ACTA ENDOCRINOLOGICA (BUC)

Anaplastic thyroid carcinoma (ATC) is the most aggressive type of thyroid\r\ndedifferentiation. Rarely, ATC associates rhabdoid characteristics and only few cases have been\r\npresented to date. We present a case of a thyroid papillary carcinoma which shifted to an\r\naggressive anaplastic form with rhabdoid dedifferentiation and concomitant leukemic reaction\r\nwith eosinophilia. A 76 years old man with a long standing history of a thyroid nodule, noticed\r\nwithin months a rapid growth of the nodule associating marked compression phenomena with\r\nleft deviation of the trachea and esophagus and mild dysphonia. Palliative surgery was\r\nperformed, but the evolution was unfortunate with further health deterioration (fatigue, dyspnea,\r\ndysphagia, loss of appetite and weight loss). Laboratory tests proved leukocytosis with\r\nneutrophilia and left deviation of leukocytes formula, with major eosinophilia. The pathology\r\nshowed a thyroid papillary carcinoma with anaplastic changes. By immunohistochemistry,\r\nit was confirmed the thyroid origin of the tumor (thyreoglobulin positive areas) but also the\r\nepithelial nature of the undifferentiated areas (positive areas for cytokeratin and epithelial\r\nmembrane antigen). Moreover, in the anaplastic areas, rhabdoid differentiation was\r\nidentified by positive coloration against vimentin, protein S100 and desmin. The tumor was\r\naggressive by its anaplastic transformation, confirmed by a high proliferation index (Ki67:\r\n40% positive). The computed tomography was concordant with the phenotype predicted by\r\nhistological description showing a malignant thyroid tumor, invading cervical and mediastinal\r\nareas with secondary lung disseminations. Unfortunately, the outcome was fatal even though\r\nadditional treatment methods have been tried: radiotherapy and chemotherapy. The\r\nparticularities of this case reside in the very rare dedifferentiation of a papillary thyroid\r\ncarcinoma towards an anaplastic thyroid carcinoma harboring the rhabdoid phenotype and\r\nalso its association with eosinophilia.

Abstract Context. Autoimmune progesterone dermatitis (AIPD) is a rare, cyclical dermatosis, with variable clinical presentation, occurring exclusively or being aggravated during the luteal phase of the menstrual cycle, when levels of progesterone rise. Its pathogenesis is still unclear. AIPD is thought to occur as an autoimmune reaction to endogenous possibly modified progesterone, but it could also be triggered by exogenous progesterone exposure. AIPD is a diagnosis of exclusion. Usually there is no or limited response to oral H1 antihistamines and a partial response to steroids. Ovulation inhibitors represent the specific treatment. Case report. We report a case of AIPD in an 18-year-old nulliparous patient with no medical history of allergic diseases and no exposure to oral contraceptive pills. AIPD was suspected based on the clinical picture (recurrent cyclical eczematous eruption on the face and abdominal area) and confirmed by positive intradermal test and positive progesterone challenge. This diagnosis was supported by the result of the skin biopsy, which also helped to exclude other dermatoses with premenstrual aggravation. The rash responded satisfactorily to treatment with a combination of oral contraceptives, levonorgestrel and estrione, which is currently considered first line therapy. Conclusions. This case is of particular interest due to the lack of previous pregnancy or exposure to progesteron therapy. Recurrent, cyclical eruptions in fertile women should raise the suspicion of AIPD. If early recognized, the patient may benefit from non-invasive treatment that improves significantly the quality of life.

