Table 5.

Treatment of Manifestations in Individuals with MYRF-Related Cardiac Urogenital Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Undervirilization or ambiguous (nonbinary) genitalia in 46,XY persons Standard therapy per DSD team 1Which may incl hormonal therapy, psychosocial support, gender identity assessment, & surgical intervention (e.g., orchidopexy &/or hypospadias repair)
Low or absent serum testosterone levels 2
  • After age 14 yrs, low-dose testosterone replacement therapy can be initiated 3, 4: testosterone enanthate 5 is given IM 6 every 3-4 wks starting at 100 mg & ↑ by 50 mg every 6 mos to 200-400 mg.
  • In adulthood, the treatment should plateau, at best possible dosage, typically between 50 & 400 mg every 2-4 wks.
  • If person has short stature & is eligible for growth hormone therapy, either delay testosterone therapy or give at lower doses initially to maximize growth potential.
  • Side effects incl pain assoc w/injection & large variations of serum testosterone concentration between injections, resulting in ↑ risk of mood swings.
Ovarian hypoplasia Referral to gynecologist or reproductive endocrinologist for discussion of initiating/continuing HRT & fertility options
Hypothyroidism Thyroid replacement therapyPer endocrinologist
Refractive error, amblyopia, angle closure glaucoma, nanophthalmos Standard treatment per ophthalmologist
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Structural cardiac abnormalities Standard treatment per cardiologist
Diaphragmatic hernia Standard treatment per surgeon & pulmonologist
Pulmonary hypoplasia Standard treatment per pulmonologist
Intestinal malrotation Standard treatment per surgeon & gastroenterologist
Splenic anomalies Standard treatment per immunologist
Renal anomalies / Hydronephrosis Standard treatment per urologist &/or nephrologist
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
Ongoing assessment of need for learning or developmental supports

DSD = differences of sex development; HRT = hormone replacement therapy; IM = intramuscular

1.

The DSD team should include geneticist, endocrinologist, psychologist, urologist, and possibly gynecologist. If a multidisciplinary team is unavailable, these specialties can be consulted individually.

2.

Prior to initiating treatment with supplemental testosterone in adults, perform a digital rectal examination and measurement of prostate-specific antigen, abnormalities of which would be a contraindication to the treatment.

3.

Physicians should check for the most current preparations and dosage recommendations before initiating testosterone replacement therapy.

4.

Initial high doses of testosterone should be avoided to prevent priapism.

5.

Injection of testosterone enanthate is the preferred method of replacement therapy because of low cost and easy, at-home regulation of dosage.

6.

Alternative delivery systems that result in a more stable dosing include transdermal patches (scrotal and nonscrotal) and transdermal gels. Testosterone-containing gels, however, are associated with the risk of interpersonal transfer, which can be reduced by the use of newer hydroalcoholic gels.

From: MYRF-Related Cardiac Urogenital Syndrome

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