ACTA ENDOCRINOLOGICA (BUC)

Thyrotoxic hypokalemic periodic paralysis (TPP) is a disorder leading to hypokalemia and muscle weakness. It mainly affects the Asian population, and it is rare in the Balkan and Caucasian people. We describe a case of a 34 year-old male presenting with TPP. To our knowledge, this case is the third Turkish patient diagnosed as TPP in the English medical literature. He was admitted to the Emergency Department (ED) with generalized weakness. Initial laboratory analysis showed that serum potassium was 1.6 mmol/L. His serum potassium was normalized after intravenous administration of potassium chloride (KCl) of 80 mmol over 4 h and 40 mg of propranolol administered orally, and then his generalized weakness was recovered. Thyrotoxicosis was treated with propylthiouracil and propranolol.

Patients with chronic schizophrenia and psychosis are more prone to develop hyponatremia. Hyponatremia could be due to medications e.g. antidepressants/antipsychotics or secondary to psychogenic polydipsia. They often present with altered consciousness, seizures and falls. Rapid correction of hyponatremia in patients with psychogenic polydipsia has been associated to cause rhabdomyolysis, an under-recognized yet serious condition which if left untreated can result in various complications e.g. acute kidney injury, electrolyte abnormalities. We report a case of young patient who had background illness of schizophrenia and presented to department with severe hyponatremia secondary to psychogenic polydipsia and was eventually diagnosed as case of rhabdomyolysis due to rapid correction of hyponatremia. Objective of case report is to highlight the correct diagnosis of underlying cause of hyponatremia and challenges associated with managing rhabdomyolysis with IV fluids that can result in worsening of hyponatremia, hence emphasizing the importance of close monitoring of sodium levels and measurement of creatine kinase in any patient who presents with severe hyponatremia, particularly in the presence of other risk factors for rhabdomyolysis and consideration of careful fluid administration strategies in relation to the relative onset and risk of over-correcting hyponatremia

Human populations are faced to the COVID-19 pandemic due to the emerging SARS-CoV-2 coronavirus originating from Wuhan (China) and with dramatic Public Health consequences. Despite periods of panic, the scientific community demonstrated an incredible innovation potential and energy ending up in one year with new vaccines to be used in population. Researchers are interrogating on how individual genetic differences contribute to the diversity of clinical manifestations or ethnic and geographic disparities of COVID-19. While efforts were spent to understand mechanistically the infectious potential of the virus, recent progresses in molecular genetics and bioinformatics allowed the characterization of viral sequence and construction of phylogeographical maps of viral dispersion worldwide. These data will help understanding epidemiological disparities among continents and ethnic populations. Much effort was also spent in analyzing host genetics by studying individual genes involved in innate and immune responses or explaining pathogenesis of comorbidities that complicate the fate of elderly patients. Several international consortia launched already Genome wide Association Studies (GWAS) and whole genome sequencing strategies to identify genetic markers with immediate application in patients at risk of respiratory failure. These new genetic data are important not only for understanding susceptibility factors for COVID-19 but they also contain an important message of hope for mankind warranting our survival and health.

Adipose tissue is a major store of energy for the human body. Polycystic ovary syndrome (PCOS) patients are more prone to abnormal production of some regulatory proteins secreted from the adipose tissue. This study aims to investigate serum levels of adiponectin and their correlation with metabolic and endocrine indices in PCOS. Patients and methods. This study was conducted on 61 women with PCOS and 17 healthy women whose age and body mass index (BMI) were matched. Adiponectin serum levels were assessed and correlated with parameters of metabolic and hormonal disturbances. Results. In PCOS women, serum levels of insulin, HOMA-IR, testosterone, LH, and LH/FSH were significantly higher, while SHBG was lower than in healthy women. Lower adiponectin was observed in both PCOS groups compared to the control group. Serum levels of adiponectin correlated inversely with BMI (r=- 0.56; p<0.001),WC(r = -0.452;p<0.001), insulin levels (r= - 0.409; p<0.001), HOMA-IR (r= -0.368; p<0.001), and free androgen index (FAI) (r= - 0.53; p<0.001). A positive correlation was found between adiponectin and LH (r= 0.35; p<0.001), LH/FSH ratio (r= 0.33; p<0.001) and SHGB (r= 0.51; p<0.001). Serum adiponectin levels are decreased in women with PCOS compared to the control group. The decrease in adiponectin concentration indicates its potential role in metabolic disorders in the pathogenesis of PCOS, as well as in the development and progression of insulin resistance in PCOS patients.

