Endocrine Abstracts

Background CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however 85% of the cases remain with unknown molecular aetiology.Patient and methodsA newborn boy (46, XY) delivered by CS due to IUGR with a birthweight of...

Background: ACTH-dependent Cushing’s syndrome (CS) is mostly associated with corticotroph adenomas or, infrequently, ectopic ACTH secretion(EAS). Adrenals may show diffuse bilateral enlargement or even macronodules. Adrenal metastases may occur in various cancers. They are often bilateral, irregular, with attenuation values >20 Hounsfield units(HU) on unenhanced CT scan and elevated SUVmax on FDG-PET scan. They may cause adrenal insufficiency due to the destruction of...

Background: Type III hyperlipidaemia (T3HL) is characterised by equimolar increases in plasma triglyceride and cholesterol on an APOE2/2 genotype background and conveys a high risk of early-onset cardiovascular disease (CVD). Phenotypic penetrance of T3HL is <10% and precipitated by several endocrine/metabolic disorders such as obesity, diabetes and hypothyroidism. We explored the effect of triglyceride-raising polygenic score precipitating T3HL, in the context of...

Triple A syndrome (AAAS), a rare and debilitating autosomal recessive disorder. It is characterised by adrenal failure, alacrima and achalasia; ~70% patients develop a neurodegeneration. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for the selective nuclear import of DNA protective molecules and is important for cellular redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic...

Introduction: Ephrin receptors (EPHs) compose the largest known subfamily of receptors tyrosine kinases and are bound and interact with EPHs-interacting proteins (Ephrins). They have a role in tumor growth, invasion, angiogenesis and metastasis of several neoplasms. Aim of the study was to investigate the expression of EPH-A4, -A5, -B2 and -B5 in pituitary lesions. Material and Methods: Our study group consisted of 18 patients (9 males with median age 54...

Purpose: To present a rare case of diabetic ketoacidosis due to thyrotoxicosis and massive pulmonary embolism.Case presentation: A 40-year-old man from Cameroun, with history of type 2 diabetes treated with gliclazide and metformin, presented with vomiting and abdominal pain. His vital signs were: blood pressure 140/80 mmHg, heart rate 184 beats per minute and temperature 38.2 °C. On admission, laboratory investigation revealed hyperglycemia, hypero...

Rationale/Objective: Diabetes Mellitus (DM) and Interstitial lung Disease (ILD) share common pathogenetic pathways involving inflammatory cells and in particular monocytes and macrophages. Diabetic patients are at higher risk of developing pulmonary fibrosis, whereas DM is a major comorbidity in ILD patients. In our study, we analyzed retrospectively patients with ILD and aimed to examine differential characteristics between patients with and without DM, including disease para...

Context: Nicotinamide nucleotide transhydrogenase (NNT) is a NADPH-generating mitochondrial proton pump with a central role in mitochondrial antioxidant pathways. Recent studies revealed inactivating NNT mutations in patients with familial glucocorticoid deficiency, indicating a selective susceptibility of the adrenal cortex to NNT deficiency and oxidative stress. Here we explored the potential value of NNT as a therapeutic target in adrenocortical cancer.<p class="abstext...

Introduction: Struma ovarii (SO) is a specialized monodermal teratoma predominantly composed of mature thyroid tissue (>50%). It accounts for ~5% of all ovarian teratomas. Thyrotoxicosis is seen in about 8% of patients with SO. Most struma ovarii are benign with only 5–10% being malignant. Malignant SO causing thyrotoxicosis is very uncommon.Case presentation: A 64-year-old woman had been diagnosed with thyrotoxicosis 2 years ago. The thyroid gl...

Introduction: Virilizing tumors are rare, but frequent cause of virilization in postmenopausal women.Case report: A 62-year-old postmenopausal woman presented with a rapid onset of hirsutism with increased terminal hair growth, particular on chin and abdomen, frontal male pattern balding in the last 5 months. Physical examination revealed a low-pitched, deepened voice and clitoromegaly. The Ferriman–Gallwey score was 18. Laboratory evaluation: Testo...