hrp0086p1-p610 | Growth P1 | ESPE2016

One Year Use of Anastrazole Improves the Predicted Adult Height of Male Adolescents with and without Associated GH Therapy

Pinto Renata Machado , Goncalves Macks Wendhell

Background: Estrogen is an essential regulator of bone maturation, growth plate fusion, and cessation of longitudinal growth. Aromatase inhibitors (AI) block the conversion of androgens to estrogens, and can be used to delay bone maturation in males.Objective and hypotheses: We sought to determine whether the blockage of estrogen biosynthesis due to the use of the AI Anastrazole increases the Predicted Adult Height (PAH) in boys with short stature.<p...

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...

hrp0089p3-p251 | Growth &amp; 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...

hrp0089p2-p263 | Growth &amp; 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...