hrp0084p1-110 | Perinatal | ESPE2015

Neonatal Screening Program for Central Congenital Hypothyroidism

Braslavsky Debora , Prieto Laura , Keselman Ana , de Papendieck Laura Gruneiro , Enacan Rosa , Mendez Virginia , Bergada Ignacio , Chiesa Ana

Background: Congenital hypothyroidism (CH) comprises a heterogeneous group of disorders that includes diseases of the hypothalamo-hypophyseal system. The latter are missed on TSH based screening programs leading to increased morbidity and mortality. Additional T4 determinations, allows an early detection of CH of central origin (CH-C).Objective and hypotheses: To report the findings of a neonatal screening program based on determination of TSH...

hrp0084p2-470 | Growth | ESPE2015

Hypomethylation within the Imprinted Dlk1 - Dio3 Domain: a Potential Regulatory Mechanism of Pre and Postnatal Growth

Prats-Puig Anna , Carreras-Badosa Gemma , Bassols Judit , Cavelier Patricia , Magret Agnes , Sabench Cristina , Zegher Francis de , Ibanez Lourdes , Feil Robert , Lopez-Bermejo Abel

Background: Genomic imprinting causes genes to be expressed or repressed depending on their parental origin. The 1-Mb DLK1-DIO3 imprinted domain is located on human chromosome 14. Gene expression along this cluster is regulated by an intergenic differentially methylated imprinting control region (‘IG-DMR’). In mice, altered gene dosage within this cluster is associated with alterations in embryonic and placental growth.Objective and hy...

hrp0084p2-483 | Growth | ESPE2015

Hypermethylation at the Imprinted C19mc Microrna Cluster: A New Link between Maternal Metabolism and Infant’s Growth

Prats-Puig Anna , Carreras-Badosa Gemma , Bassols Judit , Girardot Michael , Carrion Empar , Gehmis Radu , Zegher Francis de , Ibanez Lourdes , Feil Robert , Lopez-Bermejo Abel

Background: Maternal obesity can have long-term consequences for the offspring’s health, including increased risk of type-2 diabetes and cardiovascular disease. The C19MC imprinted locus on chromosome 19q13.4 comprises a cluster of 46 microRNAs, which are usually expressed only in the placenta and from the paternal allele exclusively. Besides its role favouring trophoblast migration, the C19MC locus is deregulated in several human cancers. It is unknown ...

hrp0084fc12.2 | Obesity - Clinical | ESPE2015

Soluble CD163, A Circulating Marker of Macrophage Activation, Associates With a Less Favourable Metabolic Profile in Children

Carreras-Badosa Gemma , Prats-Puig Anna , Diaz-Roldan Ferran , Platero-Gutierrez Estibaliz , Martinez-Calcerrada Jose-Maria , Riera-Perez Elena , de Zegher Francis , Ibanez Lourdes , Bassols Judit , Lopez-Bermejo Abel

Background: Soluble CD163 (sCD163) is shed from the cell surface into the circulation as a specific marker of macrophage activation. Macrophages are involved in low-grade inflammatory states such as obesity.Objective and hypotheses: To investigate the relationships between circulating sCD163 and metabolic parameters in asymptomatic prepubertal children.Method: A population of 236 school-aged Caucasian children (111 girls and 125 bo...

hrp0095rfc10.4 | GH and IGFs | ESPE2022

Recombinant PAPP-A2 induces sex-specific increases in body weight and length and changes in bone microstructure in adolescent mice with longitudinal growth reduction induced by Pappa2 deletion

del Mar Fernández-Arjona María , Rubio Leticia , López-Gambero Antonio , Rivera Patricia , Vargas Antonio , Rodríguez de Fonseca Fernando , A. Chowen Julie , Argente Jesús , Suárez Juan

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease that regulates IGF-1 availability, causes postnatal growth failure and changes in bone size and density in humans and mice. The present study aimed to determine the effects of daily administration (from PND5 to PND35) of recombinant murine (rm) PAPP-A2, in comparison to rmGH and rmIGF1, on mouse auxology and bone microarchitecture in homozygous Pappa2 knock-out (ko/ko) mice of both sexes. Hormone treatm...

hrp0082p3-d2-898 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Marfan Neonatal Syndrome: a Case Report

Hawkins Magdalena , Alcalde Ana , Yebra Julia , Royo Maria , Perez-Seoane Beatriz , de la Serna Maria , Raga Teresa , Barrios Ana , Garcia-Minaur Sixto

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...

hrp0084p3-1039 | Growth | ESPE2015

Sotos Syndrome: Why is Better an Early Diagnosis?

Solis Maria Magdalena Hawkins , Gomez Maria Royo , de Alvare Ana Dolores Alcalde , Yebra Julia Yebra , Pose Araceli Garcia , Diaz Alfonso Canete

Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay. They can also present escoliosis, heart or genitourinary disease, seizures, hypotonia, cerebral malformations, feeding difficulties, hearing loss and a greater risk of tumours.Case report: A 10 months old girl was referred for overgrowth. BW and BL wa...

hrp0095p1-227 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Primary Hyperparathyroidism caused by a Mutation of the Vitamin D Receptor Gene

de Beldjenna Liliana Mejia de Beldjenna L

Objective: To present a patient with hypercalcemia caused by a parathyroid adenoma and a deletion of the VDR gene.Case clinic: The case is that of a 13-year-old male who presented with hypercalcemia, muscle weakness, nephrocalcinosis, two pathological fractures and a family history of nephrocalcinosis. Physical examination was unremarkable, except the presence of a fracture of the left femur. Laboratory findings: Total s...

hrp0094p2-438 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Congenital adrenal hyperplasia in detail: A multicentric and interdisciplinary study in minors with different sexual development

Ignacio Diez-Lopez , Nerea Gonzalez-Temprano , Villalon Flor , Larreina de la Fuente Leire , Cancela Vanesa , Nuñez Francisco Javier , Hernandez Jone Miren

Of the 67 included DSD patients, 33% were HSCs. 68% women and 32% men, with a total concordance between legal sex, current gender and chromosomal sex. Median age: 10.5 years, IQR 8-14. The most frequent clinical form was non-classical (NC) 45.5%, followed by classical with saline loss (CPS) 41%. The distribution of each clinical form according to the karyotype is significant (P = 0.013), the most frequent with XY karyotype is CPS and in NC forms all cases are XX. Med...

hrp0089wg1.3 | ESPE Disorders of Sex Development & Turner Syndrome Joint Session | ESPE2018

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism

De Groote Katya

The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Cardinal features of TS include reduced final height and infertility. Apart from endocrine, renal and neurocognitive disorders, structural heart defects are frequently present (in 25% to 50%), also in TS patients with mosaicism 45,X/46,XY. Males with 45,X/46,XY frequently show stigmata typically associated with TS but data on cardiovascular patholog...