Androgen Insensitivity Syndrome
Mostrando 1-12 de 30 artigos, teses e dissertações.
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1. Total corpora mobilization for penile reconstruction
ABSTRACT Purpose: Total corpora mobilization (TCM) is a novel technique that is used for penile reconstruction in cases of micropenis and penile amputation. Its principle is based on Kelly’s procedure for bladder exstrophy (1). In contrast to the Kelly procedure, TCM is performed entirely through the perineum with the patient in the lithotomy position. M
International braz j urol. Publicado em: 2022
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2. Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion: a case-control study
Abstract BACKGROUND: Because normal male sexual differentiation is more complex than normal female sexual differentiation, there are more cases of disorders of sex development (DSDs) with 46,XY karyotype that have unclear etiology. However, Leydig and Sertoli cell markers are rarely used in distinguishing such individuals. OBJECTIVES: To evaluate the funct
Sao Paulo Medical Journal. Publicado em: 2022
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3. Androgen insensitivity syndrome: a review
ABSTRACT Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8
Arch. Endocrinol. Metab.. Publicado em: 2018-03
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4. Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center
ABSTRACT The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of su
Int. braz j urol.. Publicado em: 2015-10
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5. Umbilical KeyPort bilateral laparoscopic orchiectomy in patient with complete androgen insensitivity syndrome
MAIN FINDINGS: A 22-year-old woman with complete androgen insensitivity syndrome (CAIS) presenting with primary amenorrhea and normal female external genitalia was referred for laparoscopic gonadectomy. She had been diagnosed several years earlier but was reluctant to undergo surgery. CASE HYPOTHESIS: Diagnosis of this X-linked recessive inherited syndrome c
Int. braz j urol.. Publicado em: 2012-10
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6. Surgical and functional outcomes of sigmoid vaginoplasty among patients with variants of disorders of sex development
PURPOSE:To assess the use of sigmoid colon in vaginal reconstruction of some patients with disorders of sex development. MATERIALS AND METHODS: The study included 31 patients with disorders of sex development of various causes. All were reared as females. Female gender was decided for all cases after complete medical assessment. All patients underwent sigmoi
International braz j urol. Publicado em: 2012-06
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7. Analise molecular do gene do receptor de androgenos em pacientes 46, XY com ambiguidade genital e produção normal de testosterona / Molecular analysis of the androgen receptor gene in patient 46, XY presenting genital ambiguity and normal testosterone production
Considera-se que insensibilidade androgênica seja a causa mais freqüente dos distúrbios da diferenciação do sexo em pacientes com cariótipo 46,XY. Trata-se de uma anomalia recessiva ligada ao cromossomo X, que pode se manifestar de forma branda, parcial ou completa, com um amplo espectro de variação fenotípica. O gene do receptor de andrógenos (AR)
Publicado em: 2010
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8. Análise de Alterações no Gene Receptor de Andrógeno em homens com infertilidade idiopática / Analysis of changes in the androgen receptor gene in Men with idiopathic infertility
A infertilidade masculina idiopática está relacionada a defeitos na espermatogênese normal, devido a causas genéticas. A espermatogênese é um processo dependente de altos níveis de hormônios sexuais masculinos, os andrógenos. E os andrógenos, por sua vez, exercem sua função quando associados ao receptor androgênico (RA), proteína codificada pel
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 31/03/2009
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9. Análise de Alterações no Gene Receptor de Andrógeno em homens com infertilidade idiopática / Analysis of changes in the androgen receptor gene in Men with idiopathic infertility
Male idiopathic infertility is related to defects in normal spermatogenesis, due to genetic causes. The spermatogenesis is a dependent process on high levels of male sex hormones, the androgens. The androgen, in turn, perform its function when associated with the androgen receptor (AR), protein encoded by AR gene. Mutation in AR gene lead to a synthesis of n
Publicado em: 2009
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10. Ánálise de alterações no gene receptor de andrógeno em homens com infertilidade idiopática / Analysis of changes in the androgen receptor gene in men with idiopathic infertility
A infertilidade masculina idiopática está relacionada a defeitos na espermatogênese normal, devido a causas genéticas. A espermatogênese é um processo dependente de altos níveis de hormônios sexuais masculinos, os andrógenos. E os andrógenos, por sua vez, exercem sua função quando associados ao receptor androgênico (RA), proteína codificada pel
Publicado em: 2009
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11. Implicações psicologicas da (in)fertilidade em mulheres com fenotipo feminino e genotipo discordante
The present study was aimed at assessing the psychological characteristics and experiences of individuals with sex differentiation disorders, represented by phenotypic females with a 46,XY karyotype. Eight participants were selected, ages ranging from 22 to 44 years, who presented primary amenorrhea and sterility, lack of development of secondary sexual char
Publicado em: 2006
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12. Insensibilidade completa aos andrógenos em pacientes brasileiras causada pela mutação P766A no gene do receptor androgênico
A síndrome de insensibilidade aos andrógenos é uma doença rara ligada ao X, causada por mutações no gene do receptor androgênico (AR), associada a uma variedade de fenótipos em indivíduos 46,XY. Avaliamos duas irmãs gêmeas de 23 anos com sexo social feminino encaminhadas por amenorréia primária, e que apresentavam gônadas palpáveis na região
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2005-02