hrp0086p2-p169 | Bone & Mineral Metabolism P2 | ESPE2016

Rickets as Precocious Sign of Celiac Disease

Cristina Maggio Maria , Vergara Beatrice , Corsello Giovanni

Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians.Objective and hypotheses: Explain clinical severity by a genetic background.Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (10° Cent), 12.5 kg (3–10° Cent); PH1B1. She showed typical ...

hrp0086p1-p830 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment

Maggio Maria Cristina , Malacarne Michela , Vergara Beatrice , Corsello Giovanni

Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods.Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms.Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (<−5 SDS), 33 kg ...

hrp0084p3-607 | Adrenals | ESPE2015

Homozygosity for a Mutation in the CYP11B2 Gene and GH Deficiency in a Child with Severe Growth Delay

Maggio Maria Cristina , Vergara Beatrice , Salvo Caterina , Porcelli Paolo , Fabiano Carmelo , Corsello Giovanni

Background: Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types 1 and 2. In type 1, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type 2, a residual activity of aldostero...