Adrenal Hypoplasia Follow-up

Updated: Dec 14, 2021
  • Author: Thomas A Wilson, MD; Chief Editor: Robert P Hoffman, MD  more...
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Follow-up

Further Outpatient Care

Patients with adrenal hypoplasia on chronic glucocorticoid therapy must be monitored for adequacy of dosing.

  • Too little therapy results in symptoms of adrenal insufficiency (anorexia, nausea, vomiting, abdominal pain, asthenia).

  • Too much therapy results in excess weight gain, cushingoid features, hypertension, hyperglycemia, cataracts, osteopenia, and growth failure.

  • Growth failure is one of the more sensitive indicators of excess exposure in children.

  • Blood pressure and plasma renin activity provides a guide for adequacy of mineralocorticoid therapy.

If no signs of puberty are seen by age 14-15 years, suspect hypogonadotropic hypogonadism.

  • This is associated with low serum concentrations of gonadotropins (eg, leuteinizing hormone [LH] and follicle-stimulating hormone [FSH]) and low serum concentration of testosterone in the male.

  • Patients with hypogonadotropic hypogonadism may be unresponsive to gonadotropin-releasing hormone (GnRH) analogues suggesting insufficiency of pituitary secretion of gonadotropins, as well as a deficiency of GnRH.

  • The simplest treatment for hypogonadotropic hypogonadism in the male is testosterone enanthate or cypionate in oil initially at 75-100 mg intramuscularly every month and gradually increasing to full adult doses of 200-300 mg intramuscularly every 2 weeks.

  • Testosterone also can be administered by cutaneous patch or gel; however, this makes adjustment of dose more difficult, and accurate dosing for adolescents has yet to be resolved.

  • Oral preparations of androgen (oxandrolone, Halotestin) are more likely to cause hepatic dysfunction than injectable preparations or transdermal preparations. Transcutaneous preparations provide more stable serum concentrations.

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Deterrence/Prevention

With proper identification of the genetic cause, prenatal diagnosis should be possible once an index case is identified in a family.

Prenatal diagnosis is also possible by taking serial measurements of dehydroepiandrosterone sulfate (DHEAS) and estriol in maternal plasma during pregnancy, because these hormones are derived from the fetal adrenal cortex. These hormones are unusually low in cases of fetal adrenal hypoplasia; however, this test is nonspecific. Low levels of these hormones also are observed in panhypopituitarism, in steroid sulfatase deficiency, and in women treated with glucocorticoids during pregnancy.

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