Endocrine Abstracts

Primary hyperparathyroidism (PHPT) is a common endocrine disease mainly caused by a single parathyroid adenoma. Although the localization of the parathyroid adenoma is not a surgical criteria for parathyroidectomy, this is known to increase the cure rate of PHPT and reduce the complication rate. Neck ultrasound and MIBI-scintigraphy are the first-line localization techniques to detect parathyroid adenomas, however, they have some limitations including the operator-dependent se...

The ‘canonical’ Wnt/β-catenin pathway plays an important role in the development and patterning of bone. Dkk1 (Dickkopf1) and sclerostin are competitive soluble inhibitors of this pathway. Serum sclerostin is decreased in patients with primary hyperparathyroidism (PHPT) compared to the healthy subjects and hypoparathyroid (HypoPT) patients. No data are currently available on Dkk1 serum level in PHPT.We evaluated serum Dkk1 and sclerostin l...

Tumoral calcinosis is a rare autosomal recessive disease characterized by hyperphosphatemia due to increased renal phosphate reabsorption leading to soft tissue calcifications. The levels of fibroblast growth factor 23 (FGF23), a hormone required for normal renal phosphate reabsorption, are typically low in the classic form of the disease due to homozygous missense mutations in FGF23 or in the UDP-Nacetyl-alpha-D galactosamine:polypeptide N-acetylgalactos...

The G protein-coupled calcium sensing receptor (CaSR), widely expressed on the surface of parathyroid chief cells and in the kidney, plays a central role in calcium homeostasis. Activating mutations of CaSR gene are responsible for autosomal dominant hypocalcemia (ADH), a rare disorder caused by hypocalcemia, hyperphosphatemia, hypercalciuria and inadequately low concentration of parathyroid hormone (PTH). In this study, we report a family affected by ADH. The proband...

Pseudohypoparathyroidism (PHP) is group of heterogeneous disorders characterized by hypocalcemia, hyperphosphatemia and elevated paratormone (PTH) levels as a result of end-organ resistance to PTH. Basal ganglia calcification (BGC) in states of hypoparathyroidism is not uncommon. In PHP, BGC can occur up to 50%; the pathogenesis is poorly defined. The aim of our study was to evaluate the prevalence of BGC at baseline observation in a series of patients with PHP followed at a t...

Introduction: Hypoparathyroidism (HPT), pseudohypoparathyroidism (PHP), and end-organ parathyroid hormone (PTH)-resistance are rare metabolic disorders characterized by low serum calcium and increased serum phosphorus due to a PTH-deficient or resistant state. Various genes/loci have been identified as responsible for the development of congenital/familial forms of HPT, PHP and related diseases.Patients and Methods: A total of 39 patients with a clinical...

Autosomal dominant hypocalcemia type 1 (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of PTH. It is caused by a heterozygous activating mutation of the calcium-sensing receptor (CASR) gene, resulting in decreased sensitivity of the receptor to low serum calcium. The aim of our study was to describe a series of patients with ADH1 followed at our outpatient clinic from 2011 to 2023. A total of 7 patients (4 femal...

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder, characterized by the predisposition to the development of multiple endocrine tumors mainly affecting parathyroids, gastroenteropancreatic neuroendocrine tissues (GEP-NET) and pituitary (PT). Mutations of the MEN1 gene are responsible for the disease and may be inherited from one of the parents or more rarely can occur de novo. In children and adolescence there is a paucity of cl...

Introduction and aims: Primary Hyperparathyroidism (PHPT) is a common endocrine disease associated with hypercalcemia and elevated or inappropriately normal serum levels of PTH. Among PHPT manifestations, neuropsychological symptoms have been described, including depression, anxiety, loss of memory, impaired cognition, with a wide range (3-50%) depending on the study population. Neuropsychological/ccognitive symptoms in patients with PHPT have been evaluated as part of quality...

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism (H), deafness (D) and renal abnormalities (R). Its genetic cause is known to be the haploinsufficiency of the zinc finger transcription factor GATA3. This disorder exhibits a great clinical variability and an age-dependent penetrance of each feature. The most frequent manifestation is sen...