A brain MRI was requested secondary to the elevated prolactin level which was compatible with empty sella syndrome. Conclusion The case presented here has the unique feature of adrenal deficiency presenting alongside the SAPHO syndrome and is presented as the first case reported. This syndrome could ...
prenatal diagnosis and congenital adrenal hyperplasia treatmentcongenital adrenal hyperplasia (CAH) - family of autosomal recessive disorders of adrenal steroidogenesisenzyme deficiency disorders - inactivating recessive mutations in gene encodinggene deletion syndrome and CAH and Ehlers–Danlos syndrome...
A primary defect in the ACTH receptor results in the ACTH-unresponsive syndrome (ACTH resistance), which is characterized by glucocorticoid and mineralocorticoid deficiency, and increased levels of plasma ACTH and hyperpigmentation. Achalasia and alacrima may also occur. The diagnosis of primary adrenal...
Adrenal crisisis characterized by an acute, rapid deterioration leading to hypotension and distributiveshockin those with adrenal insufficiency (AI). Owing to the nonspecific symptoms ofAI, diagnosis of AI is often delayed, and adrenal crisis may be the first presentation of undiagnosed AI. In a ...
Adrenal insufficiency requires prompt diagnosis in pregnancy, as untreated, it can lead to serious consequences such as adrenal crisis, intrauterine growth restriction and even foetal demise. Similarities between symptoms of adrenal insufficiency and those of normal pregnancy can complicate diagnosis. Previou...
However, the absence of laboratory abnormalities does not exclude the diagnosis of adrenal crisis. Chest radiography can be used to assess for tuberculosis, histoplasmosis, malignant disease, sarcoid, and lymphoma. Abdominal computed tomography (CT) scanning is used to visualize the adrenal glands for...
and thus the rapid recognition and prompt therapy for adrenal crisis are critical for survival even before the diagnosis is made. The recognition of various disorders that cause adrenal insufficiency, either at a clinical or molecular level, often has implications for the management of the patient....
diagnosis should be considered in young men with Addison's disease. Secondary adrenal insufficiency results fromACTH deficiency, due to hypothalamic or pituitary lesions or surgery, or suppression of the hypothalamic-pituitary-adrenal axis by exogenous steroid administration. The differential diagnosis of ...
43,99,146 Occasionally, ACTH insufficiency may not be present at the time of diagnosis but may develop progressively with time. Recessive mutations in the T-box factor TPIT (TBX19) have been identified in patients with severe, early-onset isolated ACTH deficiency with profound hypoglycemia, ...
Production of ACTH by nonpituitary tumors can also result in hypercortisolism. These tumors are frequently malignant and account for approximately 10% of cases of CS. The hypercortisolism of ectopic ACTH syndrome can precede a cancer diagnosis by many years and include lung, thyroid, gastrointestin...