Endocrine Abstracts

Since the first description of inactivating PTH/PTHrP signaling disorders (iPPSDs, historically named pseudohypoparathyroidism (PHP)) a remarkable clinical variability was observed, especially in clinical presentation, which seems to be age-dependent. The main clinical features, including PTH resistance, brachydactyly and short stature, develop during mid and late childhood, whilst minor clinical features such as a round face, rapid weight gain and subclinical hypothyroidism a...

Eneboparatide (AZP-3601) is a novel, synthetic, 36-amino-acid peptide agonist of the parathyroid hormone type 1 receptor (PTHR1), with potent selectivity for the R0 conformation. This results in prolonged calcemic responses, while having a short circulating half-life. Eneboparatide is being developed for the treatment of chronic hypoparathyroidism (cHP). Studies in hypoparathyroid animal models and, most recently, in hypoparathyroid patients, have demonstrated that eneboparati...

Background: Treatment of primary hyperparathyroidism (PHPT) and secondary hyperparathyroidism due to idiopathic hypercalciuria (SHPT-IH) is markedly different. Nevertheless, differentiating one from another remains a challenge and robust diagnostic tools are lacking. The thiazide challenge test (TCT) has been proposed as a means to aid clinicians in their decision making. However, evidence supporting its use is scarce.Materials and Methods: We performed ...

Aim: Thyroid Stimulating Hormone (TSH) suppression treatment may have a detrimental effect on bone tissue in differentiated thyroid cancer (DTC) patients. The current study aimed to investigate vertebral fracture, bone mineral density measurements, and TSH levels in DTC patients under levothyroxine (LT4) suppression treatment after total thyroidectomy and/or radioiodine ablation therapy in a multicentric setting.Material and Method: This multicentric cro...

Idiopathic Infantile Hypercalcemia (IIH) is a rare inborn form of severe vitamin D hypersensitivity, with an estimated incidence of 1:33.000 live birth and a high degree of misdiagnosis. Since the identification of CYP24A1 loss-of-function variants inducing IIH in 2011, over 41 pathogenic variants have been described, and represent the major genetic drivers of IIH1. CYP24A1 encodes the main catalytic hydroxylase of the bioactive form of vitamin D (1,25D3). Upon bind...

Current clinical presentation of PHPT is mild disease with an increased risk of fragility fractures. PHPT predominantly occurs in postmenopausal women, who have an increased risk of osteoporosis and fractures due to ageing and loss of estrogen.Aims: To explore skeletal phenotypes in postmenopausal women affected by PHPT with a wide clinical and biochemical spectrum of disease.Patients: Postmenopausal (at least 5 years from last men...