hrp0092p1-166 | Adrenals and HPA Axis (1) | ESPE2019

Cortisol levels in glucagon stimulation tests in children evaluating for short stature: clinical and laboratorial correlations

Maliachova Olga , Triantafyllou Panagiota , Slavakis Aris , Dimitriadou Meropi , Christoforidis Athanasios

Background: Glucagon stimulation test (GST) is used to assess growth hormone (GH) and cortisol reserves in children being investigated for GH deficiency, as a small percentage of children with idiopathic GH deficiency can also exhibit deficiency in the adrenocorticotrophic hormone (ACTH)-cortisol axis. However, the extent of normal cortisol response after glucagon stimulation and its associations with clinical and laboratory parameters have not been thoroughly...

hrp0089p2-p095 | Diabetes & Insulin P2 | ESPE2018

Impaired Adrenal Function in Pediatric Patients with Diabetes Mellitus Type 1 Evaluated with Low-Dose Synacthen Test

Kalymniou Marialena , Dimitriadou Meropi , Slavakis Aris , Christoforidis Athanasios

Background: Primary adrenocortical insufficiency (AddisonÂ’s disease) is reported to be five more times frequent in adult patients with type 1 diabetes mellitus (T1DM) than in the general population with a multifactorial aetiology involving autoimmune, inflammatory and metabolic mediators. Recent data indicate that more than half of children with T1DM show subnormal cortisol response. Subnormal cortisol response may impair the metabolic control of patients with T1DM as the...

hrp0084p3-955 | GH & IGF | ESPE2015

Thyroid Function in Children Treated with rhGH for GH Deficiency

Triantafyllou Panagiota , Georeli Irene , Dimitriadou Meropi , Maliahova Olga , Daflos Anreas , Christoforidis Athanasios

Background: The relation between thyroid function and treatment with recombinant human GH (rhGH) has been the subject of many studies which indicate a decrease of fT4 levels and a compensatory TSH increase at rhGH therapy onset. On the other hand, we have identified a number of patients with documented primary hypothyroidism (either on treatment with L-thyroxine or not) before the onset of rhGH treatment.Objective and hypotheses...

hrp0086rfc12.5 | Neuroendocrinology | ESPE2016

A Novel MKRN3 Nonsense Mutation Causing Familial Central Precocious Puberty

Christoforidis Athanasios , Skordis Nicos , Fanis Pavlos , Dimitriadou Meropi , Sevastidou Maria , Phelan Marie M. , Neocleous Vassos , Phylactou Leonidas A.

Background: The onset of puberty is influenced by the interplay of stimulating and restraining factors, many of which have a genetic origin. Premature activation of the GnRH secretion in central precocious puberty (CPP) may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.Objective and hypotheses: Explore the genetic cau...

hrp0089fc13.1 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Molecular Screening of Genes Associated with Central Precocious Puberty

Fanis Pavlos , Neocleous Vassos , Toumba Meropi , Gorka Barbara , Stylianou Charilaos , Galli-Tsinopoulou Assimina , Nicolaou Stella , Kyriakou Andreas , Dimitriadou Meropi , Christoforidis Athanasios , Skordis Nicos , Phylactou Leonidas A

Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis through the activation of the gonadotropin releasing hormone (GnRH). Gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function mutations of the makorin RING-finger protein 3 (MKRN3) have been linked with CPP. Moreover intronic and intragenic variants harbouring the imprinted loci of MKRN3-MAGEL2 and DLK1 g...