46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis
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چکیده
منابع مشابه
46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis.
The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD). One case was reported including clinical and laboratory findings of a child of 41-day-old infan...
متن کاملXY and 45 , X / 46 , XY testicular dysgenesis : similar gonadal and genital phenotype , different prognosis
1 Curso de Pós-Graduação em Saúde da Criança e do Adolescente, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM/ Unicamp), Campinas, SP, Brasil 2 Grupo Interdisciplinar de Estudos da Determinação e Diferenciação do Sexo (GIEDDS), FCM/ Unicamp, Campinas, SP, Brasil 3 Departamento de Pediatria, FCM/ Unicamp, Campinas, SP, Brasil 4 Departamento de Genética Médica, FCM/Unicamp,...
متن کاملGonadal dysgenesis
Disorders of sex development (DSD), previously referred to as intersex disorders, comprise a variety of congenital diseases with anomalies of the sex chromosome, the gonads, the reproductive ducts and the genitalia. DSD is loosely classified into four groups on the basis of histological features of the gonadal tissue: XX-DSD with two ovaries (female pseudohermaphroditism), XY-DSD with two testi...
متن کاملFamilial XY gonadal dysgenesis.
Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965). The term 'XