hrp0084p3-728 | Diabetes | ESPE2015

Assessment of the Effect of the Diagnosis of Type 1 Diabetes Mellitus in the Nutritional Habits of Unaffected Family Members

Karaiskou Avgi , Triantafyllou Panagiota , Christoforidis Athanasios

Background: Type 1 diabetes mellitus (T1DM) is a chronic and demanding disease affecting not only the patient’s life but also the whole family’s perspective. Many studies have explored the effect of T1DM on the emotional and social life of the family; however, a small amount of evidence for the dietary habits of the unaffected members of the family currently exists.Objective and hypotheses: To explore the effects that T1DM has on the dietary ha...

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 (Addison’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...

hrp0089p2-p380 | Thyroid P2 | ESPE2018

Celiac Disease Screening Should be Routinely Offered in Pediatric Population with Autoimmune Thyroid Disease

Resta Maria , Triantafyllou Panagiota , Agakidis Charalampos , Maliachova Olga , Christoforidis Athanasios

Background and Hypothesis: Autoimmune thyroid disorders (AITD), including Hashimoto’s Thyroiditis (HT) and Grave’s disease (GD), are known to cluster with other autoimmune disorders (AID). There seem to exist both a pathophysiological basis of immunomodulator genes and epidemiological indications of a higher prevalence of AID including Celiac disease (CeD) in patients with AITD, compared to that in the healthy pediatric population. CeD is asymptomatic in a large prop...

hrp0084p2-424 | GH & IGF | ESPE2015

Timing of GH Peak in Provocation Tests is Important in Predicting the Effectiveness of Treatment with rhGH in Prepubertal Children with GHD

Georeli Irene , Triantafyllou Panagiota , Slavakis Aris , Christoforidis Athanasios

Background: Peak GH level during stimulation tests (STs) stands as an important parameter in growth prediction models and recently it was shown that timing of the peak value in glucagon stimulation test (GST) may be an important indicator of growth hormone deficiency (GHD).Objective and hypotheses: To detect a possible relationship between timing of the peak value of GH during STs and the effectiveness of treatment with rhGH in children with idiopathic G...

hrp0094p2-32 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia caused by homozygous pathogenic variant in the HSD3B2 gene.

Fylaktou Eirini , Christoforidis Athanasios , Moutsanas Vissarios , Sertedaki Amalia , Kanaka-Gantenbein Christina ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. 3βhydroxysteroid dehydrogenase type 2 deficiency (3βHSD2 deficiency) is a rare form of CAH (<0.5%) due to pathogenic variants in the HSD3B2gene encoding for the enzyme Type 2 3β-hydroxysteroid dehydrogenase Δ4–Δ5isomerase (3&#946...

hrp0084p3-955 | GH &amp; 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...

hrp0086p1-p730 | Pituitary and Neuroendocrinology P1 | ESPE2016

MKRN3 Mutations and Central Precocious Puberty

Neocleous Vassos , Toumba Meropi , Sevastidou Maria , Phelan Marie M , Shammas Christos , Nicolaou Stella , Stylianou Charilaos , Christoforidis Athanasios , Fanis Pavlos , Phylactou Leonidas A , Skordis Nicos

Background: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis and increasing evidence suggests a genetic origin. Premature activation of the GnRH secretion in 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: To identify loss-of-...