Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Symposia

Disorders of Gsalpha Signaling

hrp0082s1.1 | Disorders of Gsalpha Signaling | ESPE2014

Pseudohypoparathyroidism

Bastepe Murat

Pseudohypoparathyroidism (PHP) is a disorder of hormone resistance characterized by end-organ resistance to the actions of parathyroid hormone (PTH). The resistance primarily occurs in the renal proximal tubule, thus leading to hypocalcemia, hyperphosphatemia, and elevated serum PTH. Indicating the resistance in this tissue, patients with PHP show blunted phosphate excretion in response to exogenously administered PTH. In PHP type I, the patients additionally demonstrate blunt...

hrp0082s1.2 | Disorders of Gsalpha Signaling | ESPE2014

McCune–Albright Syndrome

Collins M

The McCune–Albright syndrome can be a disease of striking complexity, the management of which can be challenging. However, an understanding of the physiologic consequences of the underlying molecular and developmental biology makes the evaluation and treatment of this disease relatively straightforward. MAS arises from activating mutations in the ubiquitously expressed cAMP-signaling protein, Gsα. The mutations occur very early in development, prior to gas...

hrp0082s1.3 | Disorders of Gsalpha Signaling | ESPE2014

New Therapies in Metabolic Bone Disease: PTH

Linglart Agnes

Hypoparathyroidism is a rare disease manifesting as hypocalcemic seizures, developmental delay, sluggishness, paresthesias and/or dyskinesia. Symptoms reveal hypocalcaemia associate with increased serum phosphorus and undetectable, low or unadapted PTH levels. Known causes of hypoparathyroidism are cervical surgeries causing irreversible damage to the parathyroid tissue, toxic attack of the parathyroid cells by antibodies, and genetic defects affecting parathyroid development,...