ESPE Abstracts

ESPE Abstracts

Published by BioScientifica

Page 1 of about 2 results

hrp0086rfc14.4 | Growth : Mechanisms | ESPE2016

Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel

Nakaguma Marilena , de Lima Jorge Alexander Augusto , de Assis Funari Mariana Ferreira , Lerario Antonio Marcondes , de Azevedo Correa Fernanda , de Carvalho Luciani Renata Silveira , de Mendonca Berenice Bilharinho , Arnhold Ivo Jorge Prado

Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling1.Objective: To prospectively conduct a molecular-genetic analysis in genes associated with IGHD or CPHD.Method: Forty patients with IGHD (n=8) or CPHD (n=32) were stu...
0 shares

hrp0092p1-135 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Combining Clinical and Genetic Approaches in Diagnosing a Large Brazilian Cohort of Patients with 46,XY Differences of Sex Development (DSD)

Gomes Nathalia Lisboa , Batista Rafael Loch , Nishi Mirian Y , Marcondes Antonio , Silva Tatiane E. , Funari Mariana , Faria Júnior José Antônio Diniz , Silva Daniela Moraes , Montenegro Luciana , Frade Costa Elaine Maria , Jorge Alexander Augusto , Domenice Sorahia , Mendonca Berenice Bilharinho

Background: Most published studies on 46,XY DSD focused on genetic findings without association with biochemical work-up.Objectives: To retrospectively analyze the clinical and genetic findings of a large cohort of 46,XY DSD patients.Methods: 285 non-syndromic 46,XY DSD individuals (192 sporadic and 89 familial cases) were studied. LH, FSH, testosterone (T), androstenedione (A) wer...
0 shares

Published by BioScientifica

ESPE Abstracts

© Bioscientifica 2024 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more