C-11 Hydroxylase Deficiency Follow-up

Updated: Jan 10, 2017
  • Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD  more...
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Complications result from inadequate or excess glucocorticoid therapy.

Inadequate glucocorticoid therapy in patients with 11-beta-hydroxylase deficiency could result in exacerbation of the symptomatology associated with the disease, including virilization in females, hyperpigmentation, and accelerated growth in early childhood (with consequent early epiphysial fusion and, thus, short adult stature).

  • For males, inadequate treatment could encourage the growth of adrenal rest tumors that, when present in the testicles, are known to be associated with oligospermia and consequently infertility.

  • The problems of virilization and precocious puberty associated with poorly treated cases also result in myriad adjustment, self-image, identity, and mood disorders that often require long-term treatment and counseling by mental health professionals.

  • Patients with a poorly controlled condition may also have poorly controlled hypertension and the well-known cardiovascular sequelae.

Excessive glucocorticoid therapy is also associated with a litany of potential medical problems, as typified in patients with Cushing syndrome. Among the major conditions that must be carefully looked for are truncal obesity, poor wound healing, osteoporosis, chronic insomnia, and an increased risk for diabetes, dyspeptic ulcer disease with bleeding, and glaucoma.


Patient Education

Patients should wear medic alert bracelets stating the potential for adrenal insufficiency.

Patients should have emergency intramuscular hydrocortisone at home. The patient and family members should be properly educated in its administration in case oral intake is not possible.

Patients should know the features of glucocorticoid excess and glucocorticoid deficiency and should receive education in the early detection of these conditions.