Table 6.

Treatment of Manifestations in Individuals with Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development

Manifestation/ConcernTreatmentConsiderations/Other
Short stature Growth hormone therapy may be considered.Referral to endocrinologist recommended
Low or absent serum
testosterone levels 1
  • Low-dose testosterone replacement therapy can be initiated after age 14 yrs. 2, 3
  • Testosterone enanthate 4 is given IM 5 every 3-4 wks, starting at 100 mg & ↑ by 50 mg every 6 mos to 200-400 mg.
  • In adulthood, treatment should plateau at best possible dosage, typically 50-400 mg every 2-4 wks.
  • If person has short stature & is eligible for growth hormone therapy, testosterone therapy should be either delayed or given 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.
Gynecomastia Reduction mammoplasty may be considered if gynecomastia is causing psychological distress.Regression of gynecomastia may occur w/testosterone replacement therapy.
Osteopenia Standard treatment per endocrinologistMay incl calcium, exercise, vitamin D, biphosphonates, or calcitonin
Undervirilization Standard therapy per urologistMay incl orchidopexy &/or hypospadias repair
Psychological
distress 		Referral to mental health professionalSensitivity is necessary when conveying information to persons w/nonsyndromic 46,XX testicular DSD about genetic cause of the disorder & assoc sterility.

IM = intramuscularly

1.

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

2.

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

3.

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

4.

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

5.

Alternative delivery systems that result in 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: Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development

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