ACTA ENDOCRINOLOGICA (BUC)

Introduction.Cardiomyopathy secondary to severe hypocalcaemia can lead to death when misdiagnosed. However, it can respond favorably to calcium and vitamin D as in this observation.\r\nCase report. SB, 50 years old, was hospitalized for heart failure. He was operated on for cataracts and treated for epilepsy, but was not known as having heart problems.\r\nClinical examination revealed global heart failure. Chest x ray showed cardiomegaly with bilateral pleural effusion. Echocardiography demonstrated myocardium dilatation with an\r\nimpaired systolic function (ejection fraction = 38%, N≥ 60). Heart screening did not find any cause, but laboratory investigation diagnosed severe hypocalcemia (mean value: 26mg/L (N=80-105) or 0.65 mmol/L), high phosphorus (61.5mg/L, N=25-45), and low parathormone (6.51 pg/mL, N=15-65 pg/mL). Corrected calcium according to protidemia\r\nwas 0.69 mmol/L. Magnesium was normal. Brain CT scan showed bilateral and symmetrical calcifications of basal ganglia\r\narguing for Fahr?s syndrome. After calcium (1g) and vitamin D (2, then 3 μg/day) during one week, cardiac abnormalities improved promptly. Three months later seizures disappeared totally after stopping anti epileptic drugs.\r\nConclusion.The fast reversibility of heart failure and seizures under calcium suggests observed symptoms were due to hypocalcaemia, seemingly installed on a previously normal heart function. So, calcium assessment should be checked systematically in heart insufficiency.

Introduction. Pituitary apoplexy is a rare, acute, and life threatening condition due to haemorrhage or necrosis within a pituitary adenoma. Its prognosis may be poor leading to a fatal issue, or be good inducing a decrease or cure of the pituitary adenoma as in the case presented.\r\nCase report. A man, aged 28 years, having a history of well proved acromegaly [Growth hormone =GH=205ng/mL (n<5),\r\nand pituitary adenoma measuring 19x16mm] with diabetes mellitus (Glycaemia 4g/L, glycosuria++++, with ketoacidosis) treated with insulin for one year, was referred for\r\nnumerous hypoglycaemias which obliged him to stop insulin and diet. Just before, he had an acute episode of headaches, nauseas and vomiting. Clinical exam showed typical\r\nacromegaly, but pituitary assessment demonstrated low GH=0.05ng/mL, normal IGF1, without pituitary deficits. Routine analyses were normal. Fasting glycaemias, and glycaemias after glucose loading were normal too. Cerebral MRI showed a significant decrease in pituitary tumour (10 x\r\n16mm). Ten years later, glycaemias, GH, IGF1, and other pituitary functions remained normal, the necrotic pituitary process decreased up to 4.5 mm in height.\r\nConclusion. This clinical history and outcome argued for a pituitary apoplexy secondary to apparently spontaneous\r\nnecrosis of a somatotrop adenoma that induced a total cure of acromegaly and diabetes mellitus.

Reninoma (juxtaglomerular cell tumor) is a rare cause of renin-mediated hypertension. We reported a 18 year old woman with history of hypertension for 3 years. Laboratory findings showed severe hypokalemia and markedly increased levels of renin and aldosterone. Kidney ultrasonography, abdominal computed tomography and magnetic resonance imaging revealed a small mass in the middle region of the right kidney. The patient underwent nephron-sparing surgery; immunohistochemical results demonstrated typical features of reninoma. Postoperatively, blood pressure and potassium levels were normal at 1 month follow-up.

Introduction. Life threatening heart disorders secondary to paediatric and adolescent hyperthyroidism are exceptional.\r\nAim. We aimed to study cardiothyreosis frequency and outcome in children and adolescents with hyperthyroidism diagnosed between 1980 and 2010.\r\nMaterial and methods. In this retrospective study we observed 160 clinical and biological hyperthyroidisms in children (&#8804; 16 years) and adolescents (16-20 years).\r\nResults. Among them four girls aged 3, 16, 17 and 18, without previous familial history of heart diseases, had congestive heart failure (2.5%) without rhythmic troubles. Symptoms of cardiac insufficiency were resistant to digitalis and diuretics, but after anti thyroid drugs, there was an integral restitution of heart function in three\r\ncases and a persistent mitral, aortic and tricuspid regurgitation in one case arguing for heart rheumatic disease prior to hyperthyroidism.\r\nConclusion. Heart failure secondary to thyroid hormones excess is extremely rare before age of 20. Among 160 paediatric and adolescent hyperthyroidisms seen in 30\r\nyears, four girls had life threatening congestive cardiac insufficiency (2.5%), but after euthyroidism, heart insufficiency disappeared totally in all cases which\r\npleaded for a direct action of thyroid hormones excess on heart function.

