ACTA ENDOCRINOLOGICA (BUC)

Background. Several studies observed metabolic disorders in pregnancy as risk factors for birth defects, including orofacial clefts. Diabetes is associated with approx. 10% of the pregnancies, but in Romania, less than 5%. An obese and diabetic woman has 3 times more risk for an offspring with a craniofacial defect than healthy women suggesting that diabetes mellitus contributes to their pathogenesis with complex mechanisms. Case report. We present the case of a newborn 4 days old, male with neonatal hypoglycemia, cleft lip and proportionate (symmetric) macrosomia. His mother is a 35 years old Caucasian woman with no important personal risk factors and no known history of diabetes mellitus. The glucose tolerance test performed to the mother at about 10 weeks during pregnancy led to the diagnosis of gestational diabetes. Discussion. The gestational diabetes mellitus diagnosed since the 10th week of pregnancy, the hyperglycemia status during pregnancy and the fetal overgrowth (macrosomia at birth) indicate the possible factors that lead to the Orofacial cleft (OFC). Conclusion. With the increased prevalence of obesity, diabetes, and the evidence of association of these syndromes with OFCs, it is recommended that mothers planning to become pregnant to follow healthy habits, maintain healthy weight, and be screened for possible diabetes prior to conception and early in pregnancy.

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Context. Acromegaly is a rare and serious syndrome and commonly associated with pituitary neoplasm. Classic cause of acromegaly in adults is the tumors of the somatotrophs that secrete growth hormone. Cirrhosis is the end stage of chronic liver disease and commonly a cause of death. It is\r\ncharacterized by diffuse hepatic fibrosis resulting in altered construction of the lobular parenchyma with widespread connective tissue septae, circumscribed\r\nregenerative nodules of hepatocytes and anastomoses between vascular channels linking portal and central vessels.\r\nObjective. To report the simultaneous cases of acromegaly and cirrhosis.\r\nCase report. A 62-year old, male patient came to the hospital complaining of severe abdominal swelling. Laboratory and imaging findings were compatible with the\r\npresence of hepatitis B virus related cirrhosis together with acromegaly. In this case, he had high GH level but lower IGF-1 level because of hepatic failure which can\r\nimpair IGF-1 production by the liver. Definitive diagnosis was made by pituitary MR and a 1 cm in diameter tumor was\r\ndetected.\r\nConclusion. This paper showed that cirrhosis can result in a low IGF-I level in patients with acromegaly. There is no\r\nprevious report available of the in the presence of coincidental combination of acromegaly and cirrhosis in a patient.

Context. Subacute thyroiditis (SAT) is a transient inflammatory disease that occurs often after an upper respiratory tract infection. Permanent hypothyroidism ratio is reported in 5-26% of the SAT patients. Objective. In this study, we tried to compare the treatment options on permanent hypothyroidism in our SAT patients. Design. It is a retrospective study. The medical records of SAT patients between 2010 and 2015 were analysed. Subjects and Methods. The medical records of 81 patients were analysed for demographic data, laboratory and clinical course, treatment and 1 year outcome. 81 patients were classified in steroid (n=29), nonsteroidal antiinflammatory drugs (NSAID) (n=33) and steroid+NSAID (n=19) groups. Results. Male/female ratio was similar and female domination was demonstrated in all groups. In the steroid and NSAID groups the pretreatment thyroid function tests were diagnosed as hyperthyroidism. In the steroid+NSAID group they were not diagnosed as hyperthyroidism in the beginning. In all groups the thyroid function tests were all in normal levels (p˃0.05) one year later. In all groups the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels were increased in the pretreatment period and decreased with the treatment. In total, right lobe involvement of thyroiditis was more detected (40/81 (49%)) (p=0.018). Permanent hypothyroidism observed in steroid, NSAID, and steroid+NSAID groups were 7/29 (24%), 5/33 (15%), 3/19 (16%) respectively (p˃0.05). Conclusion. In this study, treatment drug option did not affect the permanent hypothyroidism one year after in our SAT patients.

