ACTA ENDOCRINOLOGICA (BUC)

Context. Diabetes mellitus is the most frequent chronic complication in pregnancy and continues to contribute to increased perinatal morbidity and mortality in newborns. Macrosomia, respiratory distress syndrome, metabolic and electrolytic disturbances, and increased rates of congenital structural defects are well-known neonatal complications associated with maternal diabetes, even if well-controlled. Case report. A macrosomic infant born from an insulin-dependent mother, with uncontrolled diabetes and lack of adequate prenatal care, prenatally diagnosed with hydrocephaly showed a complicated postnatal course. Initial respiratory distress syndrome and transient hypoglycemia, rapidly corrected under treatment, were followed by persistent hypocalcemia and hyperphosphatemia due to hypoparathyroidism and evolving hydrocephaly. Ventriculoperitoneal shunting was followed by resolution of hypocalcemia, but seizures associated with schizencephaly and recurrent respiratory tract infections, aggravated by spondylocostal dysplasia, concurred to infant’s demise at the age of 5 months. Conclusions. The reported case is rare due to multiple aspects: persistent hypoparathyroidism, uncommon association of schizencephaly, and even rarely association with spondylocostal dysplasia, all these conditions requiring a multidisciplinary therapeutic approach. Also, the reported case is evocative for challenges associated with infants born from diabetic mothers.

Context. Accumulating data supports the key role of disrupted amino acids (AAs) metabolism in diabetes. Conflicting data regarding the relevance of serum AAs in diabetes and hypertension suggest that their relationship needs further investigation. Objective. To investigate serum AAs as biomarkers of increased BP variability evaluated during 24-hour ambulatory BP monitoring in the presence of type 2 diabetes. Design. Cross-sectional. Subjects and Methods. We analyzed serum AAs using targeted metabolomics (ultrahigh-performance liquid chromatography/mass spectrometry) in patients with type 2 diabetes (n=80). BP variability was assessed using 24-hour ambulatory BP monitoring. Participants were divided into two groups based on the 24-hour diastolic BP variability median value. Results. Aspartic acid, isoleucine, leucine, and phenylalanine were significantly lower, while glutamine was significantly higher in the group with higher diastolic BP variability (p-value <0.05 and variable importance in the projection >1). Corresponding pathways identified as disrupted in patients with diabetes and a higher 24-hour diastolic BP variability were phenylalanine, tyrosine, and tryptophan biosynthesis, phenylalanine metabolism, and alanine, aspartate, and glutamate metabolism (pathway impact value >0). Conclusions. We identified specific changes in serum AAs and target AAs pathways in relation to increased 24-hour diastolic BP variability in patients with type 2 diabetes.

Background. Idiopathic hypoparathyroidism is a rarely seen disease which progresses with the hypocalcaemia, hyperphosphatemia and low level of parathyroid hormones. The main symptoms such as leg cramps and generalized muscle weakness result from neuromuscular irritability due to hypocalcaemia, and skeletal abnormalities as well as ectopic calcifications are among the well known features. Case Report. A 32 year-old male patient was referred to our clinic with four years of progressive inflammatory low back and hip pain, prolonged morning stiffness. Upon physical examination limited movements and posture resembling that seen in patients with ankylosing spondylitis (AS) were observed. In laboratory investigation revealed hypocalcaemia (4.6 mg/dL), hyperphosphatemia (7.0 mg/dL) and hypoparathyroidism (7.2 pg/mL). Serum C reactive protein and erythrocyte sedimentation rate were normal. The direct graphic and sacroiliac magnetic resonance image were identified sacroiliitis. A rise in bone density in dual-energy x-ray absorptiometry was recorded. According to the Modified New York criteria, AS includes the whole diagnostic criterias completely. Conclusion. Idiopathic hypoparathyroidism, when undiagnosed for a long period, may result in extreme calcification of soft and bony tissues. The vertebral calcification may be so intense that it may result in an AS like clinical picture. Therefore, idiopathic hypoparathyroidism should also be considered in the differential diagnosis of AS .

Objective. Ectopic parathyroid adenoma is an uncommon cause of primary hyperparathyroidism. Apart from the usually described sites of ectopic parathyroid adenoma, anecdotal case reports of undescended parathyroid adenoma along the carotid artery have been described. Methods. We report a rare case of a 4 cm large parathyroid adenoma within the carotid sheath. Results. A 27-year-old lady presented with severe bony pains, history of height loss, fracture of left shaft femur following trivial trauma and renal calculi. On evaluation she had hypercalcemia with elevated iPTH suggestive of primary hyperparathyroidism. Ultrasound of neck and 99mTc sestamibi SPECT/CT incorrectly localised the lesion as right inferior parathyroid adenoma leading to a failed initial surgery. Later CECT of the neck identified adenoma posterior to right common carotid artery which was confirmed on repeat surgery and the patient was cured. Conclusion. Ectopic parathyroid adenomas are both difficult to localise and are a common cause of failed initial parathyroid surgery. Surgeons should exercise caution while removing a visually normal parathyroid gland. In case of any discordance with the pre-operative localization, a meticulous systematic dissection using the conventional approach should be performed and the possibility of an undescended gland in the carotid sheath should be considered.

