eMedicine Specialties > Pediatrics: General Medicine > Endocrinology

Familial Glucocorticoid Deficiency: Follow-up

Author: Andrea Haqq, MD, Assistant Professor, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Duke University Medical Center
Coauthor(s): Bruce A Boston, MD, Director, Pediatric Endocrine Training Program, Associate Professor, Department of Pediatrics, Division of Pediatric Endocrinology, Oregon Health Sciences University and Doernbecher Children's Hospital
Contributor Information and Disclosures

Updated: Oct 7, 2008

Follow-up

Further Inpatient Care

  • Glucocorticoid replacement: Focus inpatient care of familial glucocorticoid deficiency on providing adequate replacement of glucocorticoids. Administer an initial maintenance dose of 12-16 mg/m2/d of oral hydrocortisone divided in 3 doses.

Further Outpatient Care

  • Glucocorticoid replacement: Clinically judge the adequacy of glucocorticoid treatment by documenting reduced hyperpigmentation, absence of hypoglycemia and weakness, and normal growth at frequent follow-up visits. Administer the lowest dosage of glucocorticoid sufficient to control symptoms of adrenal insufficiency to permit normal growth in these patients.

Inpatient & Outpatient Medications

  • Glucocorticoids are previously discussed.

Complications

  • FGD, if left untreated or inadequately treated, may lead to death from adrenal crisis or to severe mental disability as a result of recurrent hypoglycemia. Alternatively, overtreatment with glucocorticoids may result in growth failure and features of Cushing syndrome, which include weight gain, hypertension, obesity, skin changes, osteoporosis, glucose intolerance, and muscle weakness.

Prognosis

  • Patients with FGD have a lifelong loss of adrenal function. They remain at risk of adrenal insufficiency during periods of stress when the adrenal gland normally secretes more hormones. If patients receive adequate glucocorticoid replacement and are properly educated regarding readjustment of medication during times of illness and stress, they should have a normal lifespan and be able to have children of their own.

Patient Education

  • Glucocorticoid therapy
    • Educate patients regarding readjustment of glucocorticoid dosage during intercurrent illness or stress and during minor stress. Regarding fever or upper respiratory tract infections, double or triple the dosage of glucocorticoid until the illness is resolved.
    • Advise parents and/or caregivers to contact their pediatric endocrinologist if vomiting or diarrhea is present and the child cannot tolerate oral fluids and medication. They may be instructed to administer a prefilled Solu-Cortef syringe intramuscularly in a dose appropriate for the size of the patient. Alternatively, hospitalization may be required in this situation.
    • In cases of major stress, such as surgery or serious illness, advise parents to contact their pediatric endocrinologist. As a life-saving measure, parents may need to administer a prefilled Solu-Cortef syringe intramuscularly if medical assistance is not immediately available. Following this, advise parents to arrange transfer of their child to the hospital.
    • In serious illness, the daily requirement of parenteral hydrocortisone is 40-100 mg/m2 (approximately 4-10 times the maintenance dose) in 3 or 4 divided doses. Advise all patients with FGD to wear a MedicAlert bracelet outlining their condition and medical treatment.
    • Because of the rarity of this condition, provide families with a physician letter outlining FGD and its potential complications and treatments to present to an emergency care facility should a visit to the emergency department be necessary. Counsel patients, families, and/or caregivers regarding the importance of compliance in taking this life-sustaining medication; this medication should never be stopped in any circumstance.
  • Genetics
    • Counsel patients with FGD and their families regarding the autosomal recessive inheritance pattern of FGD.
    • Monitor siblings and close relatives for potential symptoms of FGD; obtain appropriate laboratory screening to rule out this condition, which is potentially fatal if left untreated.

Miscellaneous

Medicolegal Pitfalls

  • Failure to recognize hypoglycemia and provide appropriate treatment
  • Failure to provide appropriate treatment and to reassess glucocorticoid deficiency: Glucocorticoid replacement is needed for prevention of adrenal crisis and to ensure normal growth in these children. The lowest dosage sufficient to control symptoms of adrenal insufficiency should be administered to permit normal growth in these patients. The adequacy of treatment should be judged clinically by documenting reduced hyperpigmentation, absence of hypoglycemia and weakness, and normal growth at frequent follow-up visits.
  • Failure to educate the family and patients: Appropriate education of the family and patient(s) regarding readjustment of glucocorticoid dosage during intercurrent illness or stress is mandatory and should be documented in the medical record.

Special Concerns

  • Counsel patients regarding maintaining adequate caloric intake throughout pregnancy to prevent hypoglycemia. Adequate glucocorticoid replacement must be ensured throughout pregnancy. Counsel patients with familial glucocorticoid deficiency (FGD) regarding the inheritance pattern of FGD, which is a rare autosomal recessive disorder. Thus, the chances of having a child similarly affected with FGD would be negligible unless parents were consanguineous.
  • In the newborn, symptoms may be subtle and a high degree of suspicion is needed. In an individual whose hypoglycemia is indeed documented, an appropriate endocrine workup must be performed, including an evaluation of adrenal status. While awaiting diagnostic studies, prompt treatment of hypoglycemia is mandatory to prevent irreversible neurologic damage. Consider hospital admission for investigation and treatment in any child presenting with hypoglycemia of unknown etiology.
 


More on Familial Glucocorticoid Deficiency

Overview: Familial Glucocorticoid Deficiency
Differential Diagnoses & Workup: Familial Glucocorticoid Deficiency
Treatment & Medication: Familial Glucocorticoid Deficiency
Follow-up: Familial Glucocorticoid Deficiency
References
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Further Reading

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Keywords

familial glucocorticoid deficiency, FGD, adrenocorticotropic hormone, ACTH, unresponsiveness, Allgrove syndrome, AS, hypoglycemia, hyperpigmentation, pallor, sweating, palpitations, anxiety, shakiness, hunger, abdominal symptoms, vision changes, jitteriness, respiratory distress, cyanosis, apnea, hypotonia, seizures, ambiguous genitalia, congenital adrenal hyperplasia, cutaneous candidiasis, polyglandular autoimmune syndrome, adrenoleukodystrophy, Wolman disease, distal motor neuropathy, distal sensory neuropathy, dysarthria, ataxia, Parkinsonian disease features, mild dementia, developmental delay, optic atrophy

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Contributor Information and Disclosures

Author

Andrea Haqq, MD, Assistant Professor, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Duke University Medical Center
Andrea Haqq, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Coauthor(s)

Bruce A Boston, MD, Director, Pediatric Endocrine Training Program, Associate Professor, Department of Pediatrics, Division of Pediatric Endocrinology, Oregon Health Sciences University and Doernbecher Children's Hospital
Bruce A Boston, MD is a member of the following medical societies: Alpha Omega Alpha, American Diabetes Association, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Medical Editor

Thomas A Wilson, MD, Professor of Clinical Pediatrics, Department of Pediatrics; Director of Pediatric Endocrinology, Division of Pediatric Endocrinology, Department of Pediatrics, State University of New York at Stony Brook
Thomas A Wilson, MD is a member of the following medical societies: Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

George P Chrousos, MD, FAAP, MACP, MACE, Professor and Chair, Department of Pediatrics, Athens University Medical School
George P Chrousos, MD, FAAP, MACP, MACE is a member of the following medical societies: American Academy of Pediatrics, American College of Endocrinology, American College of Physicians, American Pediatric Society, American Society for Clinical Investigation, Association of American Physicians, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

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 Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD, Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas and 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: Genentech, Inc. Honoraria Speaking and teaching; Pfiser, Inc. Honoraria Consulting

 
 
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