Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p024 | (1) | ICCBH2017

Spondyloepiphyseal dysplasia: A rare cause of short stature

Vlachopapadopoulou Elpis , Dikaiakou Eirini , Panagiotopoulos Ioannis , Zambakides Christos , Anagnostou Elli , Papadakis Vassilios , Michalacos Stefanos

Background: Short stature is a very common reason for referral to a pediatric endocrinologist. Endocrine and non endocrine causes are involved. Short stature can be classified as symmetrical or non-symmetrical. Numerous monogenic causes of growth disorders have been identified.Presenting problem: To present two brothers with familial spondyloepiphyseal dysplasia presenting with short stature and very low growth velocity starting at the age of 8 years. Th...

ba0006p043 | (1) | ICCBH2017

Pseudohypoparathyroidism type IB: A cause of late hypocalcemia

Vlachopapadopoulou Elpis , Dikaiakou Eirini , Anagnostou Elli , Mackay Deborha , Tsolia Mariza , Michalacos Stefanos , Hanna Patrick , Linglart Agnes , Karavanaki Kyriaki

Background: Hypocalcemia presenting in adolescence is rare. Most common etiology is autoimmune hypoparathyroidism. Pseudohypoparathyroidism (PHP) is a rare group of disorders characterized by end-organ resistance to parathyroid hormone (PTH), and other hormones, such as TSH, with or without features of AlbrightÂ’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented complaining of fatigue and spontaneous carpal spasms in associati...

ba0006oc2 | (1) | ICCBH2017

Methylation patterns at the novel DMR of GNAS (GNAS-AS2) in pseudohypoparathyroidism 1B (PHP1B or iPPSD3) subtypes

Hanna Patrick , Rochtus Anne , Jueppner Harald , Mackay Deborah , Francou Bruno , Bouligand Jerome , Mantel Anne , Anagnostou Elli , Vlachopapadopoulou Elpis , Gaillard Dominique , Delemer Brigitte , Linglart Agnes

PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...