ACTA ENDOCRINOLOGICA (BUC)

Introduction. Hypoparathyroidism is a rare endocrine disorder, leading to complications affecting the kidneys, the eyes, the cerebrum (Fahr’s syndrome, epilepsy, parkinsonism, cognitive impairment), and the heart. Case report. We present the case of a 24-year old male that presented to our clinic for generalized tonicclonic seizures increasing in frequency for the last year or so. Furthermore, he was diagnosed with subcapsular cataract of both eyes and had intraocular lens implant surgery 12 years ago. CT scan performed at admission showed calcium deposits on the dentate nuclei, basal ganglia, thalamus, cerebellum and bilateral subcortical fronto-parietal white matter compatible with Fahr’s disease. The results of the laboratory tests were normal except for hypocalcemia, hyperphosphoremia and low intact parathormone (iPTH). The patient was diagnosed with primary hypoparathyroidism which led to Fahr’s syndrome. The patient was prescribed oral medication including calcium carbonate, calcidiol, magnesium orotate and levetiracetam. The follow-up after three months revealed a seizure free status and normalization of magnesium, calcium, and phosphorus levels. Conclusion. Fahr’s syndrome can be a cause of epileptic seizures and should be considered in the clinical approach to an epileptic patient, especially in children, teenagers, and young adults.

Context. The objectives of treatment of thyroid carcinoma include hormonal suppression, radioiodine ablation and follow-up with serum thyroglobulin (Tg). Tg levels should not be measured before six weeks postthyroidectomy. Objective. To describe the behaviour of early postoperative Tg in patients who underwent total thyroidectomy and its ability to predict the serum Tg levels after suppression. Design. This is a retrospective cohort study. Subjects and methods. Adult patients who underwent total thyroidectomy with at least two postoperative measurements of serum Tg, negative TgAb and concomitant serum TSH values were included. Tg, TgAb and TSH level measurements were completed two weeks postoperatively and during the follow-up period. Results. Twenty-nine patients fulfilled all criteria. The median serum Tg level at two weeks after surgery was 3.8 ug/L (0.3 -300) with a serum TSH level of 69.9 mU/L; 11-227. At the two-week measurement, 16 (55%) patients had serum Tg levels lower than 5 ug/L and 4 patients had levels between 5-10 μg/L. Conclusions. Postoperative early serum Tg could be an alternative to values measured six months after surgery and could be used as a predictive tool to make earlier therapeutic decisions.

Background. Pheochromocytoma, the great masquerader, can have a varied spectrum of clinical manifestations. It can often cause a diagnostic challenge despite the availability of modern investigation modalities. Case. We present the case of a 38-year-old male who presented with uncontrolled hypertension for the past 10 years and heart failure for one year. The diagnosis of pheochromocytoma was missed in the initial setting, leading to a biopsy of the retroperitoneal mass. Fortunately, the patient survived the procedure. Subsequently, with the involvement of a multi-disciplinary team, he was optimized for surgery under strict cardiac monitoring. After the complete excision of the tumour, he showed significant improvement not only in his clinical symptoms but also in his cardiac status. Conclusions. This case emphasizes the age-old medical phrase of ‘Primum non nocere or first, do no harm’. Any invasive procedure in a pheochromocytoma can lead to a massive release of catecholamines causing a hypertensive crisis, pulmonary oedema, and even cardiac arrest. Any young patient presenting with hypertension or heart failure should be investigated for secondary causes. Cardiomyopathy due to pheochromocytoma is because of catecholamine overload and usually reverses or improves after curative surgery.

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.

Objective. To describe the correlations between serum 25(OH) vitamin D and anthropometric and metabolic parameters in adult outpatients of both sexes with different BMI coming from an urban community. Subjects and Methods. 264 subjects referred for obesity assessment participated – 109 men and 155 women (20-60 years). Body weight and height, waist circumference (WC), blood pressure were recorded. Body composition was assessed by bioelectrical impedance (BIA) on a Tanita BC 420 MA analyzer (Tanita Inc., Japan). Serum 25(OH)D Total, Insulin, High-sensitivity C-reactive protein, blood glucose, total, HDL-cholesterol and triglycerides were measured. The insulin resistance index was calculated (HOMA-IR). Participants with BMI>25.0 kg/m2 underwent standard 75 g OGTT. Statistical analysis was performed on an IBM SPSS Statistics 19.0 for Windows platform (Chicago, IL). Results. Normal weight was found in 27.2 % of the participants, 24.6 % had overweight, 29.2 % -class I obesity, and 18.9 % – class II or III. Vitamin D was weakly and inversely correlated to different variables in the whole group – such as weight, WC, WC/Height, % body fat and HOMA-IR index (r=-0.231, -0.283, -0.307, -0.339, -0.328 respectively, all p<0.001). Building subgroups based on BMI led to loss of significance. Backward analysis revealed Total-C/LDL-C ratio, and LDL-C/HDL-C ratio as strongest predictors of serum vitamin D (p=0.001; R2=0.204). Conclusion. The association of vitamin D with blood pressure, plasma lipids, glucose and insulin is very weak on an individual level. However, several obesity indices (WC, WC/height ratio, % Body fat from BIA) might be used as a screening tool for subjects at risk for vitamin D deficiency.

