Publications by authors named "Helga Gerl"

Article Synopsis
  • Ectopic secretion of adrenocorticotropic hormone (ACTH) is a rare cause of Cushing's syndrome, as seen in a 53-year-old woman diagnosed with ectopic ACTH syndrome due to a pheochromocytoma.
  • Endocrine tests confirmed high levels of urinary catecholamines and imaging revealed a left adrenal mass and a hypertrophic right adrenal gland, leading to further investigation of bilateral pheochromocytoma.
  • Following treatment with phenoxybenzamine and a bilateral adrenalectomy, the patient's Cushing's syndrome and hypertension were successfully resolved, highlighting the importance of considering these conditions during diagnosis.
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Hypokalaemic periodic paralysis is a fairly common complication of hyperthyroidism in Asian populations, but a rare event in Caucasians. In the present work we describe 2 male Caucasian patients with thyrotoxic periodic paralysis (TPP) as initial clinical manifestation of Graves' disease. Further diagnostic procedures demonstrated unilateral adrenal adenoma and hyperandrogenaemia in both patients.

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Article Synopsis
  • Cushing's syndrome (CS) is linked to low fat-free mass and a significant loss of body cell mass (BCM) and whole body protein, as demonstrated through various body composition assessment methods in a study involving patients with untreated CS.
  • Patients with CS had higher body weight and fat compared to nonobese controls, but their total body potassium (TBP) levels indicated substantial BCM loss, with lower arm muscle area suggesting protein deficiency.
  • Following pituitary surgery, while patients lost body weight and fat significantly, BCM and muscle mass did not improve, indicating that even after treatment for hypercortisolism, protein loss persists despite reductions in fat.
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The vast majority of Caucasian patients presenting with hereditary hemochromatosis demonstrate a single homozygous missense mutation in the HFE gene (C282Y). The underlying genetic defects in hemochromatosis patients of non-Caucasian origin are largely unknown. A 48-year-old man of Vietnamese origin presented with insulin-dependent diabetes mellitus, tertiary adrenocortical insufficiency, and laboratory results highly indicative of hereditary hemochromatosis.

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