Resistance to thyroid hormone (RTH) is an inherited disease transmitted in an autosomal dominant manner. The diagnosis is suspected when peripheral thyroid hormones are increased contrasting with normal or increased levels of thyroid stimulating hormone. Usually, people harboring the rare syndrome have few or no symptoms. However, in some patients signs of hyperthyroidism may be the revealing anomalies as in the following case: A 75 year-old woman was referred to our department for a benign adrenal incidentaloma. In her medical history she was treated for systemic hypertension and diabetes mellitus for 15 years. Clinical examination did not show any sign of adrenal secretion, but discovered rapid irregular cardiac rhythm with some hyperthyroidism features such as increased sweating and upper limbs and jaw tremor. Electrocardiogram showed atrial fibrillation. Hormonal assessment confirmed hyperthyroidism as FT4 levels were high (mean value: 30.2pmol/L (n= 9–23)), contrasting with non-suppressed TSH levels (13.8μU/mL (n = 0.2 – 4)). Cerebral magnetic resonance imaging was normal. Genetic testing revealed a new heterozygous mutation on exon 10 in the THRβ gene (c.1366T>G) compatible with RTH syndrome. Screening of her children showed the same hormonal profile in five out of ten. These results confirmed RTH and the familial character.

Bardet Biedl syndrome (BBS) is a rare autosomal recessive disease, characterized by clinical and genetic heterogeneity. Many genes are involved. BBS seems to be\r\ndifferent from Lawrence Moon BBS, although they share some clinical symptoms. The main clinical signs are obesity, pigmentary retinopathy, kidney malformations, and hypogenitalism. Our aim is to report a case with typical\r\nretinis pigmentosa, hypergonadotrophic hypogonadism and cerebellum cyst. Case report. A man aged 18 was referred for obesity and blindness. His family history was marked by obesity and diabetes mellitus type II. His medical history began very soon, as he was born with polydactyly, then he became obese and had difficulty to learn and to see. His blindness was progressive, and his puberty was delayed.\r\nClinical and biological exams showed: severe android obesity (BMI = 40kg/m?, waist circumference = 130cm), pigmentary\r\nretinopathy, small testes with high FSH = 17 mU/mL (1-8), and normal LH = 6.13 mU/mL (0.6-12)], empty sellae, cerebellum cyst, renal malformations, and signs of chronic infections. He did not have any spasticity or ataxia.\r\nGenetic study was not done. Conclusion. In this case, all features argued for typical BBS, except for testicular\r\ninsufficiency which is classically described as hypogonadotrophic. Infections should be treated vigorously to avoid renal insufficiency.

Medullary thyroid carcinoma (MTC) arising from aberrant tissue is almost unknown. Our aim is to report our first case.\r\nObservation. A woman, aged 46, was operated on for multinodular goiter with lateral mass considered as a metastasis. Thyroid surgery was well supported. The surgeon discovered a median thyroid which seemed normal, and a lateral mass totally separated from the thyroid. The pathologist who did very thin slices of the whole thyroid excluded the malignancy, but in the lateral tissue, he discovered a typical MTC with positivity to thyrocalcitonin (TCT), chromogranine A, and thyroid transforming factor1 antibodies. That lateral tissue did not contain any thyroid or lymphoid cells. The tumoral tissue was sent to another\r\npathologist who confirmed the diagnosis. In post operative period TCT was normal (mean value=4.5pg/mL, N<13), but urinary metanephrines were slightly increased (1.32\r\nmg/24h, N=1). Radiological explorations (except MIBG scintigraphy not done for low socioeconomic conditions) failed to show any pheochromocytoma. One year later that one was found by CT scan, and our patient was classified as multiple endocrine neoplasm type 2A. Laparoscopic surgery\r\ndone under thiopental and curare was uneventful, histological exam confirmed the pheochromocytoma. Genetic screening for RET proto-oncogene was negative arguing\r\nfor a sporadic case. Conclusion. MTC located in\r\naccessory thyroid is a scientific curiosity which can be mistaken with a lymph node metastasis. In our case a meticulous exam of the median thyroid and the lack of thyroid and lymph cells in the lateral mass were\r\nagainst the metastasis.