hrp0084p3-1043 | Growth | ESPE2015

GH Deficiency in a Patient with 4p16 Deletion: An Infrequent Association with Wolf–Hirschhorn Syndrome

Polychroni Ioulia , Xatzipsalti Maria , Fryssira Helen , Stamogiannou Lela

Background: Wolf–Hirschhorn syndrome (WHS) is caused by variably-sized deletion of chromosome 4 involving 4p16 whose typical craniofacial features are ‘Greek warrior helmet appearance’ of the nose, microcephaly and prominent grabella. Almost all patients show mental retardation and growth delay.Case presentation: We report on a patient carrying a 4p16 deletion and GH deficiency treated with recombinant human GH (rhGH). The patient is male,...

hrp0095p2-122 | Fat, Metabolism and Obesity | ESPE2022

Pediatric Endocrine evaluation of Marfan syndrome: A case report

Koutaki Diamanto , Vourdoumpa Aikaterini , Bacopoulou Ioanna , Fryssira Helen , Charmandari Evangelia , Paltoglou George

Background: Endocrine disorders associated with tall stature in childhood are frequently evaluated by Pediatric Endocrinologists. The most common non-endocrine genetic cause of tall stature, Marfan syndrome, is a rare autosomal dominant genetic condition of the connective tissue, which presents with specific dysmorphic features, including thin physique, long extremities and normal growth rate. Little is known regarding the association of Marfan syndrome with o...