Endocrine Abstracts

Aim: We had noted that certain patients with metastatic mid-gut carcinoid had subcutaneous nodules in the gluteal region. This prompted us to assess this in more detail as the concern was whether these represented metastases.Method: A cross-sectional study was designed to assess CT scans of 56 patients with metastatic mid gut carcinoid attending the Neuroendocrine Tumour Clinic. These were analysed by two independent radiologists blinded as to the treatm...

Introduction: Pigmented micronodular adrenal dysplasia (PMNAD) is an infrequent cause of Cushing syndrome ACTH-independent, and can form a part of Carney syndrome (CS). In both, regulatory subunit mutations of the protein kinase A (PRKAR1A) have been demonstrated, but without apparent genotype-phenotype correlation.Objective: To demonstrate the mutation of PRKAR1A and its functional and clinical expression in a family affected with PMNAD.<p class="ab...

Introduction: Kallmann Syndrome (KS) consists of hypogonadotropic hypogonadism and anosmia, and is 5 fold more prevalent in males. There is a considerable clinical and genetic heterogeneity and a crescent interest in autosomal genes. The FGFR1 gene, located on the short arm of chromossome 8, encodes a glycoprotein fibroblast growth factor receptor and FGFR1 mutations has been identified in 10% of KS patients. The clinical picture include typical KS and associated features....

Cushing’s syndrome is a rare disorder in children and adolescents. The diagnosis can be a challenge for the clinician, as its principal feature – obesity – is extremely common. We present three cases diagnosed in the last 20 years. The first one was a boy aged 17 that presented in 1984 with central obesity, acne, moon face with plethora, abdominal striae, easy bruising and skin atrophy. The investigations performed consisted in cortisol and ACTH plasma measureme...

Prediction of the biological behavior in non-functioning pituitary adenomas (NFPA) according to morphological criteria is highly inaccurate. Reliable prognostic molecular markers could be useful in providing guidance in NFPA post-surgical follow-up.Aim: To identify differentially expressed genes between aggressive and non-aggressive NFPAs and to assess their prognostic value.Methods: Samples analyzed were selected from a series of ...

Background: Cardiovascular disease (CVD) is the leading cause of death in persons with type 1 diabetes (T1DM). However, there are no CVD-risk prediction models for this population in widespread use and those developed from general population and type 2 diabetes have been shown to underestimate CVD-risk in T1DM. Recently, the Steno Type 1 Risk Engine (ST1RE) was developed for predicting CVD in a cohort of T1DM persons without clinical CVD. We investigate the relationship betwee...

Purpose: A combined model of clinical, biochemical and radiological variables could help to predict autonomous cortisol secretion (ACS) in adrenal incidentalomas (AI).Methods: We analyzed retrospectively 100 patients diagnosed of AI between 2011 and 2015. AI was defined as an adrenal mass>1 cm, accidentally discovered by radiologic examination. ACS was ruled out (ACS-) by serum cortisol post-dexamethasone suppression test (Nugent) <3 μg/dl, ...

Introduction: Adrenal insufficiency is a life-threatening disease caused by primary adrenal failure or secondary adrenal failure due to an impairment of hypothalamic-pituitary axis that affects adrenal cortisol synthesis. It is characterized by deficient production of glucocorticoids and may be associated with mineralocorticoid and androgens deficiency. Prompt diagnosis and management are essential and may even be life-saving.Methods: We retrospectively ...

Introduction: HNF-1β maturity-onset diabetes of the young (MODY5) is uncommon, nevertheless accurate diagnosis guides individualized management and informs prognosis in probands and relatives.Objective: To emphasize the importance of the appropriate use of clinical, biochemical and genetic investigations for the correct classification of diabetes etiology.Case-report: A 35-year-old overweight Latin-American male was diagnosed ...

Introduction: Maternally inherited diabetes and deafness (MIDD), is a rare entity. Most commonly, it is related to a point mutation in the mitochondrial DNA (mtDNA) at position 3243 (m.3243A>G) encoding the gene for tRNA. A high index of suspicion is required for the diagnosis due to a wide heterogeneity in its clinical presentation which reflects different levels of mutated mtDNA among mitochondria in a given tissue (heteroplasmy). Thyroid cancer risk has never been speci...