Context. Therapeutic plasma exchange (TPE) provides time for thyroidectomy in thyrotoxic patients. Objective. TPE is indicated in cases where antithyroid medications cannot be used due to the side effects or attain no adequate hormonal suppression response at the highest dosage and in cases of rapid onset of clinical symptoms. This study presents the treatment results of patients who underwent TPE and were subsequently operated for thyrotoxicosis. Design. The patients who underwent thyroidectomy and TPE between January 1999 and February 2019 were retrospectively analyzed. Subjects and Methods. The files of 27 patients with thyrotoxicosis who performed TPE prior to surgery were analyzed in relation to the demographic and clinical features. Results. We included 15 (55.6%) females, 12 (44.4%) males with a mean age of 44 (23-82) years. The pre-TPE mean free thyroxine (fT4) level was 12 (5-46) pmol/L while free tri-iodothyronine (fT3) level was 34 (17- 141) pmol/L. The post-TPE fT4 level was 6 (3-10) pmol/L while the fT3 level was 21 (12-41). There was one case of an allergic reaction during the procedure. In the postoperative follow-up, there was transient hypocalcemia in 8 (29%) patients, permanent hypocalcemia in 1 (3.7%) patient, and surgical site infection in 1 (3.7%) patient. Conclusion. Preoperative TPE is an alternative treatment option for thyrotoxic patients. This is an especially effective treatment for patients with inadequate response or adverse reaction to antithyroid drugs or patients who need urgent surgery for thyroid storm.

Turner syndrome (TS) is the most common form of chromosomal hypogonadism in women. Clinical features are correlated with the haploinsufficiency of X genes which produces a precocious ovarian degenerescence, sexual hormones secretion deficiency and primary sterility. The review of medical literature reported 87 patients with different cytogenetic form of TS that have 185 pregnancies. In 45,X/46,XX women were described 61 pregnancies in 32 patients. In X homogeneous monosomy were described 43 pregnancies in 21 patients followed by X trisomy mosaicism which was identified in 9 women with 45,X/47,XXX formula (20 pregnancies) and at 11 patients was described 45,X/46,XX/47,XXX formula (35 pregnancies). An increased risk for abnormal pregnancies was proved by frequent miscarriages: 30 cases in 45,X/46,XX, followed by 16 in 45,X/46,XX/47,XXX and 13 in X homogeneous monosomy. Other possible gestational complications in patients with TS could be: dissection of aorta, endocrine diseases (diabetes mellitus, hypothyroidism), arterial hypertension and eclampsia, dystocia. The spontaneous menarche and pregnancy in TS patients are rare events, and usually the gestation is marked by obstetrical complications. The patients with 45,X/46,XX chromosomal formula have the highest risk for chromosomal abnormality in foetus and for miscarriage. The worst prognosis was cited for TS patients with partial X monosomy.

Percutaneous Ethanol Injection Therapy (PEIT) of parathyroid adenoma under ultrasound guidance is individually used as an alternative procedure in management of primary hyperparathyroidism in polymorbid elderly patients with increased surgical risk. The treatment is also suitable for patients who already underwent surgery of the thyroid gland, and any other surgery is associated with a higher risk of postsurgical complications. We present a case of a 92-year-old male patient, who underwent thyroidectomy for papillary thyroid carcinoma three years ago. Part of the regular annual followup visits was also ultrasonography, which showed a solitary parathyroid adenoma at the site of the removed thyroid gland. Given the underlying condition, polymorbidity and age of the patient, the PEIT method was successfully used in the therapy. The coincidence of adenoma and papillary thyroid carcinoma is also interesting.