Context. Clinically „silent“ pheochromocytomas are very rare tumors. Objective. We present a patient with incidentally discovered, asymptomatic benign pheochromocytoma and discuss its presentation and management. Conclusion. Considering the increasing incidence of adrenal incidentalomas and, therefore, pheochromocytomas too, every incidentally found adrenal mass has to be carefully examined regardless of its clinical presentation in order to prevent fatal oversight of possible secreting nature and/or malignant potential of the lesion and to ensure an adequate curable treatment.

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Prolonged target gland failure causes pituitary hyperplasia, but rarely, secondary hyperplasias develop into autonomous neoplasms. We report herein a rare example of gonadotroph adenoma arising in a patient with prolonged hypogonadism due to Klinefelter syndrome. A pituitary macroadenoma with suprasellar extension was discovered incidentally by magnetic resonance imaging (MRI), in search for the cause of chronic saliva retention. His pre-operative serum concentrations of both luteinizing hormone (LH) and mostly follicle-stimulating hormone (FSH) were distinctly higher than normal, as expected, but the levels decreased after complete removal of the tumor, suggesting partial secretion of gonadotropins by the tumor. The surgically removed tissue showed a typical pituitary adenoma with distinct immunoreactivity for FSH (intense, homogeneous) and LH (scattered). In the fragmented parts of adjacent gland tissue, no hormone producing cell hyperplasia or presence of gonadal deficiency cells were detectable. In conclusion, our case is the description of a rare example of gonadotropin producing pituitary adenoma (FSH and LH) with increased serum levels of both gonadotropins in a patient with untreated Klinefelter syndrome.

Background. Atypical antipsychotics proved efficacy in monotherapy and more so in\r\nassociation with mood stabilizers, but choosing the atypical antipsychotic requires special\r\ncautions due to metabolic adverse effects. The aim: to verify if Quetiapine-valproate\r\ncombination improves rapidly acute depressive symptoms and has a good endocrinemetabolic\r\ntolerability. Case presentation. A 49 years male, bipolar patient, admitted for a\r\nmajor depressive episode. The patient also has type 2 DM for which he takes oral antidiabetics.\r\nWhen inpatient, he had persistent hyperglycemia (>250mg/dL). DM&#8217;s\r\ncomplications (poly-neuropathy, retinopathy and right bundle-branch block). Diabetic status\r\noriented us to choose quetiapine (600 mg/day) for both antidepressive effect and its safe\r\nmetabolic profile associated with valproate (1000 mg/day). Antidiabetic medication was\r\nadjusted following the clinical outcome. Instruments. for depression we used Montgomery-\r\nAsberg Rating Scale (MARS), for mania Young Mania Rating Scale (YMRS), Clinical\r\nGlobal Impression for Bipolar Disorder (CGI-BP), for diabetes (glycemia, HbA1c,\r\nglycosuria, body weight, adverse events and relapse were followed-up for 6 months. The\r\nevaluations were performed weekly during hospitalization (6 weeks) and then monthly, for\r\n6 months quetiapine together with valproate therapy led to remission of depressive\r\nsymptoms (MADRS <50% vs. baseline). At the same time DM was compensated with\r\nglimpirid and metformin (glycemia < 120mg/dL). These results maintained till the end of\r\nthe follow-up period. Conclusion. Quetiapine associated to valproate in acute and chronic\r\nmanagement of bipolar depression proved to be efficient and well tolerated, along 6 months,\r\nin patient with type 2 diabetes.

Using mathematical and clinical trial pharmacokinetics for Cabergoline (a dopaminergic agonist used in hyperprolactinaemia and long-term treatment of nonfunctioning tumours), a new ?hyperfractionation? effect is proven. This effect leads to higher steady state plasma concentrations of drug by fractionating multiple dose regimens in more frequent doses of smaller individual amounts. We generalize this effect by formulating a general mathematical condition for any drug to benefit from hyperfractionation. The effect is important in the long-term treatment of non-functioning tumours as one tries to achieve higher steady state plasma concentrations by using small individual doses in order to insure tolerability. This effect is more complex than the accumulation effect known in pharmacokinetics as a one parameter effect (frequency). Hyperfractionation is a two parameter effect for multiple dose regimens (frequency, dose amount).