Objective. This study aims to determine the prevalence of neuropathy in the prediabetic period. Design, Subjects and Method. Informed consent was attained from the patients who volunteered to participate in the study after ethics committee approval was obtained. Patients under the age of 18, having vitamin B12 or folic acid deficiency, history of collagen tissue-rheumatological disease, chronic kidney failure, cirrhosis, ethylism, thyroid disease, autoimmune disease, malignancy, tuberculosis, type 1 or 2 diabetes mellitus and pregnant women were excluded from the study. Patients diagnosed with prediabetes were evaluated by the DN4 neuropathy complaint questionnaire. Neuropathy was diagnosed in patients having a score of four or more. For the statistical analyses Student t-test, Pearson chi-square test, and Fisher's exact test were performed using the NCSS program. Results. A total of 224 volunteers, 167 women and 57 men, were included in the study. The mean age of the participants was 51 and the mean level of hemoglobin A1C was 5.9. Neuropathy was detected in 45% of the cases. Especially in women, there was a significant increase in the frequency of neuropathy compared to men. The most common complaints found in our study were burning sensation and numbness in the extremities. Conclusions. Similar to diabetic patients, prediabetic patients also have a high rate of neuropathy. For the early diagnosis of neuropathy and to be treated promptly, screening tests such as DN4 should be performed for all prediabetic patients. According to the test results, advanced examinations such as EMG or biopsy should be performed earlier.

Context. Hyponatremia is a common electrolyte abnormality. Objective. We report a patient who presented with hyponatremia and diagnosed as small cell lung cancer metastatic to hypothalamus and pituitary. Case report. A 68 year old male patient was admitted with fever and cough and pneumonia was considered. Serum sodium level was 113 mmol/L. Syndrome of in appropriate ADH (SIADH) is considered. Thyroid function tests and cortisol levels pointed out a central deficiency in both axes. Pituitary MRI was performed and a hypothalamic and pituitary mass were observed. Prednisolone therapy was started followed by L thyroxine replacement. A chest computer tomography (CT) was taken 2 weeks later revealed a mass lesion. Bronchoscopic biopsy was performed and histopathological diagnosis of the tumor was reported as small cell lung cancer. Result. Many mechanisms were considered as the cause of hyponatremia in our patient. SIADH, secondary adrenal insufficiency and secondary hypothyroidism due to pituitary metastasis are possible causes. Conclusion. The reason of hyponatremia is sometimes complex. When the underlying causes of hyponatremia are not evaluated in detail, many diagnoses can be missed.

Increase in obesity pandemic all over the world consequently leads to the investigation of possible causes. In addition to the traditional explanation using the so-called caloric model, the field of endocrine disruptors (EDs), especially subgroup called obesogens, offered more light on the pathogenetic mechanisms involved. After the Second World War a correlation between an increased production of exogenous pollutants and actual obesity epidemic was suggested. “Obesogen hypothesis” implies that molecules called obesogens inadequately stimulate the development of adipose cells and lipid accumulation in existing adipose cells, as well as change metabolic balance or hormonal control of appetite and satiety, leading to an increase in body fat mass. The list of obesogens includes some industrial chemicals, biocides, pharmaceuticals, pollutants, and smoke. EDs from the group of obesogens may exert their effects by the impairment in the programming development of adipocytes, by an increase in energetic depot in the adipose tissue, and by influencing neuroendocrine control of appetite and satiety. Increased scientific evidence on obesogens and their mechanisms of action may help to prevent obesity and mitigate deleterious effects of the environment on human life and development. New translational studies are needed to explain the possible mechanism proposed.

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Context. Benefits of vitamin D therapies in chronic kidney disease (CKD) are debated. Objective. To compare the effects of medium-term native (VitD) and active (VDRA) vitamin D on parameters of mineral metabolism and arterial function in non-dialysis CKD. Design. Open-label, active comparator, randomized study. Subjects and Methods. Forty-eight adult patients, vitamin D naïve, CKD stage 3 to 5 with increased parathyroid hormone (iPTH) were randomized to receive either oral cholecalciferol 1000UI/day (n=24) or paricalcitol 1mcg/day (n=24) for 6 months. Median changes at end of study vs. baseline in serum calcidiol, iPTH, total alkaline phosphatase (ALP), and cardio-ankle vascular index (CAVI) were the efficacy parameters. Results. Higher increase in calcidiol (15.5 [95%CI 13.3; 17.2] vs. 0.4 [95%CI −6.1; 3.7]ng/mL, p<0.001) were found in VitD group. Conversely, the decline of iPTH (−35.2 [95%CI −83; 9] vs. 13.3 [95%CI −8.1; 35]pg/mL, p=0.008) and ALP (−34 [95%CI −58; −11] vs. −10 [95%CI −23; −2] U/L, p=0.02) were greater after paricalcitol. More subjects experienced iPTH decrease in VDRA group (71% vs. 39%, p=0.03). The variation in CAVI and the incidence of hypercalcemia and hyperphosphatemia were similar. Conclusions. It seems that secondary hyperparathyroidism was more efficiently treated by VDRA, whereas cholecalciferol better corrected the calcidiol deficiency in non-dialysis CKD.

More and more couples are postponing their desire to have children until later periods in life. This is accompanied by a variety of both, medical and social problems. It is known that fertility in women begins to decline gradually from the age of 25 and decreases rapidly from the age of 35. On the other hand, many couples in the fourth decade of life are significantly involved in their careers and are sometimes even physically separated. This means that the probability of conception is inherently reduced, because sexual intercourse cannot take place regularly on fertile days. We report on a 35-year-old patient in whom we programmed the cycle with the progestin pill drospirenone, which resulted in a spontaneous conception and the birth of a healthy child.