ACTA ENDOCRINOLOGICA (BUC)

Introduction. Pseudoxanthoma elasticum (PXE) is a generalized progressive connective tissue disorder which affects elastic fibers and has multiple systemic manifestations. Case presentation. The patient, female, 39 years old, who was diagnosed in the teenage years with PXE, was hospitalized presenting asymptomatic nephrocalcinosis and increased plasma parathyroid hormone (PTH) levels. The laboratory data revealed: normal levels of calcium and phosphorus in serum, very low serum level of 25-hydroxycholecalciferol [25(OH)D] and low serum level of 1,25-dihydroxycholecalciferol [1,25(OH)2D3]. It was considered that our patient presented secondary hyperparathyroidism. The patient received therapy with alphacalcidol 0.5 μg/day and after 6 months of therapy, the evaluation of the plasma PTH level showed a normal value associated with an improvement of the serum level of the 25(OH)D (27.5 μg/L). Conclusions. Our case is original in terms of association of pseudoxanthoma elasticum with nephrocalcinosis and elevated plasma levels of PTH, which requires a differential diagnosis between normocalcemic primary hyperparathyroidism and secondary hyperparathyroidism. The very low level of 25(OH)D in serum associated with low levels of 1,25 (OH)2 D3 and a normal level of phosphorus led the diagnosis towards secondary hyperparathyroidism.

A 9 member independent panel of endocrinologists and pediatricians was convened to discuss basic issues with respect to definition, diagnosis, and clinical management of children born small for gestational age (SGA). SGA is defined as the situation when birth weight and/or length are at least 2 standard deviations (SD-s) below the mean for gestational age (<2 SD). The seven consensus guidelines agreed by the panel members are as follows: i. Children born SGA have a serious and permanent handicap of growth in adulthood if not treated. ii. Any term newborn lighter than 2500 g (male) or 2000 g (female) may be considered SGA. iii. When 4 years of age, all children born SGA will be evaluated for height, height velocity, bone age. Preterm children and multiplets should be included even if they were AGA. All children having concomitantly a SD score of < -2.5, a HVSD score < -1 and a bone age (Greulich-Pyle) smaller or equal to the chronological age are to be considered candidates to GH therapy. iv. All recognizable short stature syndromes must be extracted from the contingent of SGA by clinical and laboratory thorough evaluation and subjected to their distinctive growth disturbance protocol. v. The rest of candidates will receive GH therapy at 0.35 mg/kg/week daily dosage. A\r\nbiochemical screening including hormonal and IGF I determinations and also hematology should be performed before administering the first injection. GH dynamic tests are not recommended as a rule. vi. Effectiveness of the therapy will be appreciated after 6-12 months of uninterrupted therapy. Annualized growth rates higher than 7 cm/yr are considered proofs in favor of successful therapy. IGF I levels higher than 600 ng/ml should be avoided. vii. After the inclusion in therapy and the first evaluation, the patients follow-up should align to the standard provisions of the national or regional programs of GH therapy.

Objective: Co-existence of Cushing disease and Rathke?s Cleft Cyst (RCC) has been reported in a few cases in the literature so far. We herein describe a rare condition of Cushing disease that might originate from epithelium of RCC. \r\nCase: A 48-year-old woman was admitted to the hospital with complaints of headache, weakness, and weight gain. The patient underwent endoscopic transsphenoidal surgery due to Cushing Disease. Histopathological examination revealed cyst contents and walls compatible with RCC, and normal adenohypophysis and neurohypophysis tissues. Immunhistochemical staining with ACTH, GH, and prolactin were positive on the epithelium of the cyst. \r\nConclusion: In our case Cushing disease might be associated with hormonal activity derived from cyst wall of RCC or disappearance of a small microadenoma during surgical or pathological processing. According to recent data, origin of this lesion and histogenetic link between RCC with Cushing disease could not be explained.

