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Familial Glucocorticoid Deficiency Treatment & Management

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

Medical Care

Treatment of familial glucocorticoid deficiency (FGD) includes the following:

  • Hypoglycemia
    • Immediate diagnosis and treatment of hypoglycemia is essential. Children with seizures or prolonged recurrent episodes of hypoglycemia are more likely to experience brain damage.
    • When the cause of hypoglycemia is unknown, start an intravenous line and collect 5-10 mL of blood in a heparinized tube.
    • When hypoglycemia is suspected, start treatment without waiting for the results of the blood or plasma glucose tests.
    • In neonates, administer intravenous (IV) 10% dextrose at 2.5 mL/kg as a rapid IV bolus followed by a continuous IV infusion of 3-5 mL/kg/h (5-8 mg glucose per kg/min).
    • In children, administer 50% dextrose diluted to 25% in water at an initial dose of 1 mL/kg IV followed by an IV infusion of 10% dextrose at 2-3 mL/kg/h (3-5 mg glucose per kg/min).
    • If any difficulty in establishing IV access occurs, intramuscularly administer glucagon at 0.03 mg/kg (not to exceed 1 mg). Glucagon therapy has a transient effect and must be followed by an intravenous dextrose infusion as above.
  • Glucocorticoid deficiency
    • Treatment for FGD includes the replacement of glucocorticoids in order to avoid not only adrenal crisis but to allow normal growth in these children. Glucocorticoid replacement is achieved with hydrocortisone (12-16 mg/m2/24h PO divided into 3 doses). An equivalent dose of prednisone or dexamethasone may be administered to adults and the occasional patient who has difficulty with compliance. However, the potential for growth suppression with either prednisone or dexamethasone is greater than hydrocortisone; and, therefore, these agents should be used with caution. Administer the lowest dosage necessary to prevent symptoms of adrenal failure in order to avoid suppression of growth.
    • The adequacy of a treatment regimen may be clinically judged by noting decreased hyperpigmentation, absence of weakness, and normalization of blood sugar values. Adequate glucocorticoid replacement should not cause any adverse effects. Suppression of adrenocorticotropic hormone (ACTH) levels in FGD can be very difficult and, therefore, should not be used as a goal for therapy.
    • Overtreatment may result in poor linear growth, hypertension, edema, euphoria, insomnia, headache, steroid-induced acne, hyperglycemia, Cushing syndrome, peptic ulcers, and cataract formation.
    • Intercurrent illness or stress necessitates a readjustment of glucocorticoid dosage. For minor stress, such as a fever or upper respiratory tract infection, double or triple the glucocorticoid dosage until the illness has resolved. If the patient is ill with vomiting or diarrhea and cannot tolerate oral fluids and medication, hospitalization may be necessary. In individuals with severe stress, such as surgery or serious illness, the daily requirement for parenteral hydrocortisone is 40-100 mg/m2/24h (approximately 3-10 times the maintenance dose) in 3-4 divided doses.
    • With a major decline in the clinical condition of the patient (eg, development of hypotension, fever, decreasing mental status, acute intercurrent illness), promptly initiate treatment for possible adrenal crisis even before the diagnosis is confirmed.
    • The treatment of an adrenal crisis includes fluid, dextrose, and glucocorticoid replacement in order to restore fluid volume and prevent hypoglycemia and death. Adequately treat any precipitating event such as an infection.
    • Fluids administered (eg, 0.9% NaCl with 5% dextrose) should be administered at 1.5-2 times the maintenance rate (2250-3000 mL/m2/d). If the patient presents in shock, administer 0.9% NaCl (10-20 mL/kg) during the first hour of treatment. In addition, cortisol as a soluble ester (21-hemisuccinate or 21-phosphate) must be administered as an immediate IV bolus and every 6 hours (25 mg for infants; 50 mg for small children; 100-150 mg for larger children or adolescents).
    • Once the clinical condition improves, gradually taper down the steroid dosage by one third every day until the patient is back to maintenance dose.
    • All patients with FGD on replacement glucocorticoid therapy must be instructed on appropriate sick day management to adjust steroid dosage and taught how to administer parenteral hydrocortisone at home in cases of severe stress or when oral intake is compromised, and they should be provided a 24-hour physician contact number in case of emergency.
    • All patients with FGD should 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 if a visit to the emergency department becomes necessary.
  • Achalasia and alacrima
    • In those cases of FGD associated with achalasia and alacrima, these conditions should be carefully monitored and managed.
    • See Allgrove (AAA) Syndrome for full details.

Surgical Care

FGD associated with achalasia and Allgrove syndrome (AS) requires surgical intervention (see Allgrove (AAA) Syndrome).



See the list below:

  • Geneticist
    • Counsel patients with FGD and their families regarding the inheritance pattern of FGD, which is autosomal recessive.
    • Observe siblings and other close relatives for potential symptoms of FGD.
    • Screen family members with a Cortrosyn stimulation test to exclude this condition, which is potentially fatal if unrecognized and untreated.
    • Some cases of FGD have been associated with mutations in the MC2R gene. Confirming this diagnosis by DNA analysis may be possible in some cases.
  • Other consultations: In individuals with FGD associated with alacrima, achalasia, or AS, other consultations are warranted, including an ophthalmologist to assess alacrima and a neurologist to assess development and to address the neurologic manifestations of AS (see Allgrove (AAA) Syndrome).


In individuals with FGD, the renin-aldosterone axis is normal and no dietary manipulation, such as salt replacement, is needed.



No restriction of physical activity is necessary in adequately treated cases of FGD. In a small subset of patients with AS and autonomic disturbance, some activities may need to be limited because of problems, including recurring postural hypotension and decreased heart rate variability.

Contributor Information and Disclosures

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.


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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