Aim. To correlate the profile of CFTR gene mutations in patients from Romania with the ethnogenesis of Rumanian people. Patients and methods. One hundred sixty-five patients with clinical diagnosis of CF and elevated values at sweat test were included in the study. Samples of EDTA-anticoagulated blood were obtained by venipuncture, sent to our laboratory and DNA was extracted from leukocytes. For the majority of blood samples we used standardized methods for analysis of at least 18 common mutations. Ten DNA samples were analyzed for 38 CFTR mutations with a kit recently introduced in our program of investigations of CFTR gene mutations.Results. The most frequent mutations in CF patients from Romania are F508del (53.6%), G542X (4.6%), W1282X (2.1%) and CFTRdele2,3(21kb) (1.2%). Other mutations were detected at frequencies less than 1.0%. The profile of the CFTR gene mutations in Rumanian patients appears to be very different from its counterpart profile in Romania’s neighbour countries and rather similar with the profile of mutations in France, Italy and Spain (which, similar to Romania, are Neo-Latin countries). A notable difference between Romania and these Neo-Latin countries is the presence of a Slavic mutation, CFTRdele2,3(21kb) in Rumanian patients; this might reflect the Slavic component in the ethnogenesis of Rumanian people.Conclusion. The profile of the CFTR gene mutations in Rumanian patients confirms the overwhelming evidence regarding the ethnogenesis of Rumanian people from the admixture of Dacians or Getae (the ancient autochtonous inhabitants of the territory of present-day Romania) with Roman (or Romanized) legionnaires and colonists, forming the Daco-Roman population (the basis of Rumanian people), who assimilated the Slavs that entered in the territory of present-day Romania in the VIth century.

We present a 6 months male infant with persistent hyperinsulinemic hypoglycemia of infancy (PHHI)- the former nesidioblastosis. The main presenting symptoms were recurrent episodes of hypoglycemic seizures (persistent hypoglycemic status of 30 mg/dL serum glucose) high requirements of i.v. glucose for maintaining euglycemic status. The main diagnostic markers were: high insulin to glucose ratio,negative urinary ketones, normal growth hormone level, normal cortisol level during hypoglycemia, no visible pathological masses on abdominal and cranial MRI . As a medical treatment we used Octreotid and we needed several adjustments of the dose to maintain euglycemic status, between 4 ?g/kg/day s.c. and 10 ?g/kg/day s.c. Our goal were to prevent the neurological damage and the minimum compromise in the fragile equilibrium of advantages and disadvantages of the treatment in order to maintain the best outcome we could get. Our patient is in his second year of treatment with no severe hypoglycemia during the last 12 months and with good neurological and physical development. The long term outcome is difficult to be predicted.

Introduction. Recent studies suggest that nutritional status can modify the association\r\nbetween high iPTH and mortality, especially in diabetics and older hemodialysis patients (HDP).\r\nAim. To assess the impact of mineral metabolism parameters in the survival of HDP\r\nin our area and to evidence the factors that influence iPTH levels in our HDP, which are\r\nyounger and have less frequently diabetic nephropathy as the cause of chronic renal failure\r\nthan in most published studies.\r\nPatients and Methods. A prospective cohort study of 126 HDP was recorded for\r\ndemographic, clinical and laboratory data, and after 24 months, the general mortality. Patients\r\nwere divided in two groups, survivors and non-survivors, and each of groups classified according\r\nto the time on hemodialysis (THD). The groups of non-survivors and survivors with THD more\r\nthan 10 year-period were compared to the groups with less than 10 year vintage, regarding the\r\nalbumin levels, iPTH levels, phosphate-calcium metabolism markers, age and sex.\r\nResults. We observed the better survival only for calcium phosphate product less than 55\r\nmg?/dL? (p=0,02). The iPTH level seems to be conditioned by albumin levels. For THD<10\r\nyears, iPTH levels are greater in survivors (p=0.01); in this subgroup we observed higher levels\r\nof serum albumin (p<0.001), the patients were younger (p<0.001), and had 5-fold lower\r\nfrequency of diabetes. For THD>10 years, iPTH levels are greater in non-survivor patients\r\n(p=0.02), as well as calcium, phosphorus and calcium phosphorus product.\r\nConclusions. Calcium-Phosphorus product is a better indicator for survival in HDP in our\r\narea than immunoreactive PTH levels. Immunoreactive PTH as prognostic factor might be\r\nbetter evaluated in association with calcium phosphorus metabolism parameters and albumin\r\nlevels too, even in younger and lower percent-diabetic HDP groups.