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ey0016.5-10 | Clinical Guidance | ESPEYB16

5.10. Hypoparathyroidism

Abstract: N Engl J Med. 2019 May 2;380(18):17381747.In brief: This article carefully reviews available data and provide useful hands-on tips for the management of hypoparathyroidsm. It also points out areas where additional data are needed. This is mandatory reading for any aspiring endocrinologist.Comment: Hypoparathy...

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ey0019.5-9 | Translational highlights | ESPEYB19

5.9. PTH and FGF23 exert interdependent effects on renal phosphate handling: evidence from patients with hypoparathyroidism and hyperphosphatemic familial tumoral calcinosis treated with synthetic human PTH 1-34

D Ovejero , IR Hartley , LF de Castro Diaz , E Theng , X Li , RI Gafni , MT Collins

J Bone Miner Res. 2022 Feb;37(2):179-184.Abstract: https://pubmed-ncbi-nlm-nih-gov/34464000/In Brief: Fibroblast growth factor 23 (FGF23) and parathyroid hormone (PTH) both negatively regulate serum phosphate by increasing renal phosphate excretion. The clinical observation that both PTH and FGF23 are needed for adequate renal phosphate handling is confirmed in this experimental patient stu...

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ey0016.4-13 | New Paradigms | ESPEYB16

4.13. Growth hormone-Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome

D Tessaris , AM Boyce , M Zacharin , P Matarazzo , R Lala , L De Sanctis , MT Collins

To read the full abstract: Clin Endocrinol. 2018;89:5664.McCune Albright syndrome (MAS) is a rare disorder caused by somatic gain-of-function mutations of the GNAS gene [1]. This gene encodes the α-subunit of the Gs protein and its mutations are responsible for persistent stimulation of adenylyl cyclase and dysregulated production of cyclic AMP leading to persistent o...

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ey0020.3-1 | Novel Treatments for Rare Skeletal Disorders | ESPEYB20

3.1. Safety and efficacy of denosumab for fibrous dysplasia of bone

LF de Castro , Z Michel , K Pan , J Taylor , V Szymczuk , S Paravastu , B Saboury , GZ Papadakis , X Li , K Milligan , B Boyce , SM Paul , MT Collins , AM Boyce

In Brief: This phase 2 study investigated the effect of the RANKL inhibitor denosumab on fibrous dysplasia lesion activity, as well as the rebound in bone turnover after treatment discontinuation.Commentary: Denosumab is a humanized monoclonal antibody that inhibits RANKL with potent but transient antiosteoclastic effects, and discontinuation of denosumab treatment is associated with a rebound in bone turnover. In this study, eight women received high do...

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ey0020.3-4 | Advances in Clinical Practice | ESPEYB20

3.4. Skeletal and extraskeletal disorders of biomineralization

MT Collins , G Marcucci , HJ Anders , G Beltrami , JA Cauley , PR Ebeling , R Kumar , A Linglart , L Sangiorgi , DA Towler , R Weston , MP Whyte , ML Brandi , B Clarke , RV Thakker

In Brief: This is a timely and well-written review on disorders of biomineralization and their fundamental mechanisms and by leading experts in the field. This is mandatory reading for any aspiring endocrinologist.Commentary: Biomineralization is a critical physiological process, and deviations from it can cause various diseases. Recent progress has furthered our understanding of the genetic, molecular, and cellular underpinnings of the disorders of biom...

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ESPE Yearbook of Paediatric Endocrinology

5.10. Hypoparathyroidism

5.9. PTH and FGF23 exert interdependent effects on renal phosphate handling: evidence from patients with hypoparathyroidism and hyperphosphatemic familial tumoral calcinosis treated with synthetic human PTH 1-34

4.13. Growth hormone-Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome

3.1. Safety and efficacy of denosumab for fibrous dysplasia of bone

3.4. Skeletal and extraskeletal disorders of biomineralization

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