Background. Advances in imaging techniques have led to increasing discovery of\r\nadrenal and pituitary &#8220;incidentalomas&#8221;, tumors with normal endocrine function and no\r\ncompression mass effects. We evaluated the age at diagnosis (AD) in patients with benign\r\nnon-functioning adrenal incidentalomas, as compared to pituitary non-functioning tumors,\r\nin a series of patients from a national center of endocrinology. Methods. From 2,123\r\nconsecutive patients with adrenal and pituitary tumors hospitalized between 1977 - 2009,\r\n2,069 patients were analysed. The study groups included: group A - 137 patients with\r\nadrenal incidentalomas (AI), group B - 534 patients with pituitary incidentalomas (PI).\r\nControl groups included 1,398 patients: group C1 147 patients with adrenal carcinomas or\r\nbenign hormone-secreting adrenal tumors, and group C2, 1,251 patients with pituitary\r\nsecreting adenomas or large non-functioning pituitary macroadenomas (NFA). Imaging was\r\ndone by computed tomography and/or magnetic resonance after 1981 and by skull X-ray or\r\npneumoencephalography before 1981. Results. Mean age AD is more advanced in patients\r\nwith AI (53 ? 11.9 years, range 21 - 78 yr) than in patients with PI (36.8 ? 13.1 years, range\r\n10 - 81 yr), p < 0.01. AD was higher in AI than in patients with secreting adrenal tumors,\r\nbut similar in patients with adrenal malignancy. There is an age-related increase in the\r\nproportion of AI among patients with adrenal tumors, and of NFA, but not of PI, among\r\npatients with pituitary tumors. In patients aged over 65 years, 74% of patients with adrenal\r\ntumors have AI, while only 18% of patients with pituitary tumors have PI and 42% have\r\nNFA. AD in NFA (49.3 ? 13.1 yr, range 12 - 79 yr) was more advanced than in PI (p < 0.01).\r\nAD does not correlate with tumor size. Tumor growth occurred in 24% of AI (follow-up 3.0\r\n? 2.8 yr) and only in 0.7% of PI, p<0.01 (follow-up 3.1 ? 2.5 yr).\r\nConclusions. Adrenal non-functioning benign tumors show a clear association with ageing,\r\nin contrast with pituitary incidentalomas. It seems unlikely that most pituitary incidentalomas in\r\nyoung patients become large NFA, whose development seems to be also age-related. It is tempting\r\nto suggest that pituitary tumorigenesis starts earlier than adrenal tumorigenesis.

Objective. A partial or complete deficiency of hormone secretion by pituitary gland (hypopituitarism) is commonly seen after a pituitary apoplexy caused by an infarction of a pituitary adenoma or pituitary hyperplasia (as in Sheehan’s syndrome). Hypopituitarism may also follow surgery, when hypovolemia, anticoagulation, fat/ air/bone marrow microemboli can provoke a pituitary infarction/hemorrhage. Other causes of abrupt hypophyseal hypoperfusion, as hypovolemia during a septic shock, could also contribute. In the last mentioned situation, due to the complex endocrine-immune interrelation, sepsis could be masked and improperly managed. Case report. We report a case of a 72 years-old Caucasian woman, previously healthy, who underwent an orthopedic surgery for a femoral fracture. This event apparently triggered a central-origin hypothyroidism, misinterpreted as “post-surgical psychosis”, which, in turn, masked a symptomatology of a subsequent severe sepsis. The patient was admitted in the infectious diseases department with a severe gut-origin sepsis, needing surgery and long course antibiotics. The pituitary insufficiency was reversed. Conclusion. Pituitary apoplexy is an uncommon but potentially life-threatening disease, and could be precipitated by successive events – in our case an orthopedic surgery and a subsequent severe sepsis. It needs recognizing (has intrinsic severity and could mask other serious conditions), treat and monitor (could progress and/or reverse).

Context. As we progress into the COVID-19 pandemic, it has become apparent that this infection is associated with a multitude of systemic effects, some involving the thyroid gland. The thyroid is also frequently affected in the HCV chronic infection. Objective. The objective of this study is to determine the effects of COVID-19 infection on the presence and severity of thyroid disorders associated with chronic HCV infection, at short and mid-term follow-up. Design. We prospectively evaluated patients with documented HCV- associated thyroid disease (with sustained virologic response after antiviral therapy). Subjects and Methods. The study group consisted of 42 patients with HCV- associated thyroid disease, diagnosed with COVID -19 infection between April and October 2020. We determined serum values of thyroidstimulating hormone, freeT3, free T4, anti-thyroglobulin antibodies and anti-thyroid peroxidase antibodies at one and three months after resolution of infection and compared them to the baseline characteristics of the patient. We also evaluated the changes in thyroid substitution treatments or antithyroid drugs. Results. At baseline, out of the 42 patients, 5 presented hypothyroidism under levothyroxine substitution therapy, while 2 presented hyperthyroidism under methimazole therapy; 37 patients had positive antithyroid antibodies. At one month follow-up, we note an increase in serum values of antibodies, with a decrease in TSH, freeT3 and freeT4 levels, correlated with the severity of COVID-19 infection. Two patients required discontinuation of levothyroxine. At 3 months follow-up, lower levels of antithyroid antibodies were recorded, with an increase in TSH levels. No medication doses were adjusted at this time. Conclusion. Among the systemic effects of COVID-19, the impact of thyroid dysfunction should not be underestimated, especially in the presence of pre-existing conditions, such as HCV infection.

