Disorders Of Sexual Differentiation
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. Linear and Nonlinear Heart Rate Variability Analysis in Gonadal Dysgenesis (Swyer Syndrome): A Case Report
Abstract Swyer syndrome is one of the disorders of sexual differentiation. Previous studies have demonstrated increased sympathetic activity with heart rate variability (HRV) analysis with decreasing estradiol levels. One patient presented a pure 46, XY gonadal dysgenesis with female phenotype. Cardiac autonomic modulation was assessed through HRV analysis w
Int. J. Cardiovasc. Sci.. Publicado em: 2021-08
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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. 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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5. Análise do gene MAMLD1(CXorf6) em pacientes com distúrbios do desenvolvimento sexual 46,XY de origem indeterminada / Analysis of the MAMLD1 (CXorf6) gene in patients with undetermined 46,XY disorders of sexual development
Introdução: O gene MAMLD1 tem sido relacionado à etiologia da hipospádia penoescrotal por ser fundamental para produção adequada de testosterona durante o período crítico do desenvolvimento sexual masculino. Até o momento, 3 mutações nonssense com perda de função foram identificadas em pacientes japoneses com hipospadia. Objetivo: Pesquisar a pr
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 30/08/2011
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6. Aspectos psicossociais e sexuais de pacientes com distúrbios do desenvolvimento sexual a longo prazo / Long term psychosocial and psychosexual aspects of patients with disorders of sex development
INTRODUÇÃO: Os pacientes com distúrbios do desenvolvimento sexual (DDS) constituem um desafio para os profissionais que se empenham no seu tratamento e acompanhamento. São raros os estudos na área psicológica com acompanhamento destes pacientes a longo prazo. Este estudo tem por objetivo avaliar os aspectos psicossociais e sexuais em relação ao diagn
Publicado em: 2011
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7. 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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8. 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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9. Avaliação molecular do gene WT1 em pacientes pre-puberes com disgenesia gonadal parcial
Male sex detennination in humans depends on the presence of one Y chromosome, which by SRY gene expression leads to the differentiation of the gonadal primordia into testes. Other genes are involved in male sex determination and differentiation, such as the WTl, that codes a "zinc finger" transcription factor essential to the gonadal and renal development in
Publicado em: 2004
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10. Genetic Interactions of the Androgen and Wnt/β-Catenin Pathways for the Masculinization of External Genitalia
In most mammals, the sexually dimorphic development of embryos is typically achieved by the differentiation of the external genitalia. Hence, the sexual distinction of mammalian newborns is based on the external genital structure. Although it was shown in the 1940s and 1950s that androgen from the testes establishes the male sexual characteristics, the invol
The Endocrine Society.
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11. The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1
In mammals, several genes including the Wilms tumor suppressor gene Wt1, the Lim homeobox gene Lhx9, and the gene encoding steroidogenic factor 1 (Sf1) have been implicated in the development of the indifferent gonad prior to sexual differentiation. Interactions among these genes have not yet been elucidated. Using biochemical and genetic experiments, we dem
Cold Spring Harbor Laboratory Press.