Barakat syndrome diagnosed decades after initial presentation.

Summary: Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). A 64-year-old woman was referred to our endocrinology clinic for a switch in treatment (from dihydrotachysterol to calcitriol). She had progressive sensorineural deafness since the age of 18 and idiopathic hypoparathyroidism diagnosed at age of 36. Her medical history included osteoporosis with hip/spine fractures, nephrolithiasis and a family history of hearing loss, osteoporosis and kidney disease. The patient's clinical presentation indicated Barakat syndrome. Genetic analysis found a GATA3:c.916C>T nonsense variant. Further tests such as audiometry, labs and renal imaging supported the diagnosis. Due to rarity and manifold symptoms, diagnosis can be challenging. Optional GATA3 testing was suggested in 2018, except in cases of isolated sensorineural deafness or renal disease with pertinent family history. In isolated 'H' cases without 'D' and 'R', GATA3 studies are not required, as no haploinsufficiency cases were reported. Given the rise in genetic disorders, physicians should consistently consider rare genetic disorders in patients with suggestive symptoms, even decades after onset. Although diagnosis might not always impact management directly, it aids patients in accepting their condition and has broader family implications. Learning points: There is currently an important increase in genetic and clinical characterization of new orphan diseases and their causative agents. Unbiased re-evaluation for possible genetic disorders is necessary at every consultation. It is essential to recognize the differential diagnosis of idiopathic hypoparathyroidism. The patient's clinical presentation and family history can be important to establish the correct diagnosis. Physicians should not hesitate to search a patient's signs and symptoms online.

[VIPoma of the Pancreas]. / VIPom des Pankreas.

VIPoma of the Pancreas Abstract. A 50-year old man was admitted for evaluation of progressive, chronic diarrhea with loss of weight and recurrent hypokalemia. Eventually, a neuroendocrine tumor of the pancreas secreting VIP (VIPoma) could be diagnosed. The patient was cured by a pancreaticoduodenectomy (Whipple procedure). With this case, we want to highlight the importance of a structured work-up in chronic diarrhea including thorough history and clinical assessment, laboratory tests and imaging studies.

Synchronous pituitary and pineal gland lesions presenting with panhypopituitarism in a patient with widespread colorectal cancer: a case report.

A 60-year-old man presented to our hospital because of febrile neutropenia due to chemotherapy for his metastasized colon cancer. During hospital stay, polyuria and polydipsia were noted. He reported that his thirst had become increasingly intolerable over the last weeks. Diabetes mellitus was diagnosed. Polyuria and polydipsia persisted despite euglycemia under insulin treatment. Because of thirst and high urine volumes during the night, diabetes insipidus was suspected. Endocrinological work up revealed complete panhypopituitarism with impairment of all anterior and posterior axes. After substitution with hydrocortisone, levothyroxine and desmopressin symptoms resolved. MRI of the brain revealed one round, contrast enhancing lesion in the pituitary stalk and one in the pineal gland. Because of extensive extracerebral metastasis and poor performance status, the patient opted for radiation therapy only. He died 2.5 months later due to non-cerebral manifestations of his cancer before cerebral radiotherapy could be initiated.

[Suspected rare manifestation of a thyroglossal and lateral cervical cyst-a diagnostic and therapeutic approach]. / Verdacht auf seltene Manifestation einer medianen und lateralen Halszyste ­ Diagnostik und therapeutisches Vorgehen.

A 34-year-old female patient presented to our department with a 1.5 cm midline cystic lesion of the neck. A second cystic mass was found in level 2 of the left lateral neck. Following complete resection, histopathological examination revealed the diagnosis of a dystopic papillary thyroid carcinoma. Total thyroidectomy and bilateral neck dissection were performed. The patient developed transient postoperative hypoparathyroidism. The specimen showed four intraparenchymal parathyroid glands. Treatment with radioactive iodine was conducted.

[Paraneoplastic Cushing's syndrome as cause of refractory hypokalemia]. / Paraneoplastisches Cushing-Syndrom als Ursache von therapierefraktärer Hypokaliämie.

HISTORY: A 58-year-old man presented with refractory hypokalemia and rapid weight gain. On examination, he had high blood pressure, central obesity and bilateral pitting edema. FINDINGS AND DIAGNOSIS: Biochemical tests showed hypokalemic metabolic alkalosis due to ACTH-dependent hypercortisolism. CT of thorax and abdomen revealed a pulmonary and a right adrenal mass. Biopsy of the pulmonary mass led to the diagnosis of an ACTH-producing small cell lung cancer. TREATMENT AND COURSE: Under treatment with ketoconazole and chemotherapy a tumor response was reached and the hypercortisolism was controlled. Since the right adrenal mass remained stationary under chemotherapy, an incidental adrenal adenoma seemed the most likely diagnosis. CONCLUSION: The diagnosis of paraneoplastic Cushing's syndrome can be challenging, since classical clinical features of hypercortisolism may still be absent, even if the underlying cancer is already advanced. Therefore high clinical suspicion is warranted, especially in patients presenting with new-onset refractory hypokalemia, metabolic alkalosis and arterial hypertension.

[Amiodarone and thyroid]. / Schilddrüse und Amiodarone--wenn das Antiarrhythmikum die Schilddrüse aus dem Takt bringt.

Amiodarone is a widely used antiarrythmic drug and can lead either to hypothyroidism or hyperthyroidism due to its molecular structure which is similar to levothyroxin. Amiodarone induced hypothyroidism can be treated easely with hormonal subsitution. Hyperthyroidism is more challenging. There exist two forms of amiodarone-induced Hyperthyroidism (AIT): AIT type 1 is directly related to the iodine compound of amiodarone and responds to thyreostatic therapy. Type 2 is a consequence of the direct toxicity of amiodarone to the thyroid gland and is treated primarily with glucocorticoids. However, this differentiation often is impossible in clinical settings and a pragmatic approach is needed.