Genital Ambiguity
Mostrando 1-11 de 11 artigos, teses e dissertações.
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1. 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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2. 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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3. Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an infertility service
PURPOSE: To determine the frequency of genetic alterations in a population of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia. MATERIALS AND METHODS: Retrospective study of a group of 143 infertile men with severe oligozoospermia or non-obstructive azoospermia from the Andrology Outpatient Clinic of the Human Reproduction S
International braz j urol. Publicado em: 2011-04
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4. 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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5. Evolução a longo prazo da cirurgia de masculinização da genitália ambígua em pacientes com distúrbios do desenvolvimento sexual / Long-term surgical outcome of masculinizing genitoplasty in a large cohort of patients with disorders of sex development
Purpose: To evaluate the results of masculinizing genitoplasty with the Denis Browne technique performed in a large cohort of patients with disorders of sex development (DSD) treated at a single tertiary centre. Patients and Methods: We evaluated 65 patients (57 with 46,XY DSD and 8 with 46,XX DSD) with proximal hypospadias and genital ambiguity. Cosmetic re
Publicado em: 2009
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6. Intersexo e Identidade: História de um corpo reconstruído / Intersex and identity : history of a reconstructed body
Intersex and identity: history of a reconstructed body is a Social Psychology study on the issue of the intersex identity and focuses on the process of reconstruction of self of a individual that had collated with situations that implied in the revision of its individuality, social identity and conscience of itself . Its hypothesis is of that the fight of th
Publicado em: 2007
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7. 5 alfa - reductase type 2 deficency : importance of hormonal evaluation in the diagnosis, including anti-mullerian hormone levels / Deficiencia da 5 alfa - redutase tipo 2 : importancia da avaliação hormonal no diagnostico, incluindo dosagem do hormonio anti-mulleriano
The clinical features of 5a-reductase 2 deficiency patients are hardly distinguishable from those of the other causes of pseudohennaphroditism, especially androgen insensitivity syndromes; the diagnosis becomes even more difficult when family history is unremarkable and there are no clues to a pattem of inheritance. The aim of this study was to eValuatethe h
Publicado em: 2005
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8. Genitoplastia feminizante em meninas portadoras de hiperplasia congenita das supra-renais : aspectos tecnicos e analise dos resultados anatomicos
The aim of this study was to evaluate the anatomical and cosmetic results of the feminizing genitoplasty in girls with ambiguous genitalia. METHODOLOGY: The present series consists of twenty-seven females with genital ambiguity (Prader III?V), due to HCSR, who underwent one stage feminizing genitoplasty and were followed for a median time of four years. In t
Publicado em: 2003
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9. Avaliação funcional das celulas de Leydig e de Sertoli em 24 casos de ambiguidade genital com cariotipo 46,XY
The investigation of the origin of sex ambiguity is a very complex matter. Sex differentiation is dependent upon the action of two testicular hormones: testosterone and anti-Müllerian hormone (AMH). Although testicular function has traditionally been assessed only by examining the steroidogenic capacity of Leydig cells and spermatogenesis, it has recently b
Publicado em: 1999
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10. Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome.
The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be
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11. Antagonism of WT1 activity by protein self-association.
Germline loss-of-function mutations at the Wilms tumor (WT) suppressor locus WT1 are associated with a predisposition to WTs and mild genital system anomalies. In contrast, germ-line missense mutations within the WT1 gene encoding the DNA-binding domain often yield a more severe phenotype consisting of WT, sexual ambiguity, and renal nephropathy. In this rep