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Cited by 99Sexual Differentiation and DisordersBone health and osteoporosis researchHormonal and reproductive studies

Osteopenia as a feature of the androgen insensitivity syndrome.

Soule, Steven G., Conway, Gerard, Prelevic, Gordana M., Prentice, Malcolm, Ginsburg, Jean, Jacobs, Howard S.·1995·Clinical Endocrinology
DOI 10.1111/j.1365-2265.1995.tb00533.x
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Abstract

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.

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Authors
Soule, S. G., Conway, G., Prelevic, G. M., Prentice, M., Ginsburg, J., & Jacobs, H. S.
Affiliations
  • University College London (GB)
  • Croydon University Hospital (GB)
  • The Royal Free Hospital (GB)
Corresponding author
Jacobs, Howard S.
ORCID
Venue
Clinical Endocrinology
Publisher
Wiley
Published
1995-12
Volume
43
Issue
6
Pages
671-675
ISSN
  • 0300-0664 (ISSN-L)
  • 1365-2265
DOI
10.1111/j.1365-2265.1995.tb00533.x
OpenAlex
W2155091922
Cited by
99
References
20
Citations by year
2026: 1 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 2 · 2021: 5 · 2020: 3 · 2019: 5 · 2018: 1 · 2017: 5 · 2016: 2 · 2015: 1 · 2013: 2 · 2012: 1
FWCI
1.11
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 4593 d)
Locations
  • Clinical Endocrinology (publishedVersion)
  • PubMed (publishedVersion)
  • UCL Discovery (University College London) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Orthopedics and Sports Medicine › Bone health and osteoporosis research
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal and reproductive studies
Keywords
androgen insensitivity syndrome, osteopenia, bone mineral density, androgen receptor, hormone resistance, estrogen deficiency, gonadectomy, estrogen replacement therapy, 46,XY disorders of sex development, lumbar spine, femoral neck
MeSH terms
Adolescent, Adult, Androgens, Bone Diseases, Metabolic, Cross-Sectional Studies, Estrogens, Humans, Infant, Infant, Newborn, Karyotyping, Male, Retrospective Studies, Disorders of Sex Development, Syndrome, Bone Density

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