Thyroid tumors are the most frequently reported endocrine malignancies. However thyroid collision tumors are rare pathological findings, representing less than 1% of thyroid cancers. In our case, a 50-year-old female patient presented with a complaint of neck swelling. During the exams, nodules were identified in both thyroid lobes. Pathologic analysis of a fine-needle aspiration biopsy(FNA) has been obtained from a 60×50 mm hypoechoic nodule raised suspicion of oncocytic carcinoma(OC). Another FNA was performed on a 17×11 mm hypoechoic solid nodule, revealing features of medullary thyroid carcinoma (MTC). Preoperative whole-body scans indicated no evidence of metastases. The patient subsequently underwent total thyroidectomy and central lymph node dissection. Pathological examination revealed OC, MTC, papillary microcarcinoma (PTMC), simultaneous metastasis of MTC and papillary thyroid carcinoma (PTC) to the same lymph node. The patient's calcitonin level was normalized postoperatively and I-131 ablation therapy was administered to the patient in the ATA high risk category. The patient was monitored under levothyroxine suppression. The simultaneous occurrence of OC, MTC and PTMC of the thyroid gland along with metastases of PTC and MTC in the same lymph node are reported in this case. To the best of our knowledge, this association had not been previously reported in the literature.

The International Society for Clinical Densitometry (ISCD) and the International Osteoporosis Foundation (IOF) developed the FRAX? Position Development Conference (PDC) in Bucharest, Romania, on November 14, 2010, following a two-day joint meeting of the ISCD and IOF called ?Interpretation and Use of FRAX? in Clinical Practice?, in order to bring answers to the numerous questions raised by the introduction and implementation of FRAX in clinical practice and to enhance the quality and clinical utility of fracture risk assessment (1-3).

Background. Dyspepsia is a popular complication in many disease, including diarrhea or constipation. This finding of antir- ghrelin serum can be used to improve the discomfort of patients. Objective. To study the effects of anti-r-ghrelin serum on plasma acylatedghrelin, growth hormone (GH) and insulinlike growth factor-1 (IGF-1) concentration, and mechanism of gastrointestinal (GI) motility (e.g. gastric emptying and intestinal transit) in female rats. Subjects and Methods. Female rats (estrus cycle confirmed) were fasted overnight and treated with i.p (intraperitoneal) injection anti-r-ghrelin serum, cholecystokinin 1 (CCK1) receptor antagonist, and ghrelin receptor antagonist (cortistatin-8, CST-8) to examine the GI motility. The concentration of plasma acylated ghrelin, GH, and IGF-1 was analyzed by ELISA assay. Results. Our data showed that (1) treatment with anti-r-ghrelin serum (diluted 1:100) inhibited the gastric emptying (12.12±2.191 %) but increased the concentration of acylated ghrelin (34.54±3.506 pg/ mL), GH (259.2±24.60 ng/mL) and IGF-1 (1033.9±33.66 ng/mL); (2) the CCK1 receptor antagonist, lorglumide (5 and 10 mg/mL/ kg) reversed the inhibition of gastric emptying (31.95±2.425 % and 30.50±3.624 %) and increased the concentration of plasma acylated ghrelin (101.8±9.422 pg/mL) and GH (508.5±44.11 ng/mL); (3) the ghrelin receptor antagonist, CST-8 under the doses of 1, 20, 40, 100 μg/mL/kg, promoted the gastric emptying (25.85±3.197 % to 33.43±2.513 %) in female rats. Conclusion. Anti-r-ghrelin serum both induced the concentration of plasma acylated-ghrelin, GH and IGF-1 as well as inhibited the GI motility by CCK1 receptor in female rats.

Obstructive sleep apnea consists in recurrent episodes of partial obstruction of the upper airways which can determine cessation of breathing during sleep causing intermittent hypoxia. The obstructive sleep disorders are encountered predominantly in obese patients with or without metabolic syndrome, that can affect the quality of life and life expectancy by increasing the cardiovascular risk of coronary artery disease, conductance disturbances, malignant arrhythmias, promoting atherogenic processes, determining sudden death and impairing several domains of cognitive function.