Endocrine Abstracts

Recurrent hypercalcemia after successful parathyroidectomy has been reported to be higher than previously thought. Most cases are transient and often associated with other factors, with only a minority requiring treatment. Multidisciplinary diagnosis is necessary to prevent persistence and recurrence. A 55-year-old female patient with a history of surgical removal of a right parathyroid adenoma four years prior, lost from follow-up, was referred to our clinic for persistent as...

Introduction: Turner syndrome (TS) is a chromosomal disorder that arises due to the complete or partial loss of one sex chromosome, impacting approximately 1 in every 2500 to 3000 female births. The phenotype is attributed to haploinsufficiency of genes on the X chromosome, which are resistant to inactivation. Virilizing symptoms appearing in a patient with TS advocates for an endocrine assessment and karyotyping to ascertain the virilization’s etiology, enabling prompt i...

Introduction: Testotoxicosis, also known as familial male limited precocious puberty, is a rare cause of peripheral precious puberty caused by an activating mutation of the gene encoding for the LH receptor on Leydig cells (LHCGR gene, cr2p21). This causes autonomous testosterone production irrespective of prepubertal LH values. Ultimately, this can cause psychosocial complications; advanced bone age and low adult height; as well as central precocious puberty.<p class="abs...

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: SARS-Cov-2 infection challenged the appropriate management of acromegaly, because of delayed or limited admissions and treatment. Despite lack of data regarding SARS-Cov-2 infection in acromegalic patients (only one case reported to date), increased susceptibility to infection and poor prognosis might be triggered by the associated metabolic, cardiovascular and respiratory comorbidities. We report a series of acromegaly patients with a positive PCR test at their ...

Introduction: Paragangliomas (PGLs) are tumors originating from neural crest-derived cells situated in the region of the autonomic nervous system ganglia. Head-and-neck PGLs (HNPGLs) originate from the sympathetic and parasympathetic paraganglia, most frequently from the carotid bodies and jugular, tympanic and vagal paraganglia, and are usually non-catecholamine secreting.Case report: We present the case of a 60 years old male patient, which was admitte...

Introduction: Acromegaly is a rare, complex condition that throughout its evolution affects the body on numerous levels, especially if inappropriately managed. Some of the complications it develops over time are ophthalmic, neurological and psychiatric.Aim: The aim is to asses the impact of long-term acromegaly on the eye, nervous system and mental health of previously diagnosed patients.Patients and method: 90 patients’ recor...

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: Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome is a rare genetic disorder bearing a germline and a somatic CDC73 mutation. The features of HPT-JT are clinically difficult to ascertain because the parathyroid disease, ossifying fibroma in the jaw and other abnormalities, often occurs asynchronously and may be diagnosed and treated separately. The association of jaw ossifying fibroma with primary hyperparathyroidism (PHPT) is typical of HPT-JT.<p class="abstex...

Introduction: Thyrotropin-secreting pituitary adenomas are rare tumors accounting for 1–2% of all pituitary adenomas and the diagnosis is based on the combination of high fT4 levels with normal to high TSH concentration in the presence of a pituitary adenoma. About one third co-secrete other hormones, of which, most frequently growth hormone (16%) followed by prolactin and gonadotropins.Case report: A 60 years-old male patient presented in 2016 afte...