CYP24A1 gene defect manifesting with gestational hypercalcemia / A CYP24A1-gén terhességi hypercalcaemiát okozó defektusa

Hypercalcemia is a rare condition in pregnancy. It is most commonly caused by primary hyperparathyroidism and parathyroid hormone-related peptid (PTHrP)-producing malignant tumours, less frequently by increased intestinal calcium absorption, vitamin D intoxication, milk-alkali syndrome, and granulomatous diseases or lymphomas, in which vitamin D 1 alpha-hydroxylase expression is increased. Rarely, gestational hypercalcaemia may be caused by a disorder of vitamin D catabolism caused by loss-of-function mutations in the CYP24A1 gene. We report the case of a 34-year-old Caucasian female patient. She was diagnosed with hypercalcaemia, normal intact parathyroid hormone (PTH) level and lower left parathyroid adenoma. Investigations for malignancy showed no evidence of abnormality. The lower-left parathyroid adenoma was removed followed by cessation of hypercalcaemia. Fifteen months later, she had a spontaneous miscarriage at a gestational age of 8 weeks, when serum calcium was at the upper limit of normal. 25 months following parathyroid surgery, as a 12-week pregnant, our patient manifested with symptomatic, PTH-independent hypercalcaemia. 25-hydroxy-vitamin-D and PTHrP were within reference ranges while 1,25(OH)2D level was clearly elevated. Compound heterozygosity within the CYP24A1 gene was confirmed. By conservative treatment, no other complications were observed during pregnancy, and she finally gave birth to a healthy girl with a term. We present the difficulties of diagnosing and treating hypercalcaemia observed during pregnancy. According to our knowledge, our patient represents the first case of CYP24A1 gene defect diagnosed in Hungary.

[Thyrotropin-secreting pituitary adenoma]. / Tirotropintermelo hypophysisadenoma.

Thyrotropin-secreting pituitary tumors are rare causes of hyperthyroidism and account for less than 1% of all pituitary adenomas. The number of reported cases increased over the last few years as a consequence of the routine use of ultrasensitive immunometric assays for measuring thyrotropin levels. In the clinical practice, thyrotropin secreting adenomas must be considered in case of inappropriately normal to elevated thyrotropin in the presence of elevated free serum thyroid hormone levels. The authors present the case history of a middle aged female patient, who suffered from hyperthyreodism caused by a thyrotropin-secreting pituitary macroadenoma. After transient thyreostatic treatment, radical neurosurgical removal of the tumor was performed. The pituitary surgery was effective in restoring the patient's euthyreodism. The postoperative pituitary function remained intact. During follow-up, the recurrence of the disease was not detected. In our case report, the difficulties in the differential diagnoses are also discussed. Orv Hetil. 2020; 161(12): 474-478.

[Rare side effects in management of hyperthyroidism. Case report]. / A hyperthyreosis kezelésének ritka mellékhatásai.

The authors present the case history of a patient suffering from hyperthyroidism. The diagnostic procedures revealed the presence of propylthiouracyl induced vasculitis with renal involvement, that recovered completely after the withdrawal of propylthiouracyl and corticosteroid treatment. Thereafter, the patient was treated with thiamasol, that caused agranulocytosis with fever. After transient litium carbonate therapy a succesful thyreoidectomy was performed. Cumulative serious side effects of antithyroid drugs are rare. This case highlights some of the challenges and complications encountered in the management of hyperthyroidism.

[A rare form of adrenal Cushing's syndrome]. / Ritka etiológiájú Cushing-szindróma.

The authors present the case history of a 74-year-old male suffering from aortic coarctation. His endocrine evaluation was initiated because of severe hypokalemia. The diagnostic procedures revealed the presence of Cushing's syndrome caused by bilateral macronodular adrenal hyperplasia. Because of the high risk of surgical treatment due to his cardiac condition, the patient was treated with the steroid biosynthesis inhibitor ketoconazole, which resulted in a clinical and biochemical regression of hypercortisolism. After interventional treatment of the aortic coarctation the physical and cardiac condition of the patient showed a significant improvement, indicating that despite an old age, surgery offered a valuable tool for management of the disease. To the best knowledge of the authors, the coexistence of aortic coarctation and bilateral macronodular adrenal hyperplasia has not been previously reported. Orv. Hetil., 154(50), 1999-2002.