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Familial Glucocorticoid Deficiency Follow-up

  • Author: Andrea Haqq, MD; Chief Editor: Stephen Kemp, MD, PhD  more...
 
Updated: Sep 25, 2013
 

Further Outpatient Care

See the list below:

  • 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.
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Further Inpatient Care

See the list below:

  • 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.
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Inpatient & Outpatient Medications

Glucocorticoids are previously discussed.

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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.

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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.

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Patient Education

See the list below:

  • 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.
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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.

Specialty Editor Board

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.

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) Professor and Chair, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children's Hospital, Greece; UNESCO Chair on Adolescent Health Care, University of Athens, Greece

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) is a member of the following medical societies: American Academy of Pediatrics, American College of Physicians, American Pediatric Society, American Society for Clinical Investigation, Association of American Physicians, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, American College of Endocrinology

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD Former 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, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

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, Phi Beta Kappa

Disclosure: Nothing to disclose.

Acknowledgements

Bruce A Boston, MD Chief, Division of Pediatric Endocrinology, 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 Pediatric Endocrine Society

Disclosure: Nothing to disclose.

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