Introduction.Cardiomyopathy secondary to severe hypocalcaemia can lead to death when misdiagnosed. However, it can respond favorably to calcium and vitamin D as in this observation.\r\nCase report. SB, 50 years old, was hospitalized for heart failure. He was operated on for cataracts and treated for epilepsy, but was not known as having heart problems.\r\nClinical examination revealed global heart failure. Chest x ray showed cardiomegaly with bilateral pleural effusion. Echocardiography demonstrated myocardium dilatation with an\r\nimpaired systolic function (ejection fraction = 38%, N≥ 60). Heart screening did not find any cause, but laboratory investigation diagnosed severe hypocalcemia (mean value: 26mg/L (N=80-105) or 0.65 mmol/L), high phosphorus (61.5mg/L, N=25-45), and low parathormone (6.51 pg/mL, N=15-65 pg/mL). Corrected calcium according to protidemia\r\nwas 0.69 mmol/L. Magnesium was normal. Brain CT scan showed bilateral and symmetrical calcifications of basal ganglia\r\narguing for Fahr?s syndrome. After calcium (1g) and vitamin D (2, then 3 μg/day) during one week, cardiac abnormalities improved promptly. Three months later seizures disappeared totally after stopping anti epileptic drugs.\r\nConclusion.The fast reversibility of heart failure and seizures under calcium suggests observed symptoms were due to hypocalcaemia, seemingly installed on a previously normal heart function. So, calcium assessment should be checked systematically in heart insufficiency.

Context. Rapidly progressive precocious puberty (RPPP) is a rare condition in Turner syndrome (TS), with no consensus on treatment and follow-up. Only 12 cases have been reported so far. Objective. We aimed to evaluate the effects of the GnRH analog (GnRHa) on growth and anti-mullerian hormone (AMH) levels in TS and RPPP. Design. The clinical and laboratory data was recorded at baseline and after treatment. Subjects and methods. An 8.1-year old girl with a karyotype of 45, X/46, XX presented with breast development at Tanner stage-2. Breast development advanced to Tanner stage-3 at the age of 8.7 years. Growth velocity (GV) was 8 cm/year. Bone age was 11 years with a predicted adult height of 152 cm. Luteinizing hormone (LH) was 1.69mIU/mL and estradiol was 33pg/mL, confirming the central puberty. AMH level was 6.33ng/mL. The sizes of ovaries and uterus were compatible with the pubertal stage, with an endometrial thickness of 5 mm. GnRHa was started for RPPP. Results. After three months, GV declined to 0 cm/3 months and AMH level to 50% of the baseline. Growth hormone (GH) treatment was started for insufficient growth. GV improved with GH treatment, as well as a far more decreased AMH level. Conclusion. GV usually declines before puberty in patients with TS, even if the mid-parental height is tall. RPPP should be considered if GV is increased. Excessive suppression of growth may be prevented with GH treatment. GnRHa treatment also plays a role in reducing AMH levels in patients with TS.

Introduction. This case report is the fourth of its type in the medical literature. It describes total thyroidectomy for recurrent relapses of Graves encephalopathy (GE) despite medical treatment. Case presentation. A 33-year-old male presented with impaired consciousness and convulsions. He had postthyroid surgery recurrent Graves’ disease with a goitre. Based on this fact, high thyroid antibodies titres and the exclusion of other causes of such neurological manifestations, he was diagnosed to have GE. This is a rare variant of “encephalopathy associated with autoimmune thyroid disease” (EAATD). Despite the administration of steroid therapy and other standard therapeutic measures, he developed five relapses within 17 months. Total thyroidectomy was advised. Unfortunately, he got another severe attack that required intensive care admission. After three days of discharging, he had urgent total thyroidectomy. The operation went well and for 18 months’ follow-up he had no more attacks. However, thyroid antibodies remained high. Discussion. The report provides details on the diagnosis, standard management and the indication for thyroidectomy for GE. It describes its challenges, precautions, technique and outcomes. It reviews the extent of surgery as well as the clinical and antibody outcomes of the previous three related reports, in comparison with the current one. Conclusion. For medically uncontrolled relapse of GE, thyroidectomy consistently results in ending the attacks. It, therefore, should be put in more consideration in the treatment protocols. On the other hand, one should not depend on antibody levels as a measure of treatment success.

