Endocrine Abstracts

Introduction: Adrenocortical carcinoma (ACC) is a rare malignancy with high recurrence and poor prognosis. Lactate dehydrogenase (LDH) is an enzyme of the glycolytic pathway that is associated with tumour progression in several cancers. To date, evidence on the prognostic value of LDH in ACC is limited.Aims: To assess the impact of LDH in disease-free survival (DFS) in operated ACC.Materials and methods: Retrospective cohort study ...

IntroductionThe Carney Complex (CNC) is a rare, autosomal dominant, multiple endocrine neoplasia. It involves multiple endocrine glands, cardiac and skin myxomas, mammary fibroadenomas and mucocutaneous pigmentation. Cushing’s syndrome, due to primary pigmented nodular adrenocortical disease (PPNAD), is described in 25% of the cases.Case reportWoman, 21-year-old, was refered for secondary amenorrhea. Med...

Introduction: Turner syndrome (TS) is one of the most common chromosomal abnormalities, characterized by systemic involvement and susceptibility to some disorders that begin or progress in adult life. These lead to an increase in morbidity and mortality and a decrease in quality of life. The aim of this study was to analyse the profile of women with TS, who are currently followed in endocrinology, regarding: karyotype, age, final height and weight, puberty and fertility, and m...

IntroductionPheochromocytomas (PHEO) and paragangliomas (PGL) are neuroendocrine tumors arising from the chromaffin cells of the adrenal medulla and extra-adrenal autonomic paraganglia, respectively. They are rare and generally benign neuroendocrine tumors. However, malignancy (defined as the evidence of metastases in nonchromaffin sites distant from the primary tumor) occurs in 2 to 26%. Malignant PHEO and PGL are very challenging malignancies associate...

IntroductionParathyroid carcinoma (CaPa) is an extremely rare cause of primary hyperparathyroidism. Patients with CaPa usually present severe hypercalcemia with abrupt bone and renal diseases, neurologic manifestations and gastrointestinal symptoms. However, sometimes the presentation is insidious with nonspecific symptoms and mild hypercalcemia. Surgery is the only curative treatment and after surgery close monitoring of calcium levels are necessary due...

Introduction: McCune-Albright syndrome (MAS) consists of at least two of the following three conditions: polyostotic fibrous dysplasia (PFD), café-au-lait skin pigmentation and autonomous endocrine hyperfunction. The most common form of autonomous endocrine hyperfunction is precocious puberty, but other syndromes may be present, including acromegaly, hyperthyroidism, and Cushing syndrome. Acromegaly is seen in approximately 20% of patients with MAS. Treatment opt...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid (VLCFA) transporter. Clinically, X-ALD can present a wide spectrum of phenotypes, being the most frequent Adrenomyeloneuropathy, with ataxia, spastic paraparesis, sexual and sphincter dysfunction. Adrenocortical insufficiency (AI) occurs mainly in paediatric age and it can be the first manifestation of the disease in some cas...

Introduction: Congenital Adrenal Hyperplasia (CAH) results from enzymatic defects caused by autossomal recessive hereditary mutations characterized by deficient cortisol synthesis and, in most cases, increased androgen synthesis. 90–95% of the cases are originated by deficits in 21-hydroxylase and, in about 75% of the cases, there is evidence of mineralocorticoid deficiency.Case report: A 37-year-old patient was referred to an Endocrinology departm...

Introduction: Adrenal hematomas are a relatively rare clinical condition and its prevalence has been reported to be about 1%. Although various causes have been proposed, the ethology and pathophysiology are still not fully understood, and the symptoms range is very variable, from asymptomatic situations to haemorrhagic shock. Imaging is a challenging method to establish the diagnosis of adrenal hematomas, and in most cases, it is only possible after surgery. Surgery is routine...

Introduction: Adrenocortical carcinoma (ACC) is a rare and aggressive tumor, with a poor prognosis and median survival of 3–4 years. Complete surgical resection is the only possibility of cure. The rate of post-surgical recurrence is high, so adjuvant treatment with mitotane plays a key role.Objectives: To evaluate predictive factors of response to adjuvant treatment with mitotane in monotherapy in patients that underwent surgical resection of ACC....