Primary macronodular adrenal hyperplasia (PMAH) Overview Primary macronodular adrenal hyperplasia (PMAH) is a rare disorder causing bilateral enlargement of the adrenal glands with multiple distinct nodules, leading to the overproduction of cortisol. It usually manifests in a person's 40s or 50s and results in Cushing syndrome Symptoms Because PMAH causes excess cortisol production that is independent of the pituitary gland, patients primarily show symptoms associated with Cushing's syndrome: Physical Changes: "Moon face" (rounded face), a "buffalo hump" (fat deposit between the shoulders), and increased abdominal fat. Skin Issues: Thin, fragile skin that bruises easily, slow-healing cuts, and red or purple stretch marks (striae). Bone and Muscle : Muscle wasting (especially in the upper thighs and arms) and bone density loss (osteoporosis). Excess cortisol heavily impacts metabolism and cardiovascular health: Hypertension: High blood pressure is a very co...
Familial glucocorticoid deficiency (FGD) Overview Familial glucocorticoid deficiency (FGD) is a rare, autosomal recessive genetic disorder where the adrenal glands fail to produce cortisol despite high levels of adrenocorticotropic hormone (ACTH). It is characterized by isolated glucocorticoid insufficiency without mineralocorticoid deficiency, resulting in severe hypoglycemia, hyperpigmentation, failure to thrive, and recurrent infections. Symptoms Hypoglycemic Seizures: Low blood sugar frequently causes seizures (convulsions), which can lead to coma or death if untreated. Hyperpigmentation: Excess ACTH overstimulates skin receptors, causing progressive darkening of the skin and gums, often most noticeable in skin creases, scars, or inside the mouth. Failure to Thrive & Growth Delay: Children may fail to gain weight or grow at the expected rate due to prolonged hypoglycemia and poor metabolism. Recurrent Infections: Patients, particularly older children, often suffer from freque...