Endocrine Abstracts

Introduction: Gitelman syndrome(GS) is a salt-wasting tubulopathy characterized by renal potassium wasting, hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and hyperreninemic hyperaldosteronism. It is caused by the mutation of genes encoding sodium chloride (NCCT) and magnesium transporters in the thiazide-sensitive segments of the distal nephron (SLC12A3 and TRMP6 gene). GS is a rare autosomal recessive disease with a prevalence of only 25 cases per one millio...

Pineal germinomas account for the majority of intracranial germ cell tumors. Surgery and radiation are usual management options, and secondary hypopituitarism can ensue after both. Diabetes insipidus is particularly common after surgical removal of pineal tumors, but improvement in polyuria and polydipsia years after surgery is exceedingly rare. Here, we present the case of a 49-year-old male, who was diagnosed with a pineal germinoma at the age of 20, which was surgically rem...

Introduction: The connection between the pharynx and thyroid is close, so in the situations of concomitance: thyroid nodules and pharynx infiltration is very difficult to establish the primary lesion. Extralaryngeal spread of laryngopharyngeal cancer to the thyroid gland can occur by three pathways: direct extension, lymphatic spread or hematogenous spread. Of these three mechanisms, direct extension is the main mechanism because of the close anatomical relationship of the thy...

Introduction: Bartter syndrome (BS) is a rare autosomal recessive disorder, with an estimated prevalence of 1 in 1.000.000. It is characterized by a primary defect in sodium chloride reabsorption in the medullary thick ascending limb of Henle’s loop. Severe hypokalemia, metabolic alkalosis, hyponatremia, hypochloremia, hyperaldosteronism, and increased urinary loss of sodium, potassium, and chloride can raise the suspicion of BS, but genetic testing is required for a defi...

Introduction: Lipodystrophic syndromes are rare and heterogeneous disorders characterized by the complete or partial deficiency of adipose tissue. They can be classified according to the extent of fat loss in generalized or partial subtypes and genetic or acquired based on the pathogenic mechanisms.Case report: A 37-year-old man was referred to our department with a history of nonalcoholic steatohepatitis associated with high levels of triglycerides (720...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder often diagnosed in asymptomatic individuals on routine biochemical screening, which, if left untreated, can have devastating consequences. The main target organs of PTH are the skeletal system and the kidneys. Asymptomatic hypercalcaemia in young adults is uncommon, and patients who remain asymptomatic should be monitored for the development of complications that justify surgery.<p class="abste...

Introduction: Paraganglioma (PGL) is a neuroendocrine tumor (NET) originating from the neural crest cells. Head and neck paraganglioma (HNPGL) often presents as an asymptomatic slow growing tumor and is rarely functional. Adrenal incidentaloma (AI) is defined as a silent adrenal mass detected on imaging performed for unrelated disorder. Malignant peripheral nerve sheath tumor (MPNST) is a variety of soft tissue sarcoma derived from cells of neural crest....

Introduction: The association between pituitary adenoma and hyperparathyroidism is the main feature of multiple endocrine neoplasia (MEN) 1 but also for a novel MEN4 syndrome. Germline mutations in the cyclin-dependent kinase (CDK) inhibitor 1b gene (CDKN1B) were identified in patients with MEN4. The most common phenotype of the 19 established cases of MEN4 that have been described since now is primary hyperparathyroidism (PHPT) followed by pituitary adenomas. There are a limi...

Introduction: Ovarian hyperthecosis (OH) is a rare condition, reported only in case reports and small case series and is characterized by severe hyperandrogenism leading to virilisation and insulin resistance. The term hyperthecosis refers to the presence of luteinized thecal cells within a hyperplastic ovarian stroma and the pathophysiology of this remains poorly understood. Despite the fact that hyperandrogenism is a relatively common clinical problem, severe hyperandrogenis...

Introduction: Addison’s disease is a rare disorder, described mainly in isolated cases. The two most common cause of primary adrenal insufficiency are autoimmune adrenalitis and adrenal tuberculosis, which is still the primary cause of primary adrenal insufficiency (PAI) in developing countries. Adrenal tuberculosis is difficult to diagnose, the classic presentation with non specific symptoms delay the diagnosis. In some cases, the background of tuberculosis and hyperpigm...