Introduction. Vitamin D (VD) deficiency is highly prevalent worldwide. Aim. To assess the prevalence of hypovitaminosis D in HIV-positive Romanian patients compared to controls. Methods. Serum 25OHD concentration was measured in HIV-infected patients and a control sample, matched by age, sex and menopausal status. The 25OHD status was defined as: deficiency < 20 ng/mL (severe deficiency <10 ng/mL), insufficiency 20-30 ng/mL, normal >30 ng/mL. Results. We evaluated 118 HIV-positive patients (72 males, 46 females), aged 36.9±12.2 years. 98.14% of them were on complex antiviral regimens. The B/C hepatitis coinfection rate was 9.3%. The control sample consisted of 119 subjects, (74 males, 45 women). The median and interquartile range for serum 25OHD concentration in patients was 17.6 (9.7, 26.9) ng/mL and 23.7 (18.4, 27.5) ng/mL in controls (p=0.001). Only 15.96% of HIV-positive cases and 12.71% of controls had normal VD status. The percentage of cases with severe VD deficiency was significantly higher in HIV positive cases (23.52%) compared to HIV-negative controls (4.2%, p=0.001). Conclusions. Hypovitaminosis D was identified in 84.04% of HIV-infected patients, but the serum 25OHD concentration was not associated with specific HIV-related factors in our sample. Clinical guidelines regarding VD status determination and supplementation in HIV patients are needed.

Severe hypercalcemia is often caused by primary hyperparathyroidism (PHP), which is not commonly seen in patients with systemic lupus erythematosus (SLE). In this case report a 77 years old woman with a history of SLE develops mild hypercalcemia secondary to unrecognized PHP that leads to a hypercalcemic crisis with a prolonged recovery. Therefore, early diagnostic evaluation of persistent hypercalcemia in patients with SLE is important for detection and appropriate treatment of PHP to avoid a hypercalcemic crisis and associated prolonged morbidity.

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Insulinoma in a patient with pre-existing diabetes mellitus is very rare.\r\nWe report a case of a malignant insulinoma in a 78-year-old patient with type 2 diabetes mellitus who, after 6 years of insulin treatment, experienced recurrent episodes of\r\nhypoglycaemia, with progressive reduction of dosage to cessation. Endogenous hyperinsulinism was confirmed: glucose 35 mg/dL (74- 106), insulin 23.7 &#956;U/mL (7- 17),\r\nand negative test for sulphonylureas in the plasma. Endoscopic ultrasonography, magnetic resonance and axial computer tomography identified a non-resectable pancreatic tumour, an infiltrating mesenteric vein, as well as metastatic lesions in the liver. After chemoembolization of metastases, initial reduction of hypoglycemic attacks occurred. A few months later, hypoglycaemia recurred, and combined treatment with somatostatin analogs and diazoxide was employed. Although hypoglycemic agents are the commonest\r\ncause of hypoglycemia in type 2 diabetes, insulinomas may occur in these patients. A high degree of suspicion for the presence of an insulinoma should be maintained when\r\nunexplained hypoglycemic episodes occur in a patient with previously stable diabetes despite dose adjustment or cessation of the drugs.

Context. Craniopharyngiomas (CPH) are benign tumors, rarely encountered in children, representing 5-6% of all intracranial tumors. Objective. This study aimed to analyze the surgical management and quality of life in a series of CPH pediatric cases. Design. This was a multicenter study performed over a 25-year period (1994 - 2019) in Bucharest. Subjects and Methods. 152 children (0-17 years old) were treated for CPH. Preoperative manifestations were intracranial hypertension, endocrine dysfunction, visual impairment, ataxia, intellectual performance decrease. Results. Considering all surgical approaches used, we advocate for pterional approach to best fit in CPH. We achieved gross-total removal (GTR) in 83 cases (54.4%), near-total resection (NTR) in 13 cases (9%), partial resection (PTR) in 51 cases (33.3%). 5 cases were biopsies (3.2%). Gamma Knife Surgery was performed in 10 cases (6.5%), all recurrences. At 6 months GOS revealed: Good Recovery 70 cases (46.2%), Moderate Disability 62 cases (40.7%), Severe Disability 13 (8.5%), Vegetative State 2 cases (1.3%), Deceased 5 cases (3.2%). Complications were: diabetes insipidus (89.3%); hypopituitarism (66.4%); hypothalamic damage (17.7%); visual deterioration (18.4%). Conclusions. Surgery remains the main option, but GTR complications prove the necessity for a multidisciplinary approach. Outcome predicting factors are: age, tumor size, hydrocephalus degree, hypothalamic dysfunction.