hrp0086fc6.4 | Syndromes: Mechanisms and Management | ESPE2016

Chromosome 14 Imprinted Region DLK1/GTL2 Disruption: An Alternative Molecular Etiology for Silver-Russell Syndrome

Geoffron Sophie , Habib Walid Abi , Canton Ana , Brioude Frederic , Netchine Irene

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder, which remains a clinical diagnosis. The Netchine-Harbison clinical scoring system (NH-CSS), recently adopted by the first international consensus on SRS, defines SRS with at least 4 of the 6 following criteria: born SGA, postnatal growth retardation, relative macrocephaly at birth, prominent forehead, body asymmetry and early feeding difficulties. It is related to 11p15 ICR1 loss ...

hrp0086fc6.5 | Syndromes: Mechanisms and Management | ESPE2016

Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown Etiology

Canton Ana , Homma Thais , Furuya Tatiane , Roela Rosimeire , Arnhold Ivo , Jorge Alexander

Background: The etiology of short stature is heterogeneous, often encompassing complex genetic disorders of difficult diagnosis. Analysis of chromosomic copy number variants (CNVs) has been demonstrating the important role of these genomic imbalances in population diversity and human disease.Objective and hypotheses: To analyze the frequency and describe novel submicroscopic chromosomal CNVs in a group of patients with short stature of unknown cause....

hrp0086rfc7.8 | Gonads & DSD | ESPE2016

Premature Adrenarche in Girls at Pubertal Onset is Associated with High Androgens, but Lower AMH Concentrations

Merino Paulina M , Pereira Ana , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with increase androgen levels and PCOS have arisen.Objective: To determine whether PA in children at pubertal onset (TII) determines a different timing of pubertal events and a different pattern of ovarian and adrenal hormones.Methods: A total of 583 girls from the longitudinal cohort (Growth and Obesity Cohort Study, born 2002) wer...

hrp0086p1-p457 | Fat Metabolism and Obesity P1 | ESPE2016

Premature Adrenarche and Metabolic Risk: Differences by Gender

Pereira Ana , Merino Paulina M. , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with an increased metabolic risk have arisen. This risk may depend on ethnic background and infancy weight gain, which could be different by gender.Objective and hypotheses: To determine whether PA in children at pubertal onset (TII) determines a higher metabolic profile.Methods: 1190 children (49.9% female) from the longitudinal co...

hrp0086p2-p589 | Perinatal Endocrinology P2 | ESPE2016

Severe Systemic Pseudohypoaldosteronism Type 1: 5 Years of Evolution

Miguel Gomes Maria , Baptista Vera , Martins Sofia , Marques Olinda , Antunes Ana

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare syndrome characterized by unresponsiveness or resistance to the action of aldosterone. It manifests with persistent salt loss, resulting in hyponatremia, hyperkalemia and metabolic acidosis. High levels of aldosterone and renin activity, confirms the diagnosis. When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease. Often occurs in the neonatal period and presents with recurrent ...

hrp0086p2-p677 | Growth P2 | ESPE2016

LHX-4 Gene Mutation in a Boy with Hypopituitarism and Severe Congenital Myopathy

Gucev Zoran , Tasic Velibor , Plasevska-Karanfilska Dijana , Stamatova Ana , Laban Nevenka , Polenakovic Momir

Background: LHX4 mutations are rare in combined pituitary hormone deficiency, and even rarer in isolated GHD.Objective and hypotheses: We describe a 14 years old boy who was referred for investigation of short stature.Methods and Results: Short stature, convergent strabismus, nystagmus was present. At the age of 5 years his gait was unstable. A progressive myopathy ensued. Tests of pituitary reserve showed partial IGHD (8....

hrp0082p1-d1-207 | Reproduction | ESPE2014

Analysis of the WDR11 Gene in Patients with Isolated Hypogonadotropic Hypogonadism with and without Olfactory Defects

Silveira Leticia FG , Montenegro Luciana R , Costa Elaine MF , Latronico Ana C

Background: The WDR11 gene was recently involved in the pathogenesis of isolated hypogonadotropic hypogonadism (IHH). In 2010, Kim et al. (1) identified five different heterozygous missense WDR11 rare variants in six of 201 IHH patients (five normosmic IHH and one Kallmann syndrome), which were absent in more than 400 controls. Animal studies demonstrated that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfacto...

hrp0082p2-d1-261 | Adrenals & HP Axis | ESPE2014

Paradoxical Increase in Urinay Cortisol Excretion in Children with Primary Pigmented Nodular Adrenal Disease

Fraga Ana Beatriz , Anselmo Joao , Franco Catarina , Vaz Sara , Gomes Fernanda

Background: Pediatric Cushings syndrome is a rare condition and its diagnosis is always a challenge to the clinicians. The hypercortisolism can be classified as ACTH-dependent (Cushings disease) and ACTH-independent. The latter group comprises several hereditary conditions. One of them is primary pigmented nodular adrenocortical disease (PPNAD) which occurs isolated or as part of Carney complex (CNC). It is known that adult patients with Cushings syndrome due PPNAD exhibited a...

hrp0082p2-d1-584 | Thyroid | ESPE2014

Treatment of Pediatric Graves’ Disease: Results of a Multicenter Survey in Portugal

Marques Olinda , Joao Oliveira Maria , Antunes Antunes Ana , Espada Filipa , Guimaraes Joana

Background: In 2011, ATA and AACE published Guidelines on pediatric Graves’ disease (GD) treatment. Nevertheless it is still a controversy.Objective and hypotheses: SPEDP conducted the first nationwide questionnaire survey among all the Endocrinologists and Pediatricians in the Portuguese Public Health System Hospitals about pediatric GD treatment in order to know the reality in our country.Method: SPEDP designed and distribut...

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...