Osteopenia as a feature of the androgen insensitivity syndrome

  title={Osteopenia as a feature of the androgen insensitivity syndrome},
  author={Steven G. Soule and Gerard S. Conway and Gordana M. Prelevic and Malcolm Prentice and Jean Ginsburg and Howard S. Jacobs},
  journal={Clinical Endocrinology},
OBJECTIVE The syndrome of androgen insensitivity, a paradigm of a hormone resistance syndrome, manifests as failure of masculinization despite normal or high concentrations of serum testosterone. The defect in these 46 XY patients resides in the androgen receptor gene, with consequent defective androgen action and abnormal sexual differentiation. We sought to evaluate whether the adverse sequelae of androgen resistance may extend to skeletal tissue by measuring bone mineral density In SIX… 

A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation

Abstract We report a case of a 14-year-old girl with primary amenorrhea and phenotypic as well as hormonal features of complete androgen insensitivity syndrome (CAIS), who tested positive for a novel

Complete Androgen Insensitivity Syndrome: From Bench to Bed

Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk).

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

Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy

Low bone mineral density (BMD) has been reported in complete androgen insensitivity syndrome (CAIS), but the impact of timing of gonadectomy is not known. We aimed to assess the relationship between

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

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

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.

Androgen Actions on Bone: Clinical Aspects

The declining sex steroid levels in the elderly may adversely affect the preservation of skeletal integrity and indicates that aromatisation of testosterone to estradiol is an important mediator of bone metabolism inThe elderly.

Altered Bone Mineral Density in Patients with Complete Androgen Insensitivity Syndrome

Both aBMD and vBMD are reduced in cAIS patients, while bone turnover and the fracture risk seem not to be increased, indicating that both androgens and estrogens may be required for acquisition of bone density during childhood.



Androgen resistance--the clinical and molecular spectrum.

  • J. Griffin
  • Biology, Medicine
    The New England journal of medicine
  • 1992
The phenotypic variation and the range of molecular defects that have been identified in persons with mutations causing androgen resistance are reviewed.

Osteoporosis in men with hyperprolactinemic hypogonadism.

The data show that chronic hyperprolactinemia and testosterone deficiency in men have deleterious and previously unrecognized extragonadal effects that may be alleviated after normalization of hormone concentrations.

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

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.

Testosterone metabolism in human bone.

It seems reasonable to conclude that dihydrotestosterone rather than testosterone is the active intracellular androgen in human bone since in other androgen target tissue androgen action is mediated by dihydotestosterone if 5 alpha-reductase is present.

Castrated men exhibit bone loss: effect of calcitonin treatment on biochemical indices of bone remodeling.

Testosterone deficiency, like estrogen deficiency, is associated with accelerated bone loss in men who have undergone bilateral orchidectomy.

Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.

Disruption of the estrogen receptor in humans need not be lethal and is important for bone maturation and mineralization in men as well as women.

Antiestrogenic action of dihydrotestosterone in mouse breast. Competition with estradiol for binding to the estrogen receptor.

The antiestrogenic effect of androgen in mouse breast may be the result of effects of dihydrotestosterone on the estrogen receptor, and it is concluded that tfm/Y mice lack a functional androgen receptor.

Sex steroids and bone density in premenopausal and perimenopausal women.

Identification of androgen receptors in normal human osteoblast-like cells.

It is concluded that both androgens and estrogens act directly on human bone cells through their respective receptor-mediated mechanisms.

Bone mineral loss in young women with amenorrhoea