Puberty in Subjects with Complete Androgen Insensitivity Syndrome

@article{Papadimitriou2006PubertyIS,
  title={Puberty in Subjects with Complete Androgen Insensitivity Syndrome},
  author={Dimitrios T. Papadimitriou and Agn{\`e}s Linglart and Yves Morel and Jean Louis Chaussain},
  journal={Hormone Research in Paediatrics},
  year={2006},
  volume={65},
  pages={126 - 131}
}
Background: Androgen receptor defects affect the regulation of the gonadotropic axis. However, little is known about the timing of pubertal maturation in complete androgen insensitivity syndrome (CAIS). Aims: To evaluate growth, skeletal maturation and gonadotropin and sex steroid secretion in patients with CAIS and intact gonads at puberty. Methods: Clinical, auxological and hormonal evaluation of 9 patients with CAIS from birth up to 17 years of age, prior to gonadectomy, in a single… 

Figures and Tables from this paper

Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia

TLDR
Gynaecomastia and impaired phallic growth are frequently observed in adults with PAIS, but may be ameliorated by androgen therapy, and the authors suggest that male patients presenting with gynaecOMastia in puberty and elevated circulating levels of testosterone, estradiol and LH in puberty, but normal FSH, should be suspected of having PAIS and undergo genetic testing for AR mutations.

Characteristic Features of Reproductive Hormone Profiles in Late Adolescent and Adult Females with Complete Androgen Insensitivity Syndrome

Little is known about gonadotropins and sex steroid levels in postpubertal women with complete androgen insensitivity syndrome (CAIS). In order to define reproductive hormone profiles in women with

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.

Hormonal Management of Complete Androgen Insensitivity Syndrome from Adolescence Onward

TLDR
Bone health remains a crucial aspect in the management of persons with CAIS, but few sound data are available to guide clinical practice.

Androgen insensitivity syndrome

  • N. MendozaM. A. Motos
  • Medicine
    Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
  • 2013
TLDR
The prognosis for CAIS is good if the testicular tissue is removed at the appropriate time and for PAIS, the prognosis depends on the ambiguity of the genitalia and physical and psychosocial adjustment to the assigned sex.

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

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.

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.

46,XY disorders of sex development--the undermasculinised male with disorders of androgen action.

...

References

SHOWING 1-10 OF 32 REFERENCES

Pubertal growth in patients with androgen insensitivity: indirect evidence for the importance of estrogens in pubertal growth of girls.

TLDR
It is concluded that in normal girls, the pubertal growth spurt also results from the action of estrogens rather than of adrenal androgens, and physiologic estrogen replacement in hypogonadal females should be started at a bone age of about 11 years, and should not be delayed in the hope of achieving a greater mature height.

Assessment of the gonadotrophin–gonadal axis in androgen insensitivity syndrome

TLDR
Although adequate serum concentrations of testosterone exclude a defect in testosterone biosynthesis, a low testosterone value at baseline or following human chorionic gonadotrophin stimulation does not always exclude AIS Baseline luteinising hormone concentrations are not necessarily inappropriately high in AIS; a luteine releasing hormone stimulation test might be a useful investigation in later childhood.

The contribution of testosterone to skeletal development and maintenance: lessons from the androgen insensitivity syndrome.

TLDR
It is concluded that even when compliance to exogenous estrogen use is excellent, women with complete AIS show moderate deficits in spine BMD, averaging close to 1 SD from normative means, and that with correction of BMD for bone size, skeletal deficits are magnified and include the proximal femur.

Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene.

TLDR
It is concluded that the postnatal T and LH surge occurs expectedly in neonates with PAIS but is absent in those with CAIS and that thePostnatal T rise requires the receptivity of the hypothalamo-pituitary axis to T.

Androgen and gonadotropin dynamics in testicular feminization syndrome.

TLDR
Four adult siblings with the complete form of testicular feminization (TFS) were studied before and after gonadectomy, demonstrating that the usual relationship of testosterone production to its own clearance rate did not exist in these patients.

The Postnatal Gonadotropin and Sex Steroid Surge—Insights from the Androgen Insensitivity Syndrome

TLDR
Evaluating the postnatal hormonal patterns of infants with the androgen insensitivity syndrome (AIS) fills a significant knowledge gap with respect to the endocrinology of AIS and will be of value to clinicians who care for infants with disorders of sex differentiation but also to those seeking to better understand the normal physiology of the human reproductive system.

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.

Treatment of central precocious puberty by subcutaneous injections of leuprorelin 3-month depot (11.25 mg).

TLDR
In conclusion, leuprorelin 3-month depot efficiently inhibits the gonadotropic axis in 95% of children with central precocious puberty studied for a 6-month period, allowing the reduction of the number of yearly injections from 12 to 4.

Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations

TLDR
Patients with clinically evident complete androgen insensitivity syndrome are likely to harbor an AR gene mutation, demanding that the two polymorphic regions must always be included in molecular analyses of the AR gene.