Table 7.

Recommended Surveillance for Individuals with Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development

System/ConcernEvaluationFrequency
Short stature Measurement of length/heightAt each visit
Low testosterone
levels 		Assessment of mood, libido, energy, erectile function, acne, breast tenderness, & presence or progression of gynecomastiaAt each visit in adolescence & adulthood
For those on
testosterone
replacement
therapy 		Measurement of serum testosterone levels
  • Every 3 mos (prior to next injection) to evaluate nadir testosterone concentrations 1
  • Once optimal dose is established, annual measurements are sufficient.
Digital rectal exam & measurement of PSA in adults 23, 6, & 12 mos after initiation of testosterone therapy; then annually
Measurement of hematocrit 33, 6, & 12 mos after initiation of testosterone therapy; then annually
Lipid profile & liver function testsAnnually
Osteopenia DXA scanEvery 3-5 yrs after puberty or annually if osteopenia has been identified

DXA = dual-energy x-ray absorptiometry; PSA = prostate-specific antigen

1.

Concentrations lower than 200 ng/dL or higher than 500 ng/dL may require adjustment of total dose or frequency.

2.

To evaluate for the presence of an overt prostate cancer, which would be a contraindication to supplemental testosterone treatment.

3.

Increased hematocrit may lead to risk of hypoxia and sleep apnea.

From: Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.