[Endocrine abnormalities in a young patient with metastatic cancer - case 3/2013]. / Endokrine Veränderungen bei einem jungen Patienten mit metastasiertem Tumorleiden - Fall 3/2013.

HISTORY AND ADMISSION FINDINGS: We report on a 24-year-old male patient who presented with worsening of the general condition and abdominal pain. INVESTIGATIONS: On physical examination, gynecomastia was noted. Laboratory tests showed manifest hyperthyroidism. The beta-hCG levels were markedly increased. By ultrasound, the thyroid gland was hyperperfused without thyroid nodules. Several large echo mixed lesions were found in the liver. The testes appeared normal. DIAGNOSIS: In light of the typical laboratory findings, a non-seminomatous extragonadal germ cell tumor was diagnosed. Hyperthyroidism was most probably HCG induced. TREATMENT AND COURSE: Initially the patient was treated with thyreostatic drugs. After initiation of chemotherapy and a marked decrease in beta-hCG, thyreostatic therapy could be terminated. CONCLUSIONS: Germ cell tumors may cause an increase in beta-hCG concentration. By cross-reacting with the TSH-receptor this could induce hyperthyroidism. Germ cell tumors are therefore a rare differential diagnosis of hyperthyreoidism.

[A rare differential diagnosis of primary hyperparathyreoidism - case 12/2011]. / Seltene Differenzialdiagnose des primären Hyperparathyreoidismus - Fall 12/2011.

HISTORY AND ADMISSION FINDINGS: A 51-year-old woman was admitted from a mental institution for evaluation of hypercalcemia. She was treated with lithium for a bipolar disorder since 25 years. She complained of polydypsia and polyuria. The physical examination findings were unremarkable up to manic symptoms. INVESTIGATIONS: Laboratory values showed elevated serum calcium and parathormone. Serum phosporus was within the normal range. Neck ultrasound revealed a goiter with one nodule in the right thyroid lobe and a suspected enlarged lower left parathyroid gland. The sesta-MIBI-scan failed to detect an adenoma. DIAGNOSIS, TREATMENT AND COURSE: In light of long-term treatment with lithium and negative MIBI-scan, lithium-associated- hyperparathyreoidism (LAH) was suspected. The patient refused further preoperative imaging studies, such as c-11 methionine positron emission tomography and thyroid scan. Until surgery after stabilization of the psychiatric condition, treatment with the calcimimetic cinacalcet was initiated. CONCLUSIONS: Long-term lithium therapy is frequently associated with LAH. The criteria of diagnosis and therapy are similar to those of primary hyperparathyroidism. Lithium alters the set-point of the calcium-sensing-receptor and results in elevation of parathormone und hyperplasia of the parathyroid glands. Patient with LAH have a higher prevalence of multiglandular disease compared with sporadic hyperparathyreoidism. Thus, the preoperative localization is challenging. After surgery recurrent or resistant disease is more frequent. The calcimimetic cinacalcet is a potential alternative for patients who have contraindications to surgery, refuse surgery, or experience recurrent disease after surgery.

[Normokalaemic primary aldosteronism due to an aldosterone-producing adrenal adenoma--Case 06/2009]. / Normokaliämischer primärer Hyperaldosteronismus infolge eines Aldosteron-produzierenden Nebennierenadenoms--Fall 06/2009.

HISTORY AND ADMISSION FINDINGS: A 39-year-old patient presented with normokalaemic therapy refractory arterial hypertension despite of four antihypertensive drugs for further diagnostics. INVESTIGATIONS: Ultrasound displayed no evidence of renal artery stenosis. Furthermore, the kidneys were normal sized and morphologically without pathological findings. Renal function was normal. Free cortisol and catecholamine levels in a 24-hr-urine sample were within the normal range. Plasma renin activity was reduced and both the plasma aldosterone concentration and the aldosterone to renin ratio were elevated. A saline infusion test showed no suppression of the plasma aldosterone concentration, nor did an orthostatic testing show an increase. MRI revealed an adenoma of the right adrenal gland. DIAGNOSIS, TREATMENT AND COURSE: The results were consistent with primary aldosteronism due to an aldosterone-producing adenoma of the adrenal gland. The patient underwent laparoscopic adrenalectomy. The histological findings confirmed an adenoma of the adrenal gland. Three months later, blood pressure was normal under a single treatment regimen with an AT(1) receptor blocker. CONCLUSIONS: Screening for endocrine causes of hypertension is recommended in young patients, therapy refractory hypertension, and in hypokalaemic hypertension. Normokalaemia does not exclude primary aldosteronism as the underlying cause of hypertension.

