hrp0097p2-58 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Kenny Caffey syndrome 2; expanding the clinical spectrum

Hatziagapiou Kyriaki , Sertedaki Amalia , Dermentzoglou Vasiliki , Kanaka-Gantenbein Christina , D. Sakka Sophia

Background: Kenny–Caffey syndrome 2 (KCS 2) is a rare cause of hypoparathyroidism, characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular long bones, delayed closure of anterior fontanel and eye abnormalities.Objective: We report the case of a 4-years’-old boy, who presented with the characteristic, and newly identified clinical, biochemical, radiological and genet...

hrp0097p2-237 | Diabetes and Insulin | ESPE2023

Genetic evidence for a causal relationship between severe hyperlipidemia and Type 1 Diabetes.

Koniari Eleni , Hatziagapiou Kyriaki , Skouma Anastasia , Chaliotis Fotis , Drosatou Panagiota , Tsani Evelina , Blatsa Vasiliki , Chrousos George

Background: In type 1 diabetes (T1D), the pancreatic βcells are selectively destroyed by the immune system resulting in absolute insulin deficiency. It has been long established that approximately half of the genetic risk for T1D is conferred by genetic loci associated with β-cell function, apoptosis, and regeneration.Aim: We report the case of a 6- year-old boy with new onset type T1D, and identified genetic l...

hrp0097p1-152 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

The awakening of the hypothalamic-pituitary-gonadal axis in the post-COVID era; the Greek experience.

Hatziagapiou Kyriaki , Anargyros Vasilakis Ioannis- , Binou Maria , Dolianiti Maria , C. Nicolaides Nicolas , Zoumakis Emmanouil , Papathanasiou Chryssanthi , Gkougkouli Eleni , Barouti Konstantina , Kanaka-Gantenbein Christina , D. Sakka Sophia

Background: Puberty onset results from the interplay between genetic and environmental factors. During COVID-19 pandemic, children experienced epidemic-related changes, such as stress, sedentary lifestyle, excessive use of electronic devices, all leading to weight gain.Objective: The aim of our study is to retrospectively evaluate the incidence of premature activation of the hypothalamic-pituitary-gonadal axis, as eviden...