hrp0082p2-d3-563 | Puberty and Neuroendocrinology (2) | ESPE2014

Endocrine Abnormalities in Phosphoglucomutase 1 Deficiency

Mueksch Barbara , Morava Eva , Lefeber Dirk , Claahsen-van der Grinten Hedi , Korsch Eckhard

Introduction: Phosphoglucomutase 1 catalyzes the interconversion of glucose-6-phosphate and glucose-1-phosphate. Phosphoglucomutase 1 deficiency (PGM1-CDG), previously termed glycogenosis type XIV (OMIM 612934), is a rare variant of the congenital disorders of glycolysation (CDG), resulting in abnormal attachment and processing of protein linked N-glycans. We present a girl with PGM1-CDG and delayed pubertal development and review the endocrine findings of the few pat...

hrp0082lbp-d3-1004 | (1) | ESPE2014

Methyl Donor Deficiency Impairs Pre-Osteoblast Differentiation Through PGC-1α Hypomethylation and Increased ERRα

Feigerlova Eva , Ewu Essi , Weryha Georges , Leininger Brigitte , Gueant Jean-Louis

Background and aims: Folate and vitamin B12 are methyl donors (MD) needed for the synthesis of methionine, which is the precursor of S-adenosylmethionine (SAM), the substrate of methylation in epigenetic, and epigenomic pathways. Low dietary intakes of folate and vitamin B12 are frequent, especially in pregnant women and in the elderly, and deficiency constitutes a risk factor for various diseases. The MD deficiency (MDD) leads to a decrease in SAM:SAH (S-ade...

hrp0082lbp-d3-1013 | (1) | ESPE2014

Copy Number Determination of CYP21A2 Gene Supplements the Molecular Biological Analysis of Hungarian Patients with 21-Hydroxylase Deficiency

Klara Koncz , Andrea Luczay , Marton Doleschall , Racz Karoly , Attila Patocs , Sallai Agnes , Hosszu Eva , Halasz Zita

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by 21-hydroxylase deficiency in 95% of all cases. This disorder is related to the mutation of CYP21A2 gene that is located in a multiallelic complex called RCCX module showing tandem copy number variation. Molecular genetic analysis of genes located in such region is frequently difficult but the accurate diagnosis of patients suspected with CAH requires a complex molecular analysis.<...

hrp0084p2-393 | GH &amp; IGF | ESPE2015

Study of IGF1 Receptor Gene in Small for Gestational Age Patients with Short Stature Treated with RHGH

Ferrer Marta , de Arriba Antonio , de Zabarte Jose Miguel Martinez , Barrio Eva , Labarta Jose Ignacio

Background: IGF1 is essential for pre and postnatal growth. Mutations in IGF1 receptor (IGF1R) gene have been described in patients with intrauterine growth retardation and other anomalies.Objective and hypotheses: To study IGF1R gene in small for gestational age (SGA) patients with short stature and correlate the results with clinical presentation and response to rhGH treatment.Method: Longitudinal retrospective study of 69 SGA pa...

hrp0084p3-1025 | Growth | ESPE2015

New Point Mutation in Short Stature Homeobox Gene Leads to Phenotype of Lery-Weill Dyschondrosteosis

Koffeman Eva , Hoorweg-Nijman Gera , van Santen Hanneke , Volker-Touw Nienke

Background: Short stature homeobox (SHOX)-related haploinsufficiency is associated with a wide clinical variability, all characterized by growth failure with or without mesomelia and/or Madelung deformity. In patients, the effect of GH therapy on final height is comparable to the effect that can be obtained in Turner syndrome. The majority of the patients with SHOX-related haploinsufficiency disorder have deletions of varying sizes in SHOX. Point mutations in SHOX account for ...

hrp0094p1-16 | Bone A | ESPE2021

Leptin to adiponectin ratio at the age of 12 is negatively associated with lumbar spine bone mineral apparent density independently of body fat mass in 18-year old males.

Tamme Reeli , Jurimae Jaak , Maestu Evelin , Remmel Liina , Purge Priit , Mengel Eva , Tillmann Vallo ,

Background: Inconsistent associations of leptin and adiponectin with bone mineral characteristics in puberty and adolescence have been reported.Aim: To examine associations between leptin to adiponectin ratio (LAR) in puberty and bone mineral characteristics at 18 years of age and increase of bone mineral characteristics until 18 years of age.Materials and methods: 88 boys were investigated with a ...

hrp0094p1-88 | Pituitary A | ESPE2021

Pituitary microadenomas in childhood – is follow-up with diagnostic imaging necessary?

Borghammar Camilla , Tamaddon Askan , Erfurth Eva-Marie , Sundgren Pic C , Siesjo Peter , Nilsson Margareta , Elfving Maria ,

Aim: We aimed to investigate the growth potential of pituitary microadenomas and cystic lesions < 10mm in children, and to evaluate how reproducible the measurements were on magnetic resonance imaging (MRI).Design: Retrospective observational study.Methods: 74 children were included < 18 years at first pituitary MRI, and diagnosed with a microadenoma (microadenoma producing ACTH, GH or TSH ...

hrp0097p1-95 | GH and IGFs | ESPE2023

Clinical and laboratory characteristics in children with growth hormone deficiency (GHD) and short stature unresponsive to stimulation tests (SUS)

Dalla Bona Eva , Andrea Lanzetta Maria , Tamaro Gianluca , Faleschini Elena , Tornese Gianuca

Background: It has been previously proposed that not all children with short stature displaying an inadequate response to tests for growth hormone (GH) secretion truly suffer from GH deficiency (GHD). Instead, amongst these, solely children with an identifiable monogenic cause of GHD or an identifiable functional or anatomical anomaly in the hypothalamic-pituitary axis should be considered GHD. The remaining patients should be defined as affected by “sho...

hrp0098fc14.4 | Fetal and Neonatal Endocrinology | ESPE2024

Efficacy and Safety across Subgroups in Children with Congenital Hyperinsulinism Treated with Dasiglucagon

Banerjee Indraneel , S. Thornton Paul , Birch Sune , Boge Eva , Ivkovic Jelena , Gondolf Theis , D Leon Diva

Background: Congenital hyperinsulinism (CHI) is a rare disease affecting neonates, infants, and children caused by dysregulated insulin secretion resulting in severe recurrent hypoglycemia. Early treatment is necessary to limit the risk of neurologic and developmental sequelae. Dasiglucagon is a glucagon analog (stable liquid formulation) suitable for continuous subcutaneous infusion shown to raise blood glucose in a dose-dependent manner. Result...

hrp0098p2-181 | Growth and Syndromes | ESPE2024

Mimicking the diagnosis - new challenge for pediatric endocrinology?

Vitáriušová Eva , Pribilincová Zuzana , Hrčková Gabriela , Košťálová Ľudmila

We present two cases in which we would like to point out the similarity of the clinical manifestation of the rare syndromes and the need for rigorous genetic analysis in detecting the origin of the disease. First patient is 2 years old boy examined due to severe muscle hypotonia, psychomotor delay and severe growth retardation (SDS of height -2,6). He was born as small for gestational age. Hypopituitarism was excluded. His phenotype strongly resembled Silver Russell syndrome, ...