hrp0082p2-d2-473 | Growth (1) | ESPE2014

GH Deficiency in a Child With De Novo 2q31.1 Microdeletion

Kaloumenou Irene , Karachaliou Feneli , Vlachopapadopoulou Elpis-Athina , Fotinou Aspasia , Michalacos Stefanos

Background: The clinical phenotype of the chromosome 2q31 deletion syndrome consists of a variety of limb abnormalities and other skeletal defects, craniofacial dysmorhic features, developmental delay, and other not specific congenital anomalies.Objective and hypotheses: To describe a patient with 2q31.1 microdeletion syndrome and short stature, diagnosed with GH deficiency.Method: We describe a 5 years and 4 months girl with devel...

hrp0084p1-160 | Miscelleaneous | ESPE2015

Septo-Optic Dysplasia Associated with Koolen-de Vries Syndrome: A Case Report

Aroyo Ani , Stoeva Iva , Stancheva Gergana , Koleva Reni , Kaneva Radka

Background: Septo-optic dysplasia (SOD) is a rare congenital anomaly, clinically heterogeneous, combining optic nerve and pituitary gland hypoplasia, midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis is made when two or more features of the classic triad are present. HESX1, SOX2, SOX3, FGF8, FGFR1, PROKR1, SHH, are implicated in the etiology of SOD.Objective and hypotheses: Description of a ...

hrp0086p2-p848 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth of Children Born Preterm During the First 8 Years of Life

Cardoso-Demartini Adriane , da Silva Regina Cavalcante , de Lara Francisca , Boguszewski Margaret

Background: Approximately 15 million children are born preterm worldwide yearly.Objective and hypotheses: To evaluate spontaneous growth during the first 8 years of life.Hypotheses: Preterm born children have spontaneous recovery of weight and height in the first 8 years of life.Method: Measurements at birth, 6, 12 and 24 months of corrected age and at recall [6.4±0.5 years (5.2–8.0)]. Weight, lengt...

hrp0097p1-407 | Adrenals and HPA Axis | ESPE2023

17OHP levels to diagnose Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency (NC-CAH) in children with precocious pubarche

Chagas Nathália , Aragon Davi , Mermejo Livia , de Castro Margaret , Moreira Ayrton , Antonini Sonir

Background: Basal 17OHP levels to indicate an ACTH-stimulation test and post-ACTH 17OHP cut-off levels diagnosing NC-CAH vary among different guidelines.Objective: To establish the performance of basal and post-ACTH 17OHP concentrations for the NC-CAH diagnosis in children with precocious pubarche (PP).Methods: Clinical, biochemical, and molecular analysis from 202 PP patients subm...

hrp0084p3-896 | Fat | ESPE2015

Prevalence of Excess Weight in Adolescents at Primary Health Care Units in South Brazil

Vargas Deisi Maria , de Medeiros Ana Carolina Santin , Klieman Elis , Eberhardt Isabel , Piesanti Vera Janete , Pasa Simone , da Silva Claudia Regina Lima Duarte , Coutinho Luciane Azevedo , Simao Vilma Margarete

Background: In the past decades Brazil has experienced a nutritional transition process characterised by a significant reduction in malnutrition and progressive increase in overweight and obesity. Nutritional education and precocious interventions are useful strategies to combat excess weight in childhood and adolescence. According to the World Health Organization (WHO), there were more than 40 million children overweight in the world in 2011. In Brazil, the prevalence of exce...

hrp0097p2-262 | Late Breaking | ESPE2023

A new case of Malan Syndrome with de novo NFIX sequence variants and a review of the literature

Leng Jie , Cheng Xinran

Background: We report clinical and molecular cytogenetic characterization of a 13-year-7-month-old boy with a Sotos-like phenotype and de novo NFIX deletions and review the literature.Result: A whole exome sequencing revealed in the present patient with unique clinical phenotypes a de novo frameshift mutation c.570-573delATCA (p.S191Ifs*19) in NFIX gene in 19p13.2.Discussion: The p...

hrp0086p1-p139 | Bone & Mineral Metabolism P1 | ESPE2016

Dental Effects of Intravenous Bisphosphonate When Administered in Early Infancy

Zacharin Margaret

Background: Osteogenesis imperfecta (OI) is characterized by abnormal bone development with low bone mass and increased bone fragility. Dominant mutations affect synthesis & structure of type 1pro-collagen. Recessive mutations affect post-translational processing or tracking of type 1 pro-collagen. OI may be associated with dentinogenesis imperfecta type 1, for both primary and permanent dentition, particularly primary, manifested as tooth discoloration, reduced enamel thi...

hrp0086p2-p388 | Gonads & DSD P2 | ESPE2016

Fertility Outcomes after Childhood Onset Hypothalamic Hypogonadism

Zacharin Margaret

Background: Childhood onset (CO) hypogonadotrophic hypogonadism (HH), congenital or acquired after midline tumours and their treatment, is reported to have significantly poorer outcomes, in terms of adult spermatogenesis induction and duration of treatment to conception, compared with HH of post pubertal onset. A mixed cohort (youngest aged 26 years) reported median time to conception of 28 months.1 Use of hCG and FSH in adolescence is reported to result in spermato...

hrp0086p2-p577 | Perinatal Endocrinology P2 | ESPE2016

Endocrinologists Have A Role in Moderating Adverse Metabolic Consequences of Early Over Feeding of Children Born IUGR

Zacharin Margaret

Background: Intra uterine growth retardation (IUGR) is well recognized to result in infants born small for gestational age (SGA). Early morbidity is followed by increased lifetime risks for health problems, particularly in the 10% of IUGR infants who fail to catch up. Risks include metabolic syndrome with obesity, insulin resistance, abnormal glucose metabolism, hypertension, dyslipidaemia, T2DM. Rapid weight gain in infancy is associated with increased incidence of later obes...

hrp0086p2-p762 | Pituitary and Neuroendocrinology P2 | ESPE2016

Recovery of Hypothalamic Pituitary Function After Stalk Transection and Panhypopituitarism in an Adolescent

Zacharin Margaret

A 12 year old boy sustained a severe head injury by a passing car whilst crossing the road. Injuries were confined to massive basal skull fracture, right sided blindness, acute onset diabetes insipidus, extradural and subdural bleeding requiring surgical decompression. Pre-operative physical examination revealed a healthy looking boy, height 60th centile for age, Tanner stage III puberty, 10 ml testes bilaterally. MR head demonstrated apparent pituitary stalk transection and r...