Congenital Adrenal Hyperplasia
Mostrando 1-12 de 83 artigos, teses e dissertações.
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1. Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
ABSTRACT Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. Corporoplasty: A simplified technique for clitoroplasty
ABSTRACT Introduction Clitoroplasty constitutes an important step in feminizing surgery for congenital adrenal hyperplasia (CAH) ( 1 ). In this video we present a technique that aims to preserve clitoral sensitivity and engorgement while minimizing the risk of neurovascular lesion. Materials and methods We present a video of a three-year-old girl with hi
International braz j urol. Publicado em: 2022
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3. Complete corporeal preservation clitoroplasty: new insights into feminizing genitoplasty
ABSTRACT Introduction: 46,XX Congenital adrenal hyperplasia (CAH) remains the first cause of genital virilization and current surgical techniques aim to restore female aspect of genitalia while preserving dorsal neurovascular bundle but not at the expense of not preserving erectile tissue. We aim to report our experience with a new surgical technique for cl
Int. braz j urol.. Publicado em: 2021-08
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4. Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening
Abstract Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and Congenital Hearing Loss (CHL). Objetives: This study describe the epidemiological characteristics of newb
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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5. Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation,
Resumo Objetivo: Descrever os resultados obtidos em um programa de triagem neonatal após sua implementação e avaliar os perfis clínicos e moleculares de casos confirmados e suspeitos de hiperplasia adrenal congênita. Métodos: Foi feito um estudo transversal. Recém-nascidos com suspeita da doença devido aos altos níveis de 17-alfa-hidroxiprogestero
J. Pediatr. (Rio J.). Publicado em: 01/07/2019
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6. Newborn screening for congenital adrenal hyperplasia: beyond 17-hydroxyprogesterone concentrations,
J. Pediatr. (Rio J.). Publicado em: 01/07/2019
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7. SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba: An Overview of the First 30 Years
Abstract The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ultramicrovolumes. This technology permitted establishing large-scale newborn screening programs (NSPs) for
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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8. Teste do pezinho: condições materno-fetais que podem interferir no exame em recém-nascidos atendidos na unidade de terapia intensiva
RESUMO Objetivo: Descrever as características do teste do pezinho dos neonatos atendidos na unidade de terapia intensiva de um hospital universitário, bem como verificar se existiam condições maternas e fetais que pudessem interferir no resultado desse exame. Métodos: Estudo retrospectivo longitudinal de abordagem quantitativa que avaliou 240 prontuá
Rev. bras. ter. intensiva. Publicado em: 23/05/2019
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9. Cognitive functions in children with congenital adrenal hyperplasia
ABSTRACT Objective There is controversy regarding cognitive function in patients with congenital adrenal hyperplasia (CAH). This study is aimed at the assessment of cognitive functions in children with CAH, and their relation to hydrocortisone (HC) therapy and testosterone levels. Subjects and methods Thirty children with CAH due to 21 hydroxylase deficien
Arch. Endocrinol. Metab.. Publicado em: 25/04/2019
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10. Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
SUMMARY Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to second-degree cousins presented with severe short stature (h
Arch. Endocrinol. Metab.. Publicado em: 2017-12
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11. Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency
SUMMARY P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 type II (including 21-hydroxylase, 17α-hydroxylase 17,20 lyase and aromata
Arch. Endocrinol. Metab.. Publicado em: 10/10/2016
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12. Cardiovascular risk factors and increased carotid intima-media thickness in young patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ABSTRACT Objective Increased arterial intima-media thickness has been observed in adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). CAH has also been associated with obesity, insulin resistance, and hypertension. The aim of the present study was to compare youths with CAH with healthy, normal-weight individuals, ev
Arch. Endocrinol. Metab.. Publicado em: 2015-12