hrp0092p3-144 | GH and IGFs | ESPE2019

A Case of Paediatric GH-secreting Pituitary Adenoma Apoplexy

Partenope Cristina , Gallo Dario , Pitea Marco , Pajno Roberta , Weber Giovanna , Barera Graziano , Cinzia Pozzobon Gabriella

Background: Paediatric pituitary adenomas comprise rare but challenging pathologies in children and adolescents related to their endocrine and neurological characteristics.Objective and Hypotheses: We aimed to describe a case report of growth hormone (GH)-secreting pituitary adenoma apoplexy.Method: a 11-year-old girl presented with fever, sudden headache with vomiting. She abruptl...

hrp0086p2-p664 | Growth P2 | ESPE2016

Case Report of SHOX Gene Haploinsufficiency Diagnosed in Early Infancy

Cinzia Pozzobon Gabriella , Gallo Dario , Damia Chiara , Partenope Cristina , Marinella Gemma , Osimani Sara , Pajno Roberta , Weber Giovanna

Background: SHOX-D is rarely diagnosed in early infancy as cause of short stature.Objective and hypotheses: Describe clinical characteristics of two girls with an early diagnosis of Leri-Weill dyschondrosteosis, admitted to our hospital because of severe short stature.Method: Mutation screening of SHOX and its regulatory regions was performed by MLPA. Family analysis was undertaken.Results: The first 1.3 year...

hrp0097p2-117 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Pediatric onset hypophosphatasia: a case report

Mascaro Rossella , Lia Magnacavallo Anna , Finamore Martina , Ferri Chiara , Palmoni Monica , Polenzani Ilaria , Rizzi Alessia , Laura Carla Meroni Silvia , Bucolo Carmen , Pitea Marco , Weber Giovanna , Barera Graziano , Cinzia Pozzobon Gabriella

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...