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.

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McCune Albright syndrome (MAS) is a rare disease due to a sporadic mutation in Gs protein inducing polyostotic fibrous\r\ndysplasia, pigmented skin patches and hyper functioning endocrinopathies. We aimed to report its association with a hot thyroid nodule and gigantism.\r\nCase report. A man aged 37, with a history of pigmented skin lesions and lameness was referred for acromegaly. He was giant (height = 1.94 m/ target stature = 1.68 m), and had ?caf? au lait? spots. Biological analyses argued for pituitary mixed secretion (random growth hormone = 22 ng/ mL, N<5; prolactin = 27 ng/mL, N<10). Brain CT scan showed a pituitary process of 11x10 mm. Thyroid radioiodine scan revealed a hot nodule. Bone x-ray demonstrated large osteolytic lesions in the right femur and pelvis. He was operated on for endocrine tumours. The thyroid nodule\r\nwas benign and immunohistochemistry pituitary was positive for GH, prolactin and &#945; subunit.\r\nConclusion. Somatolactotrop adenoma causing gigantism associated with MAS is exceptional. It should be known, diagnosed, and treated early to avoid bone deformations\r\nand malignant transformation of osseous lesions under GH and/or IGF1 excess. One should also know that radiotherapy for the pituitary process is contraindicated, because of higher risk of sarcomatous transformation.

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.

Prolactinomas are the largest pituitary tumours (PT) in males, but huge ones (defined arbitrarily as ≥ 8 cm in height) are exceptional. They are usually diagnosed after impotency, headaches and visual troubles. Other manifestations such as memory troubles, unconsciousness, meningitis, epilepsy, psychiatric disorders, and exophthalmos are unusual. We aimed to report two cases diagnosed after epistaxis. Case 1. A man, aged 38, suffering from chronic nasal bleeding and impotency was diagnosed with a huge prolactinoma [90x90x80 mm, PRL=3737 ng/mL (n<15)] invading the nasal cavity. Nasal biopsy confirmed PT with positivity to PRL antibodies. After dopamine agonists intake, PRL and tumour size were significantly reduced and nasal bleeding disappeared.Case 2. A male aged 29 was referred for a huge PT [PRL= 2586 ng/mL, tumour= 130x80x60 mm] diagnosed after epistaxis. Nasal endoscopy showed a bleeding greyish tumour whose immunostaining confirmed PT. Dopamine agonists stopped epistaxis after PT tumour reduction. Conclusion. Both cases suffered from epistaxis secondary to huge prolactinomas invading the nasal cavity. So, chronic nasal bleeding should be kept in mind as a possible sign of PT. Nasal biopsy should be kept in mind for diagnosis confirmation. Nasal invasion by PT can induce suppurative meningitis which is a life threatening condition, fortunately not observed in our cases.

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.