Glucocorticoid deficiency, familial

A rare genetic disorder affecting glucocorticoid production

Glucocorticoid deficiency, familial
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Fatigue, weight loss, low blood pressure
Complications	Adrenal crisis
Onset	Childhood or adolescence
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Blood tests, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Glucocorticoid replacement therapy
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Glucocorticoid deficiency, familial is a rare genetic disorder characterized by the body's inability to produce adequate amounts of glucocorticoids, which are essential hormones produced by the adrenal glands. This condition is also known as familial glucocorticoid deficiency (FGD) and is typically inherited in an autosomal recessive manner.

Pathophysiology

Glucocorticoids, such as cortisol, play a crucial role in regulating metabolism, immune response, and stress. In familial glucocorticoid deficiency, mutations in specific genes disrupt the normal function of the adrenal glands, leading to insufficient production of cortisol. The most commonly affected genes include MC2R (melanocortin 2 receptor) and MRAP (melanocortin 2 receptor accessory protein), which are critical for the adrenal response to adrenocorticotropic hormone (ACTH).

Clinical Presentation

Patients with familial glucocorticoid deficiency often present with symptoms such as chronic fatigue, weight loss, and hypotension (low blood pressure). Due to the lack of cortisol, individuals are at risk of experiencing an adrenal crisis, a life-threatening condition that requires immediate medical attention.

Diagnosis

Diagnosis of familial glucocorticoid deficiency involves a combination of clinical evaluation, blood tests to measure cortisol and ACTH levels, and genetic testing to identify mutations in the MC2R or MRAP genes. Elevated ACTH levels with low cortisol levels are indicative of the condition.

Treatment

The primary treatment for familial glucocorticoid deficiency is glucocorticoid replacement therapy. Patients are typically prescribed oral hydrocortisone or other glucocorticoid medications to maintain normal cortisol levels. Regular monitoring and dose adjustments are necessary to manage the condition effectively.

Prognosis

With appropriate treatment, individuals with familial glucocorticoid deficiency can lead normal lives. However, they must be vigilant about managing their condition and recognizing the signs of an adrenal crisis.

Genetics

Familial glucocorticoid deficiency is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. Parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition.

Also see

• Adrenal insufficiency
• Congenital adrenal hyperplasia
• Addison's disease
• Cushing's syndrome