Endocrine Abstracts

Introduction: Brown tumors are rare, destructive, osteolytic bone lesions, occurring in advanced stages of hyperparathyroidism, due to increased osteoclastic activity.Case report: A 25-year-old woman presented with recent, intractable pain on the right shoulder and with hypercalcemia (Ca, 3.93 mmol/l) related to severe primary hyperparathyroidism (PTH, 494 pg/ml). Multiple osteolytic lesions, detected on the upper extremity of the right humerus, distal r...

We report the case of 57-year-old man with end-stage renal disease, primary hyperparathyroidism and after an surgery of upper parathyroid glands with ectopic parathyroid localized in lung. Patient was directed to our hospital to perform diagnostics on hyperparathyroidism. Two years earlier (2011) patient was hospitalized because of weakness and weight loss, and was diagnosed with primary hyperparathyroidism. In 2012 he underwent the bilateral parathyroidectomy of upper glands ...

Introduction: Testicular morphology and immunohistochemistry have never been reported in genetically documented adult patients with 5α-reductase type 2 deficiency (5α-R2 deficiency).Case report: We describe the testicular histopathology of a 17-year-old XY female with primary amenorrhea, failure of pubertal breast development, virilization, clitoromegaly, and bilateral cryptorchidism (testes located in the inguinal canals). The diagnosis of 5&#...

Introduction: The pituitary non-secreting microadenomas (or incidentalomas) are frequently diagnosed over the last decades thanks to imagery scan progresses and access. The gonadal dysfunction, as well as other pituitary deficiency is related to common genetic backup (+/− other pituitary dysfunctions) or may be incidental.Aim: We analyzed the endocrine profile in pituitary incidentalomas (microadenomas).Material and method: A...

An incidentaloma is a mass lesion found by chance on imaging for a reason unrelated to the site of the lesion. Adrenal incidentalomas, as a result of advances in imaging technology, have an increased incidence, especially in the aging population. An endocrine referral is advised to determine if the lesion is functional, to exclude malignancy and offer on going appropriate follow-up.Aim: To assess the incidence and audit the management of adrenal incident...

Background: Vitamin D is important to skeletal health and is standard care in conditions with low BMD. Thyrotoxicosis caused by Graves’ disease (GD) leads to increased bone turnover and reduced BMD. We aimed to test the hypothesis that vitamin D supplementation would improve bone recovery in GD.Methods: Using a double-blinded design, hyperthyroid patients with a first time diagnosis of GD were randomized to supplementation with vitamin D3 70 mg/day...

Background: Secondary hyperparathyroidism (SHPT) is an adaptive process that develops in response to declining kidney function, impaired phosphate excretion, and failure to bioactivate vitamin D. The signal transduction via the calcium-sensing receptor (CaSR) is a key determinant of parathyroid gland hyperplasia.Aims: To examine the polymorphisms rs1801725 (p.Ala986Ser, G>T), rs1042636 (p.Arg990Gly, A>G), rs1801726 (p.Glu1021Gln, G>C) of ...

Introduction: An aim of the ERNs is empowering patients, by education & learning about their experiences after diagnosis of a rare endocrine disease (RED), to identify gaps and improve outcome. Thus, EndoERN Work Package 4 designed a survey, to learn about patients perceptions on quality of care and existing gaps in diagnosis/management.Aim: Evaluate results of a 21 question survey answered on-line on a Likert scale by individual patients with RED or...

Introduction: Neuroendocrine tumours (NETs) of unknown primary site are relatively uncommon, representing about 10% of all NETs. Of these, particularly the well-differentiated NETs often present initially with liver metastases, and most of these represent gastroenteropancreatic NETs. The presence of carcinoid syndrome is also common.Case presentation: We describe the case of a 40 years-old patient presented in 2013 with flushing, diarrhea, and back pain....

Background: Primary hyperaldosteronism or Conn’s syndrome is one of the adrenocortical causes of hypertension, alongside hyperdeoxycorticosteronism, apparent mineralocorticoid excess and Cushing syndrome. The two types of hypertension-inducing adrenocortical syndromes (Conn’s and Cushing) are extremely rare to be decribed in the same patient. We describe a case of a patient with clinical and biochemical evidence of Conn’s syndrome due to a left adrenal adenom...