children with female phenotype.

Because of the difficulty in distinguishing the types of male pseudohermaphroditism microscopically, it is recommended that XY female children should undergo thorough endocrinologic investigation before orchidectomy.

Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.

The phenotypic heterogeneity among clinically diagnosed cases of AIS emphasizes the need for appropriate comprehensive evaluation of male under-masculinization and there is some correlation between the phenotypesic features and the abnormalities discovered on mutational analysis of the AR gene, but there is a need to improve this further by developing optimal bioassays of AR function.

The age of occurrence of gonadal tumors in intersex patients with a Y chromosome.

The syndrome of testicular feminization in male pseudohermaphrodites.

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

Morphometry and histology of gonads from twelve children and adolescents with the androgen insensitivity (testicular feminization) syndrome.

  • J. Müller
  • Medicine
    The Journal of clinical endocrinology and metabolism
  • 1984
Although patients with the AIS have no reduction of the number of germ cells during the first years of life, this syndrome is associated with abnormal morphology of the germ cells, including patterns of carcinoma-in-situ and impaired pubertal maturation of the seminiferous tubules and the germ Cells, in older patients.

Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement.

Serum AMH determination is a powerful tool to assess Sertoli cell function in children with intersex states, and it helps to distinguish between defects of male sexual differentiation caused by abnormal testicular determination and those resulting from isolated impairment of testosterone secretion or action.

Testicular Intratubular Germ Cell Neoplasia in Children and Adolescents with Intersex

In a review of 102 cases with various intersex states, the frequency of intratubular germ cell neoplasia unclassified in testes of children and adolescents was 6%, and the atypical germ cells in all testes with IGCN showed immunoreactivity with placental alkaline phosphatase.