ACTA ENDOCRINOLOGICA (BUC)

Introduction. Agranulocytosis induced by thioamides is rare, occurring only in 0.2-0.5% of cases. Case presentation. We present the case of a 45-year-old woman previously diagnosed with Graves’ disease that discontinued the use of methimazole on her own. She attended the Emergency Department presenting fever (40.5¯C), agitation and diaphoresis. A thyroid storm diagnosis was initially thought, but after laboratory results showing neutrophil count near 0.06x109/L, sepsis due to neutropenia seemed the most logical hypothesis. Cephepime was promptly initiated. For thyrotoxicosis management, cholestyramine and atenolol were prescribed. In her second day of hospitalization, subcutaneous granulocyte colonystimulating factor was started for an earlier medullar response. The patient was discharged after 7 days with atenolol 50mg/ day and instructed to have a definite treatment for Graves disease as soon as possible. Conclusion. Such case purpose is to remember clinicians that sepsis diagnosis can be challenged, especially when a thyroid storm is a possible diagnosis as well. In this particular case, both conditions should be treated, but life-threatening sepsis should have the focus for a quick therapeutic approach.

Previous studies have demonstrated that female patients with coronavirus disease 2019 (COVID-19) demonstrate more favorable prognosis relative to male patients. In this article, we elaborate the possible role of estrogen in the modulation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection severity. The potential interplay between several factors, including inherently lower estradiol (E2 ) and slightly higher estrogen receptor β (ERβ) levels in males, with inflammatory mediators are described. Altogether, there seems to be a sexually dimorphic response towards SARS-CoV-2 infection, and a possibility that COVID-19 severity is dependent on both E2 levels and ERα:ERβ expression ratio in lymphoid and lung cells.

Objective. This study aims to investigate the effect of job characteristics and protective factors on burnout, one of the common medical staff issues. So far, little attention has been paid to testing protective factors' role on medical staff exhaustion. Design. Using a correlation design, these constructs were tested on a sample of 221 participants, doctors, and nurses. Main Outcome. The present study revealed protective factors power in predicting burnout, over job characteristics, and the moderation effect of role-playing in the medical care unit and clinical department. Measures. For assessing burnout were used a Romanian translated version of the Maslach Burnout Inventory – General Survey (MBI). Results. Protective factors like physical activities, vacation, and hours spent with family introduced an explanatory model and had a predictive validity over job characteristics in predicting medical staff's burnout. Finally, the effect of physical activities on burnout was moderated both by the role played in the medical care unit and clinical department, while the effect of time served in other medical institutions was moderated only by the role played in the medical care unit. Conclusion. These results provide guidance for better burnout programs interventions, which are addressed to medical healthcare experts.

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Context. We propose that the underlying etiology of renal calcium leak is complex and involves defects in renal handling and parathyroid sensing of ambient calcium concentration in the tubular fluid and blood. Therefore, treatment of such a patient requires both decreasing the parathyroid mass and inhibiting calcium sensing receptors that are present in the parathyroid and kidney. However, a combined treatment strategy of three-gland parathyroidectomy and calcimimetic therapy has not been formally studied to date. Objective. To present a patient with renal calcium leak causing secondary hyperparathyroidism presenting as primary hyperparathyroidism. There are a two year followup period. Results. A patient with mild hypercalcemia, hypercalciuria, musculoskeletal pain, and recurrent kidney stones underwent a three gland parathyroidectomy and had persistent hypercalciuria post-operatively. She was subsequently treated with thiazide diuretic that caused dramatic decrease in hypercalciuria, but overt hypercalcemia. She was then treated with Cinacalcet with normalization of intact PTH, serum calcium and serum phosphate. Conclusion. Patients with hypercalciuria and mild hypercalcemia may have secondary hyperparathyroidism. Renal calcium leak drives hyperparathyroidism and is unresponsive to parathyroidectomy or thiazide diuretic alone. In our patient, three gland parathyroidectomy plus calcium –sensing mimetic agent, Cinacalcet, normalized serum calcium, PTH, and phosphorus. Defects in calcium sensing in the parathyroid gland and kidney might be responsible for this form of secondary hyperparathyroidism.

Individuals with male phenotypes and 46 XX karyotype appear in about 1 of 20,000 births\r\nwith clinical features varying from normal male appearance to sexual ambiguity and\r\nhermaphroditism. More than 80% of these patients present a spontaneous translocation of the\r\nSRY gene from the Y to the X chromosome in the paternal germinal cells.\r\nWe present a case of a 2 years old boy diagnosed with minor hypospadias, bifid scrotum,\r\nnormal penis and palpable gonads in the scrotum. The karyotype is 46 XX and FISH analysis\r\nreveals SRY translocation on one of the X chromosomes. Ultrasound exam does not reveal any\r\nmullerian structures and a hCG test proves the testes to be functional. A short course of\r\ntreatment with hCG is recommended in order to induce the proper development of the scotal\r\nsac. The patient will need monitoring, in order to identify the development of hypergonadic\r\nhypogonadism, which characterizes such patients in later life. This case underlines the\r\nimportance of comprehensively investigating any patient with even minor genitalia anomalies.

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Background. Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition. Case study. This case is a 5-year and 11-monthold female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated. Conclusion. The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.

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