ACTA ENDOCRINOLOGICA (BUC)

Pituitary apoplexy (PA) is a life-threatening clinical syndrome. Dopamine receptor agonists are the drugs of choice in the treatment of prolactinomas. The use of cabergoline is reported to cause an increased risk of PA, particularly in macroprolactinomas of cystic nature. In this report, we present a patient with a cystic macroprolactinoma who developed PA on the 16th week of cabergoline treatment.

Introduction. Pituitary apoplexy is a rare, acute, and life threatening condition due to haemorrhage or necrosis within a pituitary adenoma. Its prognosis may be poor leading to a fatal issue, or be good inducing a decrease or cure of the pituitary adenoma as in the case presented.\r\nCase report. A man, aged 28 years, having a history of well proved acromegaly [Growth hormone =GH=205ng/mL (n<5),\r\nand pituitary adenoma measuring 19x16mm] with diabetes mellitus (Glycaemia 4g/L, glycosuria++++, with ketoacidosis) treated with insulin for one year, was referred for\r\nnumerous hypoglycaemias which obliged him to stop insulin and diet. Just before, he had an acute episode of headaches, nauseas and vomiting. Clinical exam showed typical\r\nacromegaly, but pituitary assessment demonstrated low GH=0.05ng/mL, normal IGF1, without pituitary deficits. Routine analyses were normal. Fasting glycaemias, and glycaemias after glucose loading were normal too. Cerebral MRI showed a significant decrease in pituitary tumour (10 x\r\n16mm). Ten years later, glycaemias, GH, IGF1, and other pituitary functions remained normal, the necrotic pituitary process decreased up to 4.5 mm in height.\r\nConclusion. This clinical history and outcome argued for a pituitary apoplexy secondary to apparently spontaneous\r\nnecrosis of a somatotrop adenoma that induced a total cure of acromegaly and diabetes mellitus.

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Objective. This study aims to determine the frequency and prognostic significance of lactic acidosis in children with diabetic ketoacidosis (DKA) admitted to the pediatric intensive care unit. Methods. The study was carried out retrospectively by examining the patients admitted to the pediatric intensive care unit for the treatment of DKA. The ages of the patients ranged from 2 to 18 years. The patients with the following parameters were enrolled in the study: serum blood glucose>200 mg/dL, ketonuria presence, venous blood gas pH ≤7.1, bicarbonate <15. Results. A total of 56 patients were included in the study with a mean age of 111.07 ± 51.13 months. The recovery time from DKA was 16.05 ± 6.25 h in the group with low lactate level and it was 13.57 ± 8.34 h in the group with high lactate level with no statistically significant difference. There was a negative correlation between lactate levels and the recovery time from DKA. Conclusion. Lactic acidosis is common in DKA, and unlike other conditions, such as sepsis, it is not always a finding of poor prognosis that predicts the severity of the disease or mortality. We think that high lactate may even protect against possible brain edema-cerebral damage in DKA.

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Background. Molecular defects in the SHOX gene including deletions, duplications or pathogenic point mutations are responsible for well-known pathologies involving short stature as a clinical manifestation: Léri–Weill dyschondrosteosis, Langer mesomelic dysplasia, Turner syndrome or idiopathic short stature. Duplications flanking the SHOX gene (upstream or downstream of the intact SHOX gene involving conserved non-coding cis-regulatory DNA elements - CNEs) have been described but their clinical involvement is still difficult to understand. Results. We describe two cases with short stature and normal GH-IGF1 status. Multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (arrayCGH) identified in both cases heterozygous duplications involving downstream regions of SHOX gene, within CNEs (CNE8, CNE9 and CNE4, CNE5, CNE6, ECR1, CNE8, CNE9 and surrounding areas, respectively). One of the cases showed a maternally inherited duplication. Although every case has several particularities, we consider that duplications in these non-coding regions of SHOX gene may explain the short stature phenotype. Conclusion. To our knowledge, these are the first Romanian-reported cases of ISS with a large duplication of downstream SHOX enhancers CNEs region. The spectrum of phenotypic consequences and the exact mechanism of the presumed clinical expression of these genetic alterations still needs to be evaluated and described.

