Glucocorticoid deficiency 1

Glucocorticoid deficiency 1 is a rare, genetic, endocrine disease characterized by adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency, usually without mineralocorticoid deficiency.

Symptoms

The disease is characterized by severe hypoglycemia, failure to thrive, hyperpigmentation (due to elevated ACTH) and often seizures, with onset in neonatal period or early infancy.

Causes

Glucocorticoid deficiency 1 is caused by homozygous or compound heterozygous mutation in the gene encoding the melanocortin 2 receptor (MC2R) on chromosome 18p11.

Diagnosis

Diagnosis is based on clinical findings of glucocorticoid deficiency, elevated plasma ACTH levels and low cortisol levels. Genetic testing confirms the diagnosis.

Treatment

Treatment involves lifelong hormone replacement therapy with glucocorticoids.

Prognosis

With early diagnosis and treatment, prognosis is generally good.

See also

• Glucocorticoid
• Adrenocorticotropic hormone
• Melanocortin 2 receptor
• Hormone replacement therapy

External links

• OrphaNet

Glucocorticoid deficiency 1 Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.

Translate to: East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski