Adrenal Hypoplasia Follow-up

  • Author: Thomas A Wilson, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: Mar 1, 2012
 

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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Complications

  • Main complications of adrenal hypoplasia include hypotension, electrolyte abnormalities, hypoglycemia, and death.
  • Complications of excessive administration of glucocorticoids are growth failure, obesity, striae, hypertension, hyperglycemia, and cataracts.
  • Excess mineralocorticoid administration can cause hypertension and hypokalemia.
  • Patients with X-linked congenital adrenal hypoplasia and defects in SF1 develop hypogonadotropic hypogonadism. Watch for this and treat appropriately if puberty does not occur in a timely fashion. Curiously, the minipuberty that occurs in the newborn period appears to be preserved. Most of these patients also experience testicular atrophy and are infertile.
  • Perform screening for hearing deficits since some patients with X-linked congenital adrenal hypoplasia have been described to have sensorineural (high-frequency) hearing deficits.
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Prognosis

  • Prognosis of untreated congenital adrenal hypoplasia is poor if the disorder is unrecognized or untreated, and death is a common outcome.
  • With proper treatment and compliance, patients can live a normal life span without limitations.
  • Hypogonadotropic hypogonadism is nearly certain to develop secondary to DAX1 mutations or deletions. Infertility is common.
  • If the gene for muscle dystrophin is absent as a contiguous gene deletion, Duchenne muscular dystrophy (OMIM 310200) results, and the prognosis is poor.
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Patient Education

  • Patients should be advised to wear medical alert bracelets or anklets that alert medical personnel to the diagnosis of adrenal insufficiency and the need for glucocorticoid therapy in times of stress.
  • Caretakers must be educated about the consequences and the potentiality of death if adequate replacement therapy is not provided.
  • Teach patients and caretakers how to give supplemental glucocorticoid in times of illness or traumatic stress. Also, teach them how to give injectable glucocorticoid when the patient is vomiting or unable to take the stress doses orally. This information must be periodically reinforced because caretakers are often reluctant to give injectable medication.
  • Advise family to seek medical help early if the patient becomes ill.
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Contributor Information and Disclosures
Author

Thomas A Wilson, MD  Professor of Clinical Pediatrics, Chief and Program Director, Division of Pediatric Endocrinology, Department of Pediatrics, The School of Medicine at Stony Brook University Medical Center

Thomas A Wilson, MD is a member of the following medical societies: Endocrine Society, Pediatric Endocrine Society, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Specialty Editor Board

Phyllis W Speiser, MD  Chief, Division of Pediatric Endocrinology, Steven and Alexandra Cohen Children's Medical Center of New York; Professor of Pediatrics, Hofstra-North Shore LIJ School of Medicine at Hofstra University

Phyllis W Speiser, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, Endocrine Society, Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Barry B Bercu, MD  Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital

Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Federation for Clinical Research, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Pediatric Endocrine Society, Pituitary Society, Society for Pediatric Research, Society for the Study of Reproduction, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Merrily P M Poth, MD  Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences

Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD  Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

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