hrp0082p2-d1-592 | Thyroid | ESPE2014

Iodine-Deficiency Levels in Schoolchildren Aged Between 6 and 12

Munoz-Serrano Ana , Gonzalez-Gonzalez Abel , Maria Tenias-Burillo Jose , Falero-Gallego Piedad , Canete Ramon

Background: Iodine deficiency is the main cause of endemic goitre. A total of 29.8% of the world’s school-age children insufficient iodine intake. A population is deemed iodine-sufficient when median iodine levels are over 100 μg/l; measured iodine deficiency serves as a diagnostic criterion for determining the extent to which goitre is endemic, and also as an indicator of the gradual eradication of iodine-deficiency disorders.Patients, materia...

hrp0082p3-d2-675 | Bone (1) | ESPE2014

FGFR3 Gene: a Very Rare Mutation

Hawkins Magdalena , Alcalde Ana , Yebra Julia , Quintero Victor , Trujillo-Tiebas Maria Jose , Canete Alfonso

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...

hrp0084p2-215 | Bone | ESPE2015

Whole-Body Vibration Training Improves Physical Function and Increases Bone and Muscle Mass in Youngsters with Mild Cerebral Palsy

Gusso Silmara , Colle Patricia , Derraik Jose G B , Biggs Janene , Munns Craig , Cutfield Wayne , Hofman Paul

Background: Adolescents with cerebral palsy (CP) have decreased muscle mass resulting in impaired mobility and osteopenia. There is a void in therapeutic interventions aimed at increasing muscle mass, muscle function as well as osteopoenia in this population. Whole body vibration training (WBVT) has the potential to fill this therapeutic void by maintaining/increasing muscle mass and bone mineral accrual during growth.Objective and hypotheses: We aimed t...

hrp0084p2-309 | DSD | ESPE2015

Alterations in Germ Cell Memory and Mini-Puberty Induce Infertility in Cryptorchidism

Hadziselimovic Faruk , Docampo-Garcia Maria-Jose , Hadziselimovic Nils , Kray Gunthild , Demougin Philipp

Background: Spermatogonia contain processing bodies (P-bodies) that harbour P-element induced wimpy testis (Piwi) proteins associated specifically with Piwi-interacting RNAs to silence transposable DNA elements. In mice loss-of-function mutations in the Piwi pathway lead to de-repression of transposable elements, resulting in male-specific sterility.Objective and hypotheses: No previous studies have examined expression of transposons silencing gene micro...

hrp0084p2-355 | Fat | ESPE2015

Berardinelli Seip Congenital Lipodystrophy: A Light of Hope

del Campo Maria Ruiz , Moreno Isabel Saenz , Gonzalez Jose Julian Revorio , Araujo-Vilar David

Background: The lipodystrophy syndromes are a heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue (lipoatrophy). Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalised lipodystrophy since birth, insulin resistance, and dyslipemia since early infancy.Case presentation: We report a 6-year-old girl who arrived from Pakistan with...

hrp0084p2-408 | GH & IGF | ESPE2015

Does Skeletal Disproportion in Children with Idiopathic Short Stature Influence Response to GH Therapy?

Cutfield Wayne S , Lindberg Anders , Hofman Paul , Derraik Jose , Geffner Mitchell E , Camacho-Hubner Cecilia

Background: Children with ISS have an array of causes that lead to short stature and/or poor growth velocity. Genetic causes of short stature, notably SHOX mutations, can be associated with subtle skeletal disproportion with shorter limbs, manifesting as increased sitting-to-standing height ratios or SDS.Objective and hypothesis: Children with ISS and skeletal disproportions have a diminished growth response to GH treatment compared to chi...

hrp0084p2-570 | Thyroid | ESPE2015

Goitrous Hypothyroidism of Pubertal Onset Caused by a Novel Mutation in DEHAL1 Gene

Schulz Esther , Iglesias Ainhoa , Akkurt Halit Ilker , Helmke Knut , Moreno Jose Carlos

Background: Iodotyrosine deiodinase (DEHAL1) is a thyroidal enzyme that deiodinates mono- and diiodtyrosines (MIT, DIT) and recycles iodine, essential for synthesis of thyroid hormone. Iodotyrosine deiodinase deficiency leads to hypothyroidism, goiter and variable mental retardation. The age for clinical onset was reportedly very diverse, allegedly related to individual iodine nutrition.Clinical case: We report on a boy, offspring of consanguineous paren...

hrp0084p3-658 | Bone | ESPE2015

Vitamin Levels in Pregnant Women and in Cord Blood in Newborn in Our Area – Preliminary Results

del Campo Maria Ruiz , del Prado Yolanda Ruiz , Chocarro Yoana Yerro , Gonzalez Jose Julian Revorio

Background: There is increasing interest in vitamin D nutrition during pregnancy because of widespread reports of a high prevalence of low vitamin D status in pregnant women in high-latitude areas. It has been related to adverse events in mother and child. Neonates present a greater risk of hypocalcaemia, rickets and a higher incidence of infections during the 1st year of life.Objective and hypotheses: Real situation of pregnant women and newborn in rela...

hrp0094p2-489 | Thyroid | ESPE2021

Thyrotropic cell hyperplasia secondary to prolonged uncontrolled primary hypothyroidism

Ariza Jimenez Ana Belen , Ariza Jimenez Jose Antonio , Vargas Elena Lopez

Introduction: Prolonged evolution of an untreated hypothyroidism can lead to thyrotropic cell hyperplasia, which could be indistinguishable from a pituitary macroadnoma on resonance. Differential diagnosis is very important since it allows to avoid aggressive therapeutic behaviors.Case report: We show a 3-year-old girl who, in the context of a study due to psychomotor retardation, borderline head circumference and coarse features, presented in magnetic r...

hrp0097p1-222 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Height evaluation in a group of patients with Prader Willi syndrome after 3 years of treatment with growth hormone

Lara Emma , Castel Molineli Ana , Pintado Mónica , Luis Ruibal Jose

Introduction: Prader–Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. Clinical picture of PWS changes across life stages. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism, and complex behavioural and intellectual difficulties. The recombinant human growt...