ACTA ENDOCRINOLOGICA (BUC)

Anorchia is a syndrome characterized by unilateral or bilateral absence of testicular tissue.\r\nAt puberty, growth and development are normal but secondary sexual development fails to\r\noccur if anorchia is bilateral.\r\nWe present the case of a 21 year-old male with a late diagnosis of bilateral anorchia. The\r\ndiagnosis was suggested by a bilateral empty scrotum, in a patient with male phenotype and\r\npoor secondary sexual development and established by karyotype analysis, hormonal profile\r\nand surgical exploration. The lack of testosterone response to hCG stimulation is the hormonal\r\nhallmark of bilateral congenital anorchia. In the absence of any information about germinal cell\r\npresence, bilateral excision of the testicular nubbins, implantation of testicular prostheses and\r\nhormonal replacement therapy were indicated.

Diabetes Mellitus is a huge syndrome which can be detected from the first day of life until the last year of life of a centenarian. In the current classification of diabetes among the so-called “idiopathic phenotypes”, apart Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D) has been included provisionally term “Latent Autoimmune Diabetes in Adults” (LADA). This has unclear characterization regarding the age at onset, the presence of anti-β-cell antibodies and the level of insulin secretory function, in conformity with C-peptide levels. According to several recent publications, there are no specific biochemical or genetic markers for Latent Autoimmune Diabetes in Adults (LADA), but only a gradual transition from T1D to T2D. In addition, the word “latent” in the construction of “LADA” term is inaccurate because in this phenotype nothing is latent: both the autoimmunity and diabetes are present and are even parts of the diagnosis. So that, the best term should be what in reality this subphenotype is: an Intermediary Diabetes Mellitus (IDM). Some recent genetic data strongly support this designation.

Objective. TSH-secreting pituitary adenomas (TSH-omas) are very rare disorders. This report describes the diagnosis and treatment of a thyroid-stimulating hormonesecreting ectopic pituitary adenoma in the nasopharyngeal region. Subjects and Methods. We report a 37-year-old male patient with thyroid-stimulating hormone-secreting ectopic pituitary adenoma in nasopharyngeal region. Results. A patient suffering from sweating, palpitations, dizziness and abnormality in thyroid tests was referred to our clinic. Thyroid function tests showed high basal levels of free thyroxine (FT4), free tri-iodothyronine (FT3), and serum TSH. TRH stimulation test results indicated blunted response. Scintigraphy showed increased radionuclide uptake (iodine-123), and a thyroid ultrasound scan revealed diffuse enlargement of the thyroid gland. A pituitary MRI indicated a normal pituitary. However, MRI showed a mass in the nasopharynx that was confirmed with endoscopy. Endoscopic total endonasal resection was done and the mass was removed. The pathology reported a TSHsecreting pituitary adenoma. Conclusion. In this report, an identified case of thyroid-stimulating hormone-secreting ectopic pituitary adenoma in nasopharyngeal region is reported and it is the only tenth case in the literature indicated in the nasopharyngeal region. Ectopic TSH-omas should be considered during inappropriate secretion of TSH as a candidate cause to enable correct diagnosis and improve the treatment of patients.

Prader-Willi syndrome (PWS) is commonly caused by the absence of the paternal contribution for imprinted genes in chromosomes 15q11.\r\nWe present a case of a 16 years-old girl with hypotonia, feeding difficulties, failure to thrive and strabismus during infancy followed by hyperphagia, early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of individuals with PWS. Routine Giemsa banded chromosomes were obtained from peripheral blood lymphocytes. Karyotype analysis showed a mosaic triple X (46,XX/47,XXX). Using\r\nmethylation studies of the PWS critical region (SNRPN locus) and by polymorphic microsatellite analysis, the existence of microdeletion of the critical area on paternal\r\nchromosome 15 was shown in white blood cells. Mosaicism for triple-X was observed in other three reported patients with PWS but in all of these reported cases an uniparental maternal heterodisomy for chromosome 15 was described. The X chromosome mosaicism in our case is presumed to have arisen postzygotically. The findings in our patient provide evidence that these two chromosomal anomalies are not related and had occurred together coincidentally. Genetic counseling for this family should consider these two conditions separately and provide separate recurrence\r\nrisks for each.

Introduction. Spontaneous intracranial hypotension (SIH) is defined by reduced CSF pressure without an identifiable cause, hallmarked by acute onset of severe postural headache. Overlapping clinical presentation, MRI appearance, laboratory findings and prevalent risk population, may lead to diagnostic challenges in distinguishing SIH from the more common pituitary adenoma apoplexy (PAA). Cardinal MRI characteristics of SIH may be overlooked if sellar region examination is not coupled with a comprehensive cranial MRI examination. Pituitary enlargement in SIH was described with increased prevalence, but mostly as an incidental observation in neuroradiological series, without detailed functional pituitary assessment or follow-up. Case report. A young female with SIH presented with an intra-suprasellar mass lesion, imitating PAA. Mildly affected pituitary function, absence of visual impairments, and favorable clinical course influenced the decision against urgent pituitary surgery. Subsequent MRI confirmed spontaneous regression in pituitary size in first 5 months, along with clinical, hormonal and perimetric stability. Her initial mild central hypocortisolism resolved spontaneously, while baseline and follow-up dynamic pituitary assessment revealed no other abnormalities. Subsequent 9 years of endocrinological and neuroradiological follow-up confirmed gradual spontaneous pituitary lesion reduction. Awareness is raised that SIH may constitute a diagnostic pitfall due to clinical, neuroradiologic and laboratory overlapping with PA apoplexy, potentially leading to unnecessary surgery.

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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