Bone health in disorders of sex differentiation

Silvano Bertelloni, G. I. Baroncelli, S. Mora

Research output: Chapter in Book/Report/Conference proceedingChapter


Sex steroids are main regulators of skeletal growth, maturation and mass in both men and women. People with disorders of sex development (DSD) may experience problems in developing normal bone growth, structure and mass, because abnormal sex steroid secretion or action may be operative. In complete androgen insensitivity syndrome several reports documented reduced bone mineral density (BMD). Reduced BMD is evident in patients with not removed or removed gonads, but it is poorer in the latter, mainly when compliance with estrogen replacement therapy is not guaranteed. Large impairment of BMD does not seem to be present in patients with partial androgen insensitivity syndrome or 5( -reductase-2 deficiency, providing that gonads are not removed or that substitutive therapy is optimized. In congenital adrenal hyperplasia, BMD may be impaired as a result of not optimal glucocorticoid administration. In Turner syndrome, impaired BMD may result from the combined actions of estrogen deficiency, low bone dimensions, altered bone geometry, deficient cortical bone, and trabecular bone loss. Optimal estrogen administration seems to be important in preserving bone mass and enhancing trabecular bone volume. On the whole, bone health represents a main clinical issue for the management of persons with disorders of sex differentiation, and well designed longitudinal studies should be developed to improve their bone health and wellbeing.

Original languageEnglish
Title of host publicationNew Concepts for Human Disorders of Sexual Development
PublisherS. Karger AG
Number of pages15
ISBN (Print)9783805595681
Publication statusPublished - Sep 28 2010


  • 5( -reductase-2
  • Androgen insensitivity
  • Androgens
  • Bone health
  • Congenital adrenal hyperplasia
  • Disorders of sex differentiation
  • Estrogens
  • Turner syndrome

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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