Context. Phosphoinositide-3-kinase (PI3K) pathway inhibitors are increasingly used as targeted therapy in malignancies. We discuss here three cases of PI3K inhibitor induced hyperglycemia and discuss the mechanism of action of these medications and treatment of this class side effect. Objectives. Alpelisib (Piqray) is the newest PI3K inhibitor used in conjunction with Fulvestrant to treat specific types of breast cancer. Since PI3K is a critical mediator of insulin signaling, hyperglycemia is an on-target, unfortunate side effect of this treatment. We present a case series of severe hyperglycemia induced by the alpelisib in three women without a history of diabetes. Design. All three women in this study had hormone receptor (HR) positive, human epidermal growth factor receptor 2 (Her2) negative, PI3K mutated breast cancer. They were referred to our clinic by Oncology for alpelisibinduced hyperglycemia. Subjects and Methods. Review of laboratory values and glucometer values were conducted during each visit allowing treatment decisions. Two of these women are actively managed by us for their diabetes. One woman recently died due to progression of malignancy. Results. All three women presented with new onset of severe hyperglycemia after the initiation of PI3K inhibitor, alpelisib. At least one case noted maximal glucose elevation in the hours following drug ingestion. In another, cessation of Alpelisib reversed the hyperglycemia within the span of one week. Conclusion. Hyperglycemia induced by PI3K inhibitors can be recalcitrant and might necessitate interruption of chemotherapy. Optimal glucose-lowering therapy remains unclear as exogenous insulin has the theoretical potential to overcome PI3K inhibition.

Intermittent hypoxia and ventilatory intermittence due to sleep disorders such as obstructive sleep apnea can lead to cardiac arrhythmia, coronary artery disease, conductance disturbances and cardiac failure. Sub-clinical and overt hypothyroidism is an important physiopathological complex that is linked with cardiovascular risk, alteration of lipidic profile promoting atherogenic mechanisms. The two pathologies combined can exponentially increase the cardiovascular event risk. This case report demonstrates a young patient with obesity and arterial hypertension accusing irregular heart beats. Despite a normal resting ECG and echocardiography the patient presented malignant ventricular arrhythmias revealed on the 24h Holter ECG. The Epworth scale was 20 and the patient presented numerous episodes of hypopnea with an increased apnea-hypopnea index associated with ventricular arrhytmias on the polisomnography. The endocrine profile of the patient revealed a sublinical hypothyroidism that untreated can lead to accelerated atherosclerosis and arrhytmic risk. CPAP treatment alongside the levothyroxine treatment at TSH levels above 10mUI/L have controlled the malignant arrhythmic events without complex antiarrhythmic drugs sustaining the pathogenic contributions of this two pathologies in arrhythmogenesis process.

Context. Neuroendocrine tumors are tumors developing from primitive cells in the intestinal walls, but can also affect the lungs, liver, pancreas, ovaries. Objective. We aim to describe the clinical, imagistic and biologic aspect of neuroendocrine tumors with different localizations and present the evolution, treatment options and prognosis. Design. Four patients either with previously known neuroendocrine tumors or with newly discovered tumors were studied. Subjects and methods. The first patient was diagnosed with primary liver carcinoid with pulmonary metastases by abdominal and thoracic CT scan, liver biopsy and determination of serologic markers. The second patient was diagnosed with primary lung neuroendocrine tumor using thoracoscopy biopsy and serologic markers The third patient was diagnosed with a large gastric neuroendocrine tumor with liver and spleen metastases. using CT scan, MRI and biopsy from the abdominal mass. The fourth patient was diagnosed with primary liver carcinoid using imagistic methods (CT scan) and liver biopsy. Results. The first patient died after 4 months due to the extent of the disease and comorbidities. The second patient had a good evolution, as the tumor was diagnosed in a localized stage. The third patient had a decreased survival due to the dimensions of the primary tumor and the multiple liver metastases which later caused obstructive jaundice requiring external biliary drainage. The fourth patient has had a good evolution, the tumor masses in the liver are being kept under control using transarterial chemoembolization. Conclusion. Neuroendocrine tumors are very versatile both in location and clinical aspect. The diagnosis requires imagistic methods but it is imperative to perform biopsy of the lesions with special histologic stains in order to be sure of the diagnosis.