Table 6.

Recommended Surveillance for Individuals with MYRF-Related Cardiac Urogenital Syndrome

System/ConcernEvaluationFrequency
Constitutional Measurement of growth parametersAt each visit
Endocrine Monitor for onset & progression of puberty.At each visit starting at age ~7 yrs until puberty is completed
Low testosterone
levels 		Assessment of mood, libido, energy, erectile function, acne, breast tenderness, & presence or progression of gynecomastiaAt each visit in undervirilized 46,XY adolescents & adults
For those on
testosterone
replacement
therapy 		Measurement of serum testosterone levelsAt 3-mo intervals (prior to next injection) to evaluate nadir testosterone concentrations 1; once optimal dose is established, annual measurement is sufficient.
Digital rectal exam & measurement of PSA in adults 23, 6, & 12 mos after initiation of testosterone therapy; then annually
Measurement of hematocrit 3
Lipid profile & liver function testsAnnually
Eyes Ophthalmic evalAnnuall, or as clinically indicated if features of amblyopia, strabismus, or angle closure glaucoma are present
Development Monitor developmental progress & educational needs.At each visit
Respiratory Monitor for evidence of respiratory insufficiency.
Osteopenia DXA scan in persons w/DSDEvery 3-5 yrs after puberty, or annually if osteopenia has been identified
Family/
Community 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).At each visit

DXA = dual-energy x-ray absorptiometry; DSD = differences of sex development; 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 a subsequent risk of hypoxia and sleep apnea.

From: MYRF-Related Cardiac Urogenital Syndrome

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