hrp0082p3-d1-976 | Thyroid | ESPE2014

Adiposity and Pubertal Status Effects on Thyroid Function in Overweight Children and Adolescents

Giannakopoulos Aristeidis , Pervanidou Panagiota , Lazopoulou Natalia , Chrousos George , Kanaka-Gantenbein Christina

Background: In recent years, studies have consistently demonstrated higher TSH concentrations in overweight/obese children and adults compared with normal weight individuals, whereas the levels of thyroid hormones in peripheral blood remain within normal range. This euthyroid hyperthyrotropinemia on the background of a worldwide increase in childhood obesity raises the question of whether subjects with this elevated TSH should be treated.Objective and hy...

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...

hrp0097p1-349 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Compound heterozygous variants in ROBO1 gene cause CPHD and middle line defects

Sertedaki Amalia , Macropoulou Panagiota , Nikaina Eirini , Binou Maria , Farakla Ioanna , Siahanidou Tania , Kanaka-Gantenbein Christina

Abstract: Combined Pituitary Hormone Deficiency (CPHD) is characterized by growth hormone and at least one other pituitary hormone deficiency. It is of varying etiology, extent and severity and it usually occurs sporadically with only 10% of cases being familial. Although pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus and/or pituitary have been identified so far to cause genetic forms of CPHD, the aetiology...

hrp0097p2-188 | Adrenals and HPA Axis | ESPE2023

7-year-old girl as compound heterozygote of non-classic congenital adrenal hyperplasia

Bali Maria , Sotiriou Spyridoula , Magoula Marousa , Kalamara Panagiota , Papafotiou Chrysanthe , Papagiannidi Marina , Ioannidou Gerina

Background: Deficiency of 21-hydroxylase (CYP21A2) is responsible of 90-95% of all cases of congenital adrenal hyperplasia (CAH). CYP21A2 converts 17OHprogesterone into 11deoxycortisol and is encoded by the CYP21A2 gene on chromosome 6p21.3, within the class III region of the highly polymorphic HLA histocompatibility complex. CAH refers to a group of autosomal recessive disorders. Nonclassic CAH (NCAH) is milder and more common, however it may not be identifie...

hrp0097p2-216 | Adrenals and HPA Axis | ESPE2023

Non classic congenital adrenal hyperplasia caused by mutations in CYP21A2

Magoula Marousa , Sotiriou Spyridoula , Bali Maria , Kalamara Panagiota , Papafotiou Chrysanthe , Papagiannidi Marina , Ioannidou Gerina

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis caused by the deficiency of 21-hydroxylase which convert 17-hydroxyprogesterone to 11-deoxycortisol. A variety of mutations in one or more genes encoding enzymes essential for cortisol synthesis leads to a spectrum of disorders and disease severity. In general, complete or nearly complete enzymatic defects result in overt adrenal insufficien...

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...

hrp0098p3-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Burosumab as a treatment for x-hyposphosphametic rickets:report of two cases

Georgia Maltezou Panagiota , Bekiou Vasiliki , Alexopoulou Efthymia , Doulgeraki Artemis , Karachaliou Foteini-Eleni

Background: X-linked hypophosphatemic rickets (XLH) is a relatively rare chronic bone metabolism disorder, caused by mutations in the X chromosome's PHEX gene. Fibroblast growth factor 23 (FGF23) levels rise, and bone metabolism is affected. The monoclonal antibody burosumab represents a novel therapeutic strategy for managing XLH, targeting the pathophysiology of the disorder. We present our experience of two XLH-diagnosed pediatric patients treated with...

hrp0098p3-138 | GH and IGFs | ESPE2024

Growth hormone deficiency in a child with known gm1 gangliosidosis

Bekiou Vasiliki , Maltezou Panagiota-Georgia , Ntinopoulos Argirios , Giorgi Melpomeni , Stefanede Artemis , Karachaliou Fotini-Eleni

Background: GM1 gangliosidosis falls in the category of endogenous metabolic disorders and is characterized by β-galactosidase deficiency. It is inherited in an autosomal recessive manner and is characterized by neurodevelopmental deficits, generalized hypotonia, dystonia and the presence of convulsions and also skeletal malformations such as a prominent forehead, kyphoscoliosis, brachydactyly and joint flexions. The association of the disease with growth...

hrp0089p1-p023 | Adrenals and HPA Axis P1 | ESPE2018

Associations Between Maternal and Offspring Hair Cortisol Concentrations and Child Behavioral Symptoms in Pairs of Children 18–48 Months Old and their Mothers With and Without Perinatal Mental Disorders

Agapaki Anna , Papagianni Fenia , Valavani Eleni , Zervas Ioannis , Mantziou Aimilia , Kanelli Stamatina , Spyropoulou Areti , Chrousos George , Pervanidou Panagiota

Introduction: Maternal perinatal mental disorders (PMDs) are associated with developmental and behavioral problems in the offspring, probably mediated by the programming of the limbic-hypothalamic-pituitary-adrenal (LHPA) axis. Increased or decreased cortisol concentrations during pregnancy and the perinatal period have been associated with alterations in the stress responses of the offspring and with child behavioral problems; however, such associations remain unclear.<p ...

hrp0089p2-p074 | Diabetes &amp; Insulin P2 | ESPE2018

The Application of Next Generation Sequencing Mody Gene Panel in Greek Patients

Tatsi Elizabeth , Smirnaki Penelopi , Triantafilou Panagiota , Tsiroukidou Kyriaki , Kotsa Kalliopi , Lambadiari Vaia , Chrousos George , Kanaka-Gantenbein Christina , Sertedaki Amalia

Background: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD). It is characterized by early onset, autosomal dominant inheritance and a defect in β cell insulin secretion. To date 14 different MODY subtypes have been reported each one with a distinct genetic aetiology. However four are the most common subtypes, namely MODY 1 (HNF4A), MODY2 (GCK), MODY3 (HNF1A), MODY...