Endocrine Abstracts

Adrenocortical cancer is a rare, aggressive disease, requiring a fast and multidisciplinary approach. The genetics is heterogeneous so is also the clinical course. In the last 10 years, we have diagnosed and treated a number of 20 cases, aged at diagnosis between (34–74 years) (mean 55.9±12.87), followed up between (2–77 months) (mean 25.75±23.58). The maximal diameter of the tumor was (5.5–25) (mean 10.95±5.43). The secretion profile was Cushing ...

Aggressive pituitary tumors (APT) causing Cushing’s Disease are very rare, difficult to treat. The majority of Crooke’s corticotropinomas are macroadenomas, exhibiting rapid growth, resistance to conventional treatments, a high recurrence rate. To date, there is no fully effective method of treatment for these tumors. Pituitary carcinomas (PC) are defined by distant metastasis. PC is exceedingly rare, comprising only 0.1–0.2% of all pituitary neoplasms but APT m...

Introduction: Primary amenorrhea is defined as the absence of menses at age 15 years in the presence of normal growth and secondary sexual characteristics, or at 13 years, if there is no breast development. We retrospectively assessed the causes of primary amenorrhea in a series from an academic center of adult endocrinology.Patients and methods: We retrieved data from the files of 111 consecutive patients with primary amenorrhea evaluated in our center ...

Adrenal carcinoma is a very rare malignancy accounting for 0.05–0.2% of all cancers, with an incidence 0.5–2/106.We present the case of a 60 year old woman with impaired fasting glucose and hypertension, who was incidentally diagnosed, after a non-enhanced abdominal CT, with a right adrenal tumor of 4.5/6 cm. The mass was described as having smooth borders, and a heterogeneous aspect including solid parts, necrotic areas and 1 microc...

Giant prolactinomas are rare pituitary tumors, defined as adenomas greater than 4 cm, with extrasellar extension, presenting with PRL levels > 1000 ng/dl. Dopamine agonists (DA) are the first-line treatment. Most (90%) of giant prolactinomas occur in men.We describe two cases of giant prolactinoma. A 17 years man presented with frontal headache, gradual visual deficit, nausea and dizziness. MRI demonstrated a sellar tumor of 6.4 cm with extrasellar e...

Background: First-line therapy of ACTH-independent Cushing’s Syndrome (CS) is the resection of the underlying tumor in all cases. After surgical cure of CS, most patients develop transient secondary adrenal insufficiency with a variable time of recovery. Adrenal function testing can identify patients who may require glucocorticoid replacement.Methods: We reviewed 61 patients diagnosed with ACTH-independent CS excluding 6 with adrenocortical carcinom...

Background: X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder of beta-oxidation that results in accumulation of very long chain fatty acids (VLCFAs) in various tissues. The clinical phenotype of X-ALD in adults is variable and involves adrenal, gonadal and nervous system dysfunction (adrenomyeloneuropathy, AMN). Patients with AMN typically develop spastic paraparesis due to progressive degeneration of the cerebral white matter.Objective: To r...

Introduction: Von Hippel-Lindau (VHL) disease is an inherited, autosomal dominant syndrome manifested by a variety of benign and malignant tumors, with an incidence of about 1 in 36 000 individuals and a mean age at presentation of 26 years.We present a family (mother and daughter) case of possible type 2A VHL disease diagnosed with multiple VHL-associated tumors in the absence of an available genetic testing. They both presented in our clinic in 2013 wi...

Medullary thyroid carcinoma (MTC) is an aggressive form of malignancy, virtually incurable except by complete surgical resection. With insidious onset and occasional rare clinical variants, it is often diagnosed late in the course of disease and has a poor prognosis. We aimed to evaluate diagnostic efficiency, treatment modalities and outcome in patients admitted to our department between 2004 and 2015, diagnosed with MTC, with emphasis on rare clinical presentations. We ident...

Objective: To determine if the response to one single dose of 0.5 mg cabergoline (CAB) can be used as predictor for choosing personalized therapy of hyperprolactinaemia. Although CAB is a selective, long half-life D2-receptor agonist some patients proved to be resistant with minimum to no response in serum prolactin and tumour shrinkage, even after a few months of treatment.Patients and methods: A dose of 0.5 mg CAB was administered orally to a number of...