Lingual thyroid is a rare developmental disorder, and it is the result of failure of the thyroid gland to descend from the tongue root to its normal site. The ectopic thyroid with a functioning gland is even rarer. In this case, we present a 44-year-old female patient with a complaint of foreign body sensation, progressive dysphagia and dyspnea due to ectopic thyroid tissue. Her complaints were totally resolved after L-thyroxine treatment. Here we report a patient with functioning ectopic thyroid tissue who had had bilateral subtotal thyroidectomy 10 years ago due to multinodular goiter. In conclusion, if progressive\r\ndysphagia, dyspnea, and foreign body sensation occurs in a patient who had thyroidectomy and living in an endemic goiter region, lingual thyroid may be underlying disorder.

Context. Recent studies have demonstrated a strong association between cardiorespiratory fitness (CRF) and mortality, but bias due to differences in the distribution of baseline variables has not been adequately considered. We studied a cohort of veterans with and without Type-2 diabetes using a propensity score matching method. Methods. Males with (n=592) and without (n= 6,167) Type-2 diabetes were studied. Propensity scores were used to balance covariate distributions between groups with and without Type-2 diabetes. All-cause mortality was the end point. Results. Predictors of mortality included hypertension, smoking, Type-2 diabetes, BMI and CRF. For each 1 MET increase in CRF in the unmatched group, the adjusted HR was 0.83 in those with diabetes (95% CI 0.77- 0.89; p<0.0001) compared to 0.87 in those without diabetes (95% CI 0.86-0.89; p<0.0001). Similar trends were observed for the matched dataset: the adjusted HRs were 0.83 (95% CI 0.77-0.90; p<0.0001) and 0.88 (95% CI 0.82-0.94; p<0.0001) for those with and without diabetes, respectively. Conclusions. CRF is a strong predictor of mortality in veterans with and without Type-2 diabetes. Although the trend in the association between CRF and all-cause-mortality was similar for matched and unmatched data, the mortality risks were relatively inflated when using unmatched data.

Familial hypercholesterolemia (FH) is a genetic disease with autosomal dominant transmission, characterised by high blood cholesterol levels. The evolution of this disease leads to primary atherosclerosis and cardiovascular disease. Patients with HF develop atherosclerosis by the age of 20 and usually do not survive past the age of 30. We present the case and oro-dental aspects of a preschooler that was diagnosed at the age of 4 with FH, compound heterozygote (mutation/genotype1 LDLR: C20IX, exon 4; mutation/ genotype2 LDLR: G571E, exon 12) and the experience of our clinic in the management of this patient that received offlabel treatment with statins. When diagnosed, his cholesterol level was 932 mg/dL and his LDL-cholesterol level was 792 mg/dL. Treatment with rosuvastatin and ezetimibe was prescribed. Both substances (rosuvastatin and ezetimibe) are not approved for children under the age of 6 in Europe. Taking into considerations the diagnosis and prognosis for unfavorable evolution, treatment with statins was started at the age of 5 years.

Context. Immunoassays are vulnerable to occasional analytical errors despite their sensitivity and specificity. Adrenocorticotropic hormone (ACTH) is among hormones which are vulnerable to assay interference. Objective. In this case report, we aimed to present a case of ACTH interference in a patient with subclinical hypercortisolism. Case report. We present a case of subclinical hypercortisolism with unexpectedly elevated levels of ACTH in whom interference was shown by different biochemical methods. It is important for the clinician to keep in mind the possibility of interference when clinical and laboratory results are discordant. The communication between the clinician and laboratory staff is important while interpreting results. This case report shows that ACTH interference should be considered in patients with subclinical hypercortisolism who have unexpectedly high levels of adrenocorticotropic hormone.

Context. Propylthiouracil (PTU) could cause lupus or vasculitis-like hypersensitivities thus interfering with some other concomitant diseases. Objective. Clinicians must be aware of the side effects of medications, particularly after their introduction and long-term use. Some clinical manifestations may be similar to well-known drug side effects or hypersensitivity. Every unusual clinical scenario related to drug use must be evaluated individually and thoroughly. Subjects and Methods. Hands and feet skin changes were observed several days after PTU administration in a male patient with severe diffuse toxic goitre. A complete blood count, biochemistry analyses, thyroid function tests and antibodies, and immunology analyses were performed. Results. As the skin changes were distributed regionally, liver function tests were normal, and there were no signs of clinical deterioration, it was decided to continue PTU treatment and monitor the patient. The initial maculopapular rash quickly turned vesicular, then scaly. After two weeks, the skin changes were wholly restored, with no scarring. Hand, Foot, and Mouth disease (HFMD) was diagnosed after a thorough epidemiological survey and clinical workout. Conclusions. Our case study demonstrates that skin changes associated with HFMD may resemble those associated with PTU-induced vasculitis.