Endocrine Abstracts

Persistent organic pollutants (POPs) are environmental contaminants that interfere with normal hormonal homeostasis and act as endocrine disrupting compounds (EDC). These molecules can mimic hormone effects on metabolism. The links between metabolism and cancer are now well established. Metabolism generates reactive oxygen species (ROS), which contribute to mutations and induces oncogenic transformation. In turn, cancer cells display high metabolic flexibility allowing them to...

Cushing’s syndrome is a fascinating clinical challenge, both for diagnosis and management. Despite being a rare disease, it has many causes consisting of a broad variety of tumors. These tumors can arise from different tissues (i.e. pituitary, adrenal, lung…) varying from small benign and even non detectable tumors, to large aggressive cancers. The secretory spectrum of these tumors is broad qualitatively and quantitatively. It results from the molecular alterations...

There is a variety of adrenocortical tumors that can be responsible for different cortisol excess levels. Genomics allowed recently many progress in this field. Exome sequencing allowed to identify somatic activating mutations of the catalytic subunit of PKA (PRKACA) in cortisol secreting adenomas responsible for overt-Cushing. Combining pangenomic snp analysis and whole genome sequencing led to the identification of inactivating germline mutations of a new tumor supp...

Introduction: Parathyroid carcinoma is a rare cause of hyperparathyroidism. In most cases, hyperparathyroidism is caused by a single benign adenoma. The vast majority of the remaining cases are caused by parathyroid hyperplasia or multiple adenomas. We present here a case of a young Filipina who presented with multiple fractures on all extremities and bilateral parathyroid adenoma.Case presentation: A 19-year-old Filipina presented with bone pains for 7 ...

Adrenocortical cancer (ACC) is a rare tumor with an overall poor prognosis. However outcome is heterogeneous and the indication and type of medical therapy should be personalized on the basis of tumor stage and prognostication. The initial diagnostic and extension work-up of an ACC is an important step. Most patients with ENSAT stage 1–3 ACC and some stage 4 ACC will be operated and pathological analysis is important for management. The goals of medical treatment are to c...

Receptor-activator of nuclear factor kB (RANK), its ligand RANKL and the soluble decoy receptor osteoprotegerin (OPG) are the key regulators of osteoclast differentiation and bone remodelling. Although there is a strong association between osteoporosis and skeletal muscle atrophy, the functional relevance of a particular biological pathway that regulates synchronously bone and skeletal muscle physiopathology remain elusive. We thus hypothesized that RANK/RANKL/OPG, which is a ...

Background: Pregnancy has a profound impact on the thyroid gland and its function. Severe thyrotoxicosis can lead to many complications and endanger the mother or fetus. Antithyroid drug (ATD), at its lowest possible dose, should be given. However, one of the complications of treatment include agranulocytosis which is a rare but serious allergic event with a prevalence of 0.1 to 0.5 percent. Thus, alternative treatment should be prescribed because a cross-reaction between ATDs...

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is manifested as absent or incomplete puberty and biochemically low levels of sex hormones, with low or inappropriately normal gonadotropin hormones. In the absence of structural or functional lesions of the hypothalamic or pituitary gland, the hypogonadism is referred as idiopathic hypogonadotropic hypogonadism (IHH). IHH is a genetically heterogeneous disorder which can be caused by pathogenic variants affecting prot...

Background: Non-ketotic hyperglycemia hemichorea is a movement disorder characterized by irregular, involuntary and abrupt hyperkinetic movements caused by hyperglycemia. The pathophysiology remains unclear however there are several theories on its mechanism. The diagnosis is confirmed by presence of involuntary irregular movements combined with findings of hyperdensities on the basal ganglia in cranial computed tomography scan (CT-scan) or magnetic resonance imaging scan (MRI...

Introduction: The effect of self-prescribed cross-sex hormone therapy on Male-to-Female (MtF) transgenders do not appear to have been well investigated and can be associated with potential serious longterm complications. The main purpose of this study is to look at the clinical and metabolic profile, and cardiovascular outcomes of MtF transgenders in Zamboanga Peninsula.Methodology: This is a cross-sectional study, done to determine the clinical and meta...