ESPE Abstracts

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...

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...

Neonatal screening tests are used for the screening of genetic, endocrine and metabolic diseases. Preterm newborns have a higher false-positive and false-negative results in neonatal screening. The objective of this study was to estimate the prevalence of false-positive and false-negative results in the neonatal screening tests for phenylketonuria, congenital hypothyroidism, biotinidase deficiency and congenital adrenal hyperplasia (CAH) in preterm newborns in Curitiba, to ana...

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...

Introduction: X-linked hypophosphatemic rickets (XLH) is characterized by a mineralization disorder in the growth plate and cortical and trabecular bones, resulting in bone deformities with anthropometric changes and potential alterations in body composition.Objective: To evaluate the body composition of 12 children and adolescents with XLH compared to healthy controls by anthropometric and densitometry data.<p class...

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...

Background: Mixed gonadal dysgenesis (MGD) is a heterogeneous group of gonadal, chromosomal and phenotypic abnormalities. The diagnosis is based on the presence of testicular tissue and streak.Objective and hypotheses: Casuistics description of patients with MGD in our hospital.Method: A retrospective analysis of medical records.Results: We studied 15 patients. The age at first visit ranged from two weeks to ...

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...

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...

Introduction: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance is frequently low in several tissues, including blood cells. The emergence of next-generation sequencing (NGS) methodologies has allowed the analysis of millions of DNA fragments simultaneously and independently, enabling detection of low mutation abundance. Aim: To es...