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Osteopenia as a feature of the androgen insensitivity syndrome
S G Soule1, G Conway, G M Prelevic
1Department of Medicine, UCL Medical School, Middlesex Hospital, London, UK.
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 patients with androgen insensitivity.
Design:
A cross-sectional retrospective study.
Measurements:
Bone mineral density was measured by means of a Dexa (Hologic QDR 1000 scanner). The diagnosis of androgen insensitivity was confirmed in each patient by karyotype and assay of sex hormones.
Results:
The five adult patients with androgen insensitivity had been exposed to both defective androgen action and variable periods of oestrogen deficiency. The latter resulted from the low circulating oestrogen concentrations (for premenopausal females) before gonadectomy and inadequate oestrogen replacement after gonadectomy. All five adults with androgen insensitivity had osteopenia in both the lumbar spine (T-score -1.52 to -3.85) and femoral neck (T-score -1.34 to -4.91).
Conclusions:
Osteopenia in patients with androgen insensitivity may relate to defective androgen action, oestrogen deficiency or a combination of the two. These observations have implications for the management of patients with androgen insensitivity and may provide insight into the effects of androgens on the female as well as the male skeleton.
Insights
Patients with androgen insensitivity syndrome experience osteopenia due to defective androgen action, estrogen deficiency, or both. This highlights the impact of androgens on skeletal health in both males and females.
Area of Science:
- Endocrinology
- Skeletal Biology
- Genetics
Background:
- Androgen insensitivity syndrome (AIS) is a condition where individuals with 46 XY chromosomes fail to respond to androgens, leading to incomplete masculinization despite normal or elevated testosterone levels.
- The genetic defect in AIS lies within the androgen receptor gene, causing impaired androgen signaling and abnormal sexual differentiation.
Observation:
- This study investigated bone mineral density (BMD) in six patients diagnosed with AIS.
- BMD was measured using a Dexa scanner, with AIS diagnosis confirmed by karyotype and sex hormone assays.
Findings:
- Five adult patients with AIS exhibited osteopenia in both the lumbar spine and femoral neck.
- These patients experienced both defective androgen action and periods of estrogen deficiency, stemming from low pre-gonadectomy estrogen levels and insufficient post-gonadectomy estrogen replacement.
Implications:
- Osteopenia in AIS patients may result from a combination of androgen deficiency and estrogen deficiency.
- These findings suggest that androgens play a role in maintaining skeletal health in both sexes and have implications for managing AIS patients.