[Secondary adrenal insufficiency after local injections of triamcinolone acetonide]. / Sekundäre Nebennierenrindeninsuffizienz nach lokaler Triamcinolonacetonid-Gabe.

HISTORY AND ADMISSION FINDINGS: Two women, aged 74 and 57 years, were admitted for endocrinological work-up. The 74-year-old women had clinical signs of adrenal insufficiency after she had been given one triamcinolone acetonide intra-articular injection 3 months before. The 57-year-old women who had over several years been repeatedly received local triamcinolone acetonide injections for degenerative changes in her cervical spine for several years and needed reoperative investigation. Physical examination was unremarkable in both patients: they had no signs of Cushing's syndrome. INVESTIGATIONS: Serum cortisol and plasma adrenocorticotropic hormone (ACTH) were reduced in both patients. Endocrinological tests in the 74-year-old patient showed reduced free cortisol excretion in the urine, normal cortisol response in the ACTH test and subnormal cortisol stimulation during the corticotropin-releasing-hormone test and the insulin tolerance test. Magnetic resonance imaging of the sella was normal. The 57-year-old patient had a reduced cortisol response. DIAGNOSIS, TREATMENT AND COURSE: The results of endocrinological tests in both patients were consistent with secondary adrenal insufficiency after local injection of triamcinolone acetonide. In the 74-year-old patient substitution treatment with hydrocortisone was started and resulted in rapid improvement of the symptoms. Perioperative intravenous substitution was advised for the 57-year-old patient . CONCLUSIONS: Locally administered synthetic glucocorticoids can be associated with systemic adverse effects, such as secondary adrenal insufficiency. Clinically significant secondary adrenal failure can be produced not only by long-term administration of triamcinolone acetonide, but possibly also if it is injected just once.

Detection of the apolipoprotein B-100 arg(3500) > gl mutation in familial defective apoB-100 by temperature-gradient gel electrophoresis.

Familial defective apolipoprotein B-100 (FDB) is caused by a point mutation in exon 26 of the apolipoprotein B gene leading to a decreased binding to the LDL-receptor. Patients with FDB have hypercholesterolemia and atherosclerotic disease. Since other mutations of apoB-100 could also cause binding abnormalities we established a temperature-gradient gel electrophoresis (TGGE) method and started to screen hypercholesterolemic patients for the presence of point mutations in this region. 4 of 43 patients were positive according to TGGE and subsequent sequencing showed the familiar guanine to adenine transition in codon 3500 in all cases.

Recovery of the hypothalamic-pituitary-adrenal axis from suppression by short-term, high-dose intravenous prednisolone therapy in patients with MS.

We have studied the recovery of the hypothalamic-pituitary-adrenal (HPA) axis from inhibition by short-term, intravenous high-dose, corticosteroid therapy (IVHDCT) without subsequent oral replacement therapy in 10 patients with relapsing-remitting or progressive multiple sclerosis (MS) using the human corticotrophin-releasing hormone (hCRH) test. There was significant HPA suppression with profoundly decreased basal and peak plasma ACTH and cortisol levels 24 h after cessation of therapy. However, at 48 h the pituitary response was greatly enhanced with peak ACTH concentrations rising by more than 100% over baseline values in 7 of 10 patients. Basal and stimulated ACTH concentrations returned to pre-treatment levels at 120 h. Basal and stimulated plasma cortisol levels remained subnormal in 6 patients 120 h after IVHDCT. We conclude that IVHDCT without oral replacement therapy in MS patients is endocrinologically safe.

Systemic vasculitis positive for circulating anti-neutrophil cytoplasmic antibodies and with predominantly neurological presentation.

A 57-year-old male patient suffering from dramatically deteriorating diffuse and focal central nervous system symptoms was admitted to hospital after a short prodromal period in a somnolent state. He was diagnosed as having systemic vasculitis positive for circulating anti-neutrophil cytoplasmic antibodies, primarily involving the brain, but also most other organ systems. Circulating anti-neutrophil cytoplasmic antibodies are highly specific for Wegener granulomatosis, though they have been detected in rare cases of other vasculitic syndromes. Central nervous system lesions as presenting signs in Wegener granulomatosis have to be regarded as rare. This case nonetheless suggests that Wegener granulomatosis has to be considered in patients with a predominantly cerebral manifestation of a vasculitic syndrome.