ACTA ENDOCRINOLOGICA (BUC)

Introduction. Congenital adrenal hyperplasia (CAH) autosomal recessive disorders characterized by impaired adrenal steroid hormone synthesis. The most common form is 21-hydroxylase deficiency (21OHD). Testicular adrenal rest tumors (TARTs) are benign intratesticular masses that occur in male patients with CAH. TARTs are quite common in patients with 21OHD who were diagnosed late. Case report. A 41-year-old male patient with CAH secondary to 21OHD. The patient was referred to our endocrinology department from the andrology clinic for bilateral adrenal masses. Bilateral orchiectomy had been performed due to bilateral testicular masses and azoospermia two years ago. The pathology was reported as Leydig cell tumor. In hormonal assessment, baseline cortisol levels were low, 17-hydroxyprogesterone levels with baseline and after cosyntropin stimulation test were high. As a result of clinic and laboratory assessment, the patient was diagnosed with simple virilising CAH due to 21OHD and adrenal insufficiency. Then, prednisolone replacement was initiated. Bilateral orchiectomy tissue blocks of the patient were reassessed and were considered TART. Magnetic resonance imaging revealed bilateral adrenal masses with 88x55 mm on the right and 41x22 mm on the left. Laparoscopic right adrenalectomy was applied and pathology was reported as myelolipoma. Follow-up of the mass on the left adrenal gland is ongoing. The patient is monitored under prednisolone and testosterone replacement therapy. Early diagnosis of CAH is very important because of the complications it causes. It should be considered especially for bilateral testicular and/ or adrenal masses. Both fertility and adrenal glands can be protected with an early diagnosis and an early glucocorticoid replacement.

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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.

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.

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