hrp0082p2-d3-614 | Turner Syndrome | ESPE2014

Aortic Dilation in a Large Cohort of Paediatric and Young Adult Patients with Turner Syndrome

Geniuk Nadia , Vaiani Elisa , Rizzi Ana , Guercio Gabriela , Warman Monica , Michelli Diego , Rivarola Marco , Belgorosky Alicia

Background: Aortic dilation (AD) occurs in Turner syndrome (TS) increasing the risk of aortic dissection at all ages. There are no current guidelines on what specific aortic diameter measurement should provoke concern in pediatric TS. Because of their small stature, an aortic size index (ASI) has been proposed to normalize the ascending aorta (AA) to body size in young adults’ with TS. However, a more reliable index has been also proposed: the ratio of vascular diameter t...

hrp0084p3-801 | DSD | ESPE2015

Pseudo-Precocious Puberty in Androgen Insensitivity Syndrome Secondary to a Prepubertal Oestrogen Producing Sertoli Cell Tumour

Warman Diana Monica , Berensztein Esperanza , Marino Roxana , Ramirez Pablo , Costanzo Mariana , Maceiras Mercedes , Rivarola Marco A , Belgorosky Alicia

Background: Androgen insensitivity syndrome (AIS) is an X-linked hereditary disease with AR gene loss-of-function mutations in 46,XY patients. They undergoes poor development of secondary sex characteristics, except for breast development at puberty. AIS patients are prone to develop germ cell cancer, even though with lower incidence than in dysgenetic gonads secondary to defects in organogenesis.Case presentation: We described a 3-years-old gir...

hrp0092p3-114 | Fat, Metabolism and Obesity | ESPE2019

Rare Case of Acquired Generalized Lipodystrophy in A 14-Year Old Patient

Cristina Patricia Dumitrescu , Monica Mailat

Background: Lipodystrophies are a group of rare disorders characterized by varying degrees of body fat loss. The metabolic abnormalities associated with lipodystrophy include insulin resistance, often leading to diabetes mellitus, hypertriglyceridemia that may be severe enough to cause acute pancreatitis and hepatic steatosis that may lead to cirrhosis.They can be either genetic or acquired, generalized or partial. Acquired generalized l...

hrp0089p1-p174 | Growth & Syndromes P1 | ESPE2018

Identification of ADAMTS6 as a Novel Candidate Gene for Idiopathic Short Stature with Advanced Bone Maturation

Warman Diana M , Ramirez Pablo , Marino Roxana , Garrido Natalia Perez , Touzon Maria Sol , Pentreath Matias Pujana , Mattone Maria Celeste , Rivarola Marco , Belgorosky Alicia

Aggrecan (ACAN) is the major proteoglycan in the articular cartilage, critical for the structure and function of growth plate cartilage.Case Report: 11-year-old (y) boy admitted at 1.8 y of chronological age (CA), due to poor growth rate Height (H): 76 cm (−2.75 SDS). Initial physical examination: mild dysmorphic features and prepubertal external genitalia (two scrotal testes, 1 cc volume each). Neurologic maturation was normal. Initial bo...

hrp0092p2-117 | Fat, Metabolism and Obesity | ESPE2019

Trends in Childhood Obesity, Underweight and Short Stature Among Urban School Children in Romania

Pop Raluca-Monica , Neagu Nicolae , Pascanu Ionela

Background: Childhood adolescence overweight and obesity are increasing in Romania, but limited information is available on their current trends.Aim: the current study aimed to analyze the trend in prevalence of weight disturbances and stunting in the past 5 years in school aged children from the Transylvania region in Romania.Material and Methods: Two cross-sectional data sets fro...

hrp0086p2-p846 | Syndromes: Mechanisms and Management P2 | ESPE2016

Should We Construct Specific Growth Charts for Ethnic Subgroups?

Pop Raluca-Monica , Pascanu Ionela Maria

Background: Romania has a 3.3% Rromanes population according to the latest census, but no specific growth charts for this ethnic minority. Current national protocol recommends using the Swiss growth charts developed in 1989. Specific growth charts exist for ethnic subgroups like Turks in Germany and the Netherlands.Objective and hypotheses: A comparison between a Rromanes and a Romanian group of children regarding weight and height disturbances’ pre...

hrp0082p3-d1-822 | Growth | ESPE2014

Auxological Evaluation of ‘Non-Identical Twins’

Pop Raluca-Monica , Pop Marian , Pascanu Ionela

Background: Multiple external influences have proved to be of importance in auxology. Sub-group analysis can identify specific factors involved in normal children development.Objective and hypotheses: The main objective of the study was to identify differences in development in children born the same day from different parents. Our hypothesis was that there are identifiable general factors that predict the growth of a child.Method:...

hrp0082p3-d2-856 | Growth (3) | ESPE2014

Anthropometric Evaluation of a Cohort of School-Aged Children: the Need for National Growth References in Romania

Pop Raluca-Monica , Pascanu Ionela , Pop Marian

Background: For children above 5 years of age no specific national growth charts are available in our country, the most widely used being the Swiss ones (Prader, 1989). Previous studies have shown significant differences between the various international standards available regarding. The incidence of growth disorders.Objective and hypotheses: Our aim was to compare the recommended growth reference with a new one based on a national representative sample...

hrp0086fc7.1 | Gonads & DSD | ESPE2016

Early Loss of Germ Cells in Testis of Androgen Insensitivity Syndrome Patients

Aliberti Paula , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Solari Alberto J. , Sciurano Roberta , Ponzio Roberto , Costanzo Mariana , Guercio Gabriela , Warman Diana M. , Mutti Maria L. Galluzzo , Lubieniecki Fabiana , Bailez Marcela , Rivarola Marco A. , Belgorosky Alicia , Berensztein Esperanza B.

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

hrp0089p2-p255 | Growth & Syndromes P2 | ESPE2018

Clinical and Cost-Effectiveness of GH Treatment for Children in Wales

Pop Raluca-Monica , Warner Justin T. , Gregory John W.

Background: GH treatment has been used for the last 30 years for children with short stature with varying individual responses.Objective: Analysis of final height SDS (standard deviation score) and the factors influencing it in children treated with growth hormone.Material and methods: Subjects across Wales who received GH treatment, part supervised by tertiary center staff and reached final height while on treatment, were identifi...