ACTA ENDOCRINOLOGICA (BUC)

A 20-year-old woman was studied because of lack of spontaneous pubertal development and primary amenorrhea. At the moment of examination in the Medical Genetics Department she had normal height, sparse axillary and pubic hair, but breasts were well developed (she already had some estrogen therapy). She had normal but infantile external genitalia, normal vagina and small uterus. Laparoscopic investigation suggested the presence of gonadoblastoma in the dysgenetic gonads and histopathologic examination confirmed the diagnosis. The karyotype revealed a 46, XY chromosome constitution in lymphocytes, without structural defects of X or Y chromosomes. Because of the risk of malignancy, gonadectomy was performed.

Context. Laparoscopic sleeve gastrectomy (SG) has gained popularity as a metabolic procedure, but its longterm effectiveness for Romanian patients remains unclear. Objectives. To assess the long-term efficacy of SG for Romanian patients and to evaluate the differences between 5 years and 1 year follow-up. Design. A longitudinal, prospective analysis of collected data from 68 patients undergoing SG between 2009 and 2014 was performed. Long-term outcomes at 5 years were analyzed in terms of total weight loss (%TWL), excess weight loss (%EWL), body composition and glucose homeostasis. Subjects and Methods. All patients meeting the standard criteria for SG before inclusion were prospectively enrolled in the study. Of the 68 patients, eight were lost to follow-up, therefore, 60 patients (41.7±12.5 years, baseline body mass index [BMI] 44.6±9.9Kg/m2) were analyzed. Results. The BMI decreased at 12 months with 30.7% from the preoperative BMI (p<0.001) and subsequently stabilized at 5 years. TWL and EWL were 30.6% and 83.1%, respectively at 1 year, with a slightly increase at 5 years. Therapeutic success rate (%EWL≥50) and diabetes remission rate (Buchwald criteria) were 93.3% and respectively 63.6% at 5 years. Insulin sensitivity index and metabolic clearance rate of glucose increased with 92.5% and 60.1% respectively, in the third month from baseline (p<0.001), while estimated second phase of insulin secretion decreased with 7.9% in the first month postoperatively (p=0.04), remaining stable afterwards. Conclusions. SG was effective in terms of %EWL, body composition and glucose homeostasis improvement for Romanian patients, the outcomes stabilizing after 1 year follow-up.

Introduction. The Antley-Bixler syndrome (ABS) is an extremely rare syndrome characterized by congenital\r\ncraniosynostosis and radiohumeral synostosis. Many patients demonstrate defects in steroidogenesis and disturbances\r\nof sexual development.\r\nAim: To present the first documented case of a Romanian patient with ABS.\r\nMaterial and Methods. Alexandru, a 3 year old child, was referred to our department for elucidating a complex\r\nmalformative syndrome that consisted of ambiguous genitalia and skeletal anomalies. We performed a complete assessment that ranged from obtaining a detailed medical history to gene sequencing. The hospital?s Ethical Committy gave\r\nthe authors its approval for using the medical data concerning the case, after the parents signed an informed consent.\r\nResults. Medical history. We note 4 previous admissions to our hospital during which efforts were made to diagnose the\r\nchild?s disorder of sexual development. At 3 months Edwards syndrome was suspected, which was later infirmed. During the third and fourth admission (8 months, 10 months respectively) the suspicion of congenital adrenal hyperplasia (CAH) was raised and then confirmed (impaired steroidogenesis, 46 XX karyotype). The patient was lost to\r\nfollow-up since then, probably due to the parents? inability to cope with the implications of their child?s condition.

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Context. Chronic idiopathic urticaria (CIU) is often associated with autoimmune thyroiditis (AT). Objective. The aim of this study was to analyze the clinical particularities of patients with CIU associated with AT and to evaluate the efficacy of dapsone in such patients. Design. We performed an observational study of patients hospitalized in our clinic between January 2010 - December 2013 for moderate/severe chronic urticaria (CU). Subjects and Methods. Data regarding medical history, clinical, paraclinical findings, coexistence of AT and response to treatment were compared between patients with CU and AT and those without AT. Patients continued oral H1 antihistamines. Severe flares required systemic corticotherapy. 11 patients with refractory CIU associated with AT received dapsone treatment. Levothyroxine was administered in patients with hypothyroidism. Results. Among the 210 patients admitted for CU, 39 (92% female) were diagnosed with CIU associated with AT. Patients with CIU associated with AT had a slightly longer disease duration, a higher prevalence of angioedema (25.6% vs. 16.7%) and a more frequent need of systemic corticotherapy for urticaria exacerbations (46.2% vs. 30.4%). All 39 patients achieved significant clinical improvement after a mean period of 4 weeks based on urticaria activity score (UAS) 7 (p<0.0001). Conclusions. Assays for thyroid autoantibodies and thyroid function should be part of the workup in patients with CU, enabling the diagnosis of autoimmune urticaria. Without correction of the underlying autoimmune mechanisms, CU may persist regardless of conventional treatment. Dapsone represents a therapeutic option in autoimmune CU.