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PubMed This is a summary of 19 peer-reviewed journal articles Updated
Pediatric Endocrinology

Standard Treatment and Daily Management

At a Glance

Children with familial glucocorticoid deficiency need lifelong hydrocortisone replacement, usually in several daily doses. Treatment is adjusted by tracking growth, weight, energy, and signs of under- or over-replacement; some genetic subtypes may also require fludrocortisone.

Managing Familial Glucocorticoid Deficiency (FGD) is a lifelong journey that relies on replacing the cortisol your child’s body cannot produce. While the diagnosis is rare, the treatment is well-established. The goal of daily management is “replacement therapy”—giving your child just enough medication to mimic the body’s natural rhythm without giving so much that it causes side effects [1][2]. Never self-adjust or stop your child’s medication without explicit instructions from your endocrinology team.

The Standard of Care: Hydrocortisone

The primary treatment for FGD is hydrocortisone, a glucocorticoid that acts exactly like the cortisol your child’s adrenal glands are missing [1]. Because hydrocortisone leaves the body quickly, it must be taken in multiple doses throughout the day.

  • Dosing Guidelines: Most children require a total daily dose of approximately 8 to 15 mg/m² (milligrams per square meter of body surface area) [3][4]. Your endocrinologist will calculate this based on your child’s height and weight.
  • Frequency: To maintain steady energy and blood sugar, the daily total is usually split into three or four doses (e.g., morning, midday, and late afternoon), though some children may do well on two doses [1][4]. Follow your doctor’s exact timing instructions.

Finding the Delicate Balance

Because there is no single blood test that can perfectly tell your doctor if the dose is right, monitoring is primarily based on how your child is growing and feeling [2][5].

Goal If Dose is Too Low (Under-replacement) If Dose is Too High (Over-replacement)
Growth Poor growth velocity; failure to thrive [5] Stunted height [6]
Weight Unexplained weight loss [5] Rapid weight gain; high BMI; “cushingoid” (rounded) face [7]
Energy Fatigue; weakness; lethargy [8] High blood pressure; irritability [5]
Skin Darkening of skin (hyperpigmentation) Thinning skin; easy bruising
Safety Risk of low blood sugar (hypoglycemia) [9] Long-term risk of weakened bones (osteopenia) [10]

Note: Hyperpigmentation and markedly high ACTH may remain even when the dose is perfectly adequate. While ACTH levels are measured to help with the diagnosis, doctors generally do not try to force ACTH into a “normal” range. Doing so often requires doses of hydrocortisone that are too high and could harm the child’s growth [2][11].

When Other Medications Are Needed

While “classic” FGD usually only affects cortisol, some genetic subtypes (like NNT or SGPL1) or rare cases of FGD can eventually involve mineralocorticoid deficiency [12][13].

If testing of renin, aldosterone, and electrolytes indicates a need, or if your child shows signs like salt-craving or dehydration, your doctor may add fludrocortisone [14][15]. This medication helps the body balance salt and water. For most children with classic FGD, however, salt-balancing stays normal, and fludrocortisone is not required [16][11].

Building Your Care Team

FGD is a complex condition that benefits from a multidisciplinary team. Your core team should include:

  1. Pediatric Endocrinologist: The lead specialist who manages hormone replacement and monitors growth [17].
  2. Geneticist: To help confirm the specific gene involved and provide counseling for the family [18].
  3. Nurse Educator & Pharmacist: To help you master the daily schedule and learn how to use emergency “sick day” medications [2][9].

By working closely with these specialists and maintaining a consistent daily routine, children with FGD can expect to grow, learn, and thrive [9][19].

Common questions in this guide

What medicine is usually used to treat familial glucocorticoid deficiency?
Hydrocortisone is the standard treatment because it replaces the cortisol that the adrenal glands cannot make. It is usually taken in several doses each day, and the pediatric endocrinologist sets the amount and schedule for the child.
How much hydrocortisone does a child with FGD need?
Many children receive about 8 to 15 milligrams of hydrocortisone for each square meter of body surface area per day, divided into three or four doses. The prescribed amount depends on the child's size and response to treatment, so caregivers should follow the endocrinology team's instructions rather than adjust it themselves.
How do doctors know whether a child's hydrocortisone dose is right?
Doctors mainly monitor growth rate, weight, energy, blood sugar risk, and signs of too little or too much medicine. There is no single blood test that gives a complete answer. ACTH, a hormone measured during evaluation, can remain high even when treatment is adequate, so doctors generally do not increase hydrocortisone only to normalize that level.
Does every child with familial glucocorticoid deficiency need fludrocortisone?
No. Classic familial glucocorticoid deficiency usually affects cortisol production while salt and water balance remains normal. Children with certain genetic forms, including NNT or SGPL1-related disease, may need fludrocortisone if symptoms or tests of electrolytes, renin, and aldosterone show mineralocorticoid deficiency.
What should we do if a child misses or vomits a hydrocortisone dose?
Families should ask the endocrinology team for clear, written instructions before this happens. The plan should explain what to do after a missed or vomited dose, when sick-day or emergency medicine is needed, and when to seek urgent help; caregivers should not improvise dose changes.
Which specialists help manage familial glucocorticoid deficiency?
A pediatric endocrinologist usually leads hormone replacement and growth monitoring, while a geneticist can help identify the gene involved and counsel the family. A nurse educator and pharmacist can help caregivers organize daily doses and learn emergency sick-day procedures.
What signs may mean a child's hydrocortisone dose is too low or too high?
Too little medicine may be associated with poor growth, weight loss, fatigue, weakness, darkening skin, or low blood sugar. Too much may contribute to rapid weight gain, slowed height growth, high blood pressure, irritability, easy bruising, or weakened bones over time. These signs can have other causes, so discuss changes with the child's treatment team.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is my child's current body surface area (m2), and what is their exact prescribed daily dose of hydrocortisone?
  2. 2.What specific signs in my child’s growth velocity, weight, and daily behavior will you use to monitor their treatment adequacy?
  3. 3.If my child seems consistently sluggish before their next dose is due, should we discuss adjusting the timing of their medication?
  4. 4.For my child's specific genetic type, how often will we evaluate their electrolytes and renin to check for mineralocorticoid deficiency?
  5. 5.Can you provide clear, written instructions on what to do if my child misses a dose or vomits their medication?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

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This page is for informational purposes only and does not constitute medical advice. Do not change or stop your child's medication without guidance from the pediatric endocrinology team.

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