ACTA ENDOCRINOLOGICA (BUC)

Retroperitoneal fibrosis (RPF), a disease with a severe outcome due to the complications it causes, can be associated with the processes of atherosclerosis with a massive and extensive fibrosis. In this paper we present a patient with retroperitoneal fibrosis in which we noticed estrogen receptors at the level of the periaortic fibrous tissue\r\nand we obtained a regression of this process under treatment with tamoxifen.

Prolactinoma causing obstructive hydrocephalus is quite rare. We present a case of a 28-year-old previously healthy man who presented with sudden onset of dysarthria and expressive aphasia along with intense bifrontal headache and shortterm memory loss. Initial brain CT and brain MRI revealed a large 5.2 x 4.7 x 2.6 cm suprasellar mass, which extended to the third ventricle reaching up to the foramen of Monro and laterally displacing both internal carotid arteries. He was emergently placed an external ventricular drainage to relieve intracranial hypertension which led to immediate reversal of mental status as well as speech ability. His extensive endocrine work-up demonstrated a prolactin level with dilution of 12,650 µg/L (normal=2-18 µg/L) (549,996.7 pmol/L) consistent with the diagnosis of giant macroprolactinoma. Bromocriptine was initiated with successful tumor shrinkage and normalization of prolactin level within 7 months after initial presentation. Our case demonstrates the importance of obtaining a thorough hormonal evaluation of a large sellar lesion causing obstructive hydrocephalus to allow for an accurate diagnosis. It also demonstrates the effectiveness of medical therapy in the treatment of macroprolactinomas, even if very large. Medical treatment with dopamine agonists is still a first-line, effective approach with a favorable outcome in patients with giant macroprolactinomas causing intracranial hypertension and neurological symptoms as was the case in our patient.

Insulinoma is the most common endocrine tumor of the pancreas. The diagnosis suspicion is usually based on clinical symptoms and is confirmed by biochemical tests. Because the majority of insulinomas have a small size, the real problem is the localization of these tumors before surgery. We present the diagnostic and therapy difficulties, the value of available imaging techniques as well as our experience in five consecutive insulinoma patients from our clinic.

Chest pain in children is a common referral for emergency examination, although it is believed that the underlying condition is not a serious event. The authors present the case of a 17 years old male with complaints of chest pain with a very recent onset, constant, experienced after physical effort. All medical history and physical examination findings were normal, the poster-anterior chest X-ray revealed a heterogenous opacity in the middle third of the right hemithorax confirmed on computerized tomography as a large solid anterior mediastinal mass with a diameter of 7.5/10.3 cm. By thorax surgery the mass was identified in the anterior and superior mediastinum and total resection was achieved for the tumor mass and thymus. Pathology examination showed poor small and medium epithelial cells proliferation and the tumor was classified as thymoma type 1B. Mediastinum is a rare location of space occupying processes in children. Also, there is a high rate of asymptomatic lesions in this area, considering that half of them are incidentally discovered for various chest X ray examinations. Many causes of chest pain in children are benign; nonetheless, some serious events do exist sometimes and pediatricians must pay attention to identify and manage those cases.

Pituitary stalk interruption syndrome (PSIS) consisting of the triad: ectopic posterior pituitary (EPP), thin or absent pituitary stalk and anterior pituitary hypoplasia is a rare pituitary malformation with variable degrees of pituitary insufficiency, from isolated growth hormone deficiency to TSH, gonadotropin and ACTH deficiency which may occur in time, with normo, hyper or hypoprolactinemia and central diabetes insipidus in up to 10% of cases. Also, extrapituitary malformations have been described in some cases. Genetic defects were identified only in 5% of cases. MRI findings are considered predictive for the endocrine phenotype. We aim to describe two cases with PSIS without central diabetes insipidus, anosmia and extrapituitary malformations, except for minor head dysmorphic features. The first case was referred at the age of 4 years for short stature (-4SDS for height, bone age 2 years), diagnosed with severe GH deficiency and developed central hypothyroidism and hypoprolactinemia during five-years follow-up. The second case, a 26 year old male with birth asphyxia, cryptorchidism, poor growth in childhood and adolescence (-3 to -4 height SDS), absent puberty and normal adult height (-1.18 SDS; bone age 15.5 years and active growth plates) had GH, TSH, ACTH deficiency and low normal PRL levels. Increasing medical awareness on PSIS clinical and endocrine heterogeneity may help a more early and accurate diagnosis. Corroboration of neuroimaging and endocrine data will improve our knowledge and understanding and will create premises for molecular diagnosis, genetic counseling and a better patients’ management.

