hrp0092p3-14 | Adrenals and HPA Axis | ESPE2019

One Case Report of Uighur Girl with Cushing Syndrome

li wenjing , chen da , xiawudong adaleti

Objective: Through the diagnosis and treatment of Uighur girl with adrenocortical adenoma, who was complain of short stature, to prompt pediatric endocrinologists pay attention to hypercortisolism in the diagnosis and treatment of children with short stature.Methods: With the case report of hypercortisolism in a Uighur child, to introduce the diagnosis and treatment of adrenocortical adenoma, presenting the clinical char...

hrp0089p3-p251 | Growth & Syndromes P3 | ESPE2018

Mosaicism 47XXX/45X0, a Case Report

Pinto Renata Machado , Duarte Sabrina Sara Moreira , Cunha Damiana Miriam da Cruz e , Ribeiro Cristiano Luiz , Silva Claudio Carlos da , Cruz Aparecido Divino da , Cruz Alex Silva da

Background and Aims: Turner Syndrome (TS), 45X0, is the most common chromosomal pathology affecting females, occurring in 1:2500 to 1:5000 female infants. The typical phenotype includes short stature, gonadal dysgenesis leading to sexual infantilism, low-set ears, low rear hairlin, mamary hypertelorism, neck webbing, gothic palate, irregular rotation of the elbows, shield chest, shortening of the 4th metacarpal, low hairline, shortening of lower extremities, renal disorders a...

hrp0086p2-p881 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Structure of Genetically Determined Types of Short Stature in Uzbekistan According to Retrospective Analysis

Ibragimova N.Sh. , Dalimova D.A. , Mirkhaidarova M.

Background: Stunting in children is a heterogeneous state. Many endocrine, somatic, genetic and chromosomal diseases are accompanied by stunting. It can adversely affect indicators of the final height of the child; therefore timely diagnostics and treatment stunting is very important.Objective and hypotheses: To carry out a retrospective analysis of case histories of children and adolescents with genetically determined types of short stature who admitted...

hrp0089p2-p263 | Growth & Syndromes P2 | ESPE2018

Genetic Investigation of SHORT Stature: A Case Report of Complex Constitutive Rearrangement Involving Chromosome 15

Pinto Renata Machado , Minasi Lysa Bernardes , Pinto Irene Plaza , Silva Juliana Ferreira da , Cunha Damiana Mirian da Cruz , Ribeiro Cristiano Luiz , Silva Claudio Carlos da , Cruz Aparecido Divino da

Introduction: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Rearrangements affecting chromosome 15 are rare and affected patients show a variety of nonspecific features...

hrp0084p3-596 | Adrenals | ESPE2015

Transient Pseudohypoaldosteronism as a Complication of Infected Obstructive Uropathy in Infancy, a Case Series

Da Costa Alexandra Rodrigues , Glew Simon , Fonseka Geetha , Ismail Dunia

Background: Pseudohypoaldosteronism is a rare condition of renal or systemic resistance to aldosterone, divisible into separate clinical presentations, each with a distinct physiological and genetic basis. Transient pseudohypoaldosteronism is a secondary form, characterised by reduced glomerulofiltration rate. It has been described in infants with obstructive uropathy and urinary tract infections.Method: We present five cases, presenting in infancy with ...

hrp0086p1-p821 | Syndromes: Mechanisms and Management P1 | ESPE2016

Case Report of 48,xxyy Syndrome Associated to Father’s Radioactive Contamination During the Cesium Accident in Goiânia – Goiás, Brazil

Pinto Renata Machado , Cunha Damiana Mirian , Ribeiroi Cristiano Luiz , da Silva Claudio Carlos , da Cruz Aparecido Divino

Background: In total of 48,XXYY Syndrome occurs in 1:20.000–1:50.000 male births. It used to be considered as a variant of Klinefelter syndrome, but now it is considered as a distinct clinical and genetic entity with increased risks for congenital malformations, additional medical problems and more complex psychological and neurodevelopmental involvement. 48,XXYY Syndrome results from the fertilization of a normal female oocyte (Xm), with an aneuploid sperm (XpYpYp) produ...

hrp0092p2-196 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Klinefelter Syndrome Associated with Short Stature Due to Iatrogenic Cushing

Machado Pinto Renata , Barbosa Julio , Mendes Arthur , Steinmetz Lucas , Cunha Damiana , Divino Da Cruz Aparecido

Introduction: Klinefelter syndrome (KS) is a form of aneuploidy resulting from 2 or more X chromosomes in a male. The most common karyotype is 47, XXY. KS affects physical and intellectual development to varying degrees, commonly causing hypo-development of secondary sexual characters and high stature.Case Report: JLV, male, 3 year 1 month age, the first child of a young non-consanguineous couple, was referred to the ped...

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...

hrp0086p2-p874 | Syndromes: Mechanisms and Management P2 | ESPE2016

Transverse Myelitis in Turner Syndrome

Kopacek Cristiane , Vieira Stefania , Capelo Liana , Quadros Fernanda , Kieling Renata , Da Silva Cleber Alvares

Background: Transverse Myelitis (TM) is an auto-immune syndrome with neural injury to the spinal cord. The TM may be first clinical manifestation of Multiple Sclerosis (MS). It is known that Turner’s Syndrome (TS) is associated to the presence of autoimmune diseases.Case Report: A 15-year old female, began with manifestations of loss of strength on the lower limbs evolving rapidly with sensorial loss, tetraparesis and hemodynamic instability, requir...

hrp0086p1-p45 | Adrenal P1 | ESPE2016

Polymorphisms Analyze in Gene CYP21A2 Gene Associated with Congenital Adrenal Hyperplasia

Jorgens Prado Mayara , Maria Dornelles da Silva Claudia , Grandi Tarciana , Martins de Castro Simone , Kopacek Cristiane , Lucia Rosa Rossetti Maria

Congenital adrenal hyperplasia is an autosomal recessive inborn error of metabolism due to impaired activity of one enzyme required for cortisol biosynthesis. Steroid 21-hydroxylase (21OH) deficiency is the cause in more than 90% of the patients. The 21OH is encoded by the CYP21A2 gene located on the chromosome 6 in the region known as the RCCX module. Due to the high homology and tandem-repeat organization of the RCCX module, this region of the genome is subjected to...