Context. Neutrophil lymphocyte ratio (NLR) and platelet lymphocyte ratio (PLR) are recent prognostic markers associated with inflammation in many diseases such as chronic kidney disease (CKD), malignancies, myocardial infarction. Objective. In this study, we investigated the relationship between NLR-PLR and parathyroid hormone (PTH) and vitamin D in patients with high PTH levels. Design. The patients with high PTH levels in Nephrology and Endocrinolgy Outpatient clinics were evaluated retrospectively. Subjects and methods. The medical records of the patients were examined and clinical data, including demographic details, clinical and laboratory findings, treatment and follow-up data were obtained. NLR and PLR were calculated. Serum creatinine, calcium, phosphorus, magnesium, lipid levels, calcium phosphorus product, PTH and vitamin D values were investigated. The relationship between NLR-PLR and laboratory parameters, GFR (MDRD-GFR), PTH and vitamin D were investigated. Results. 48 male and 253 female patients were enrolled in this study. The mean age was 57.57±13.28. NLR correlated negatively with albumin, hemoglobin, vitamin D, calcium and cholesterol and it positively correlated with creatinine and PTH. Multiple regression analysis showed that main determinants of NLR were PTH, albumin, LDLcholesterol, hemoglobin and gender. Conclusions. In this study NLR and PLR correlated negatively with hemoglobin and cholesterol. Positive correlation between NLR and creatinine could be explained by increased degrees of inflammation associated with more pronounced degrees of renal dysfunction. The impact of PTH on NLR was independent of GFR. In multiple regression model this suggests that PTH could be a pro-inflammatory parameter independent of the degree of renal dysfunction.

Background. Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). Empty sella (ES) is an anatomical condition of sella turcica that is partially or completely filled with cerebrospinal fluid mainly due to intrasellar herniation of subarachnoid space. Here, we describe a patient who presented with clinical and biochemical features of acromegaly and who had an ES on pituitary magnetic resonance imaging (MRI). Case report. A 73-year-old male patient was consulted in our clinic because of the acromegalic phenotype while planning for colorectal adenocarcinoma surgery. The patient noticed gradual enlarging of his hands, feet and nose for 30 years, but never consulted to any clinician for this reason. Serum GH was 20.6 ng/mL (normal <3 ng/mL) and IGF-1 was 531 ng/mL (normal, 69–200 ng/ml). An oral glucose tolerance test showed no suppression of GH values. T1-weighted MRI revealed an ES. 18F-FDG PET/CT and Ga-DOTATADE PET/CT did not show any finding consistent with ectopic GH secretion. Growth hormone releasing hormone (GHRH) was within the normal range (<100mg/dL). He was treated with long-acting octreotide 20 mg per 28 days. At the 6th month of treatment, serum GH and IGF-1 levels were decreased to 5.45 ng/mL and 274 ng/mL, respectively. Conclusion. The mechanism underlying the association of acromegaly and ES remains unclear. Apoplexy on existing pituitary adenoma and then formation of necrosis can proceed to ES. Since our patient did not have a history of pituitary apoplexy and we could not find any reason for secondary ES, we considered primary ES.

Background: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are found in familial isolated pituitary adenoma syndrome (FIPA) families and in a small number of sporadic pituitary adenoma (PA) patients. Although the tumorigenic mechanisms of AIP mutations are unclear, truncating mutations are considered pathogenic, but missense mutations are difficult to evaluate. p.R16H (c.47G>A) is a controversial AIP variant of unknown significance. Aim: To describe a new PA case associated with AIP p.R16H. Patients and methods: One AIP p.R16H non-functioning pituitary adenoma (NFPA) case identified by mutation sequencing screening of sporadic PA patients; 108 controls were screened for p.R16H. Results: The 38 yrs. old male NFPA patient had no family history of PA and harboured a heterozygous p.R16H variant. The proband and two brothers presented severe intellectual disability. Severe visual impairment was the initial symptom and clinical, biochemical and imaging examination demonstrated a large NFPA invading the right cavernous sinus. After transsphenoidal debulking, the remaining tumor continued growth. One of proband’s sisters was negative for p.R16H. Among controls, we identified one heterozygous p.R16H carrier, presenting a thyroid follicular neoplasm. Loss of heterozygosity analysis of the pituitary and thyroid tumors was not performed. Conclusions: We report two new occurrences of AIP p.R16H, associated with a NFPA and with a thyroid tumor. The NFPA patient was young and presented an invasive macroadenoma, features typical of AIP-mutated patients. Because the association between p.R16H and PAs has not been conclusively established, further research of p.R16H is warranted, in view of its implications for AIP genetic testing.

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Severe hypokalemia is a life threatening event, which triggers a number of therapeutic and diagnostic attitudes. In this paper we present a case of 63 years old man, who presented with progressive lassitude, edema, weight loss. The mild hypertension and hyperglycaemia were treated with spironolactone and diet. Initial evaluation showed severe hypokalemia (1.7 mmol/l), hepatomegalia, hyperplasic/nodular adrenal masses; in addition, he has developed a right middle lobe pneumonia which improved with antibiotics. Referred for the suspicion of hyperaldosteronism, aldosterone values were normal (9.3-9.5 ?g/dl), but ACTH was high (725 pg/ml) and did not suppress (710.8 pg/ml) to high dose DXM, as well as cortisol: basal values 27.78 ug/dl, high dose DXM 35.06 ug/dl, showing an ACTH dependent Cushing syndrome despite lack of suggestive clinical signs. Tumor markers suggested a neuroendocrine neoplasia: carcinoembryonic antigen=101 ng/ml (normal values=0.52-6.3 ng/ml), CA 19-9= 155 ng/ml (N < 33 ng/ml). Further radiological evaluation showed a 3 cm right lobe lung tumour. Despite high potassium supplements and spironolactone, the hypokalemia remained around 3.2 mmol/l, characteristic for an apparent mineralocorticoid excess. Because of aggressive evolution of the lung tumour, he died three months after the initial admission into the hospital. Pathology report showed a lung carcinoma. ACTH immunostaining of the lung tumour was positive and revealed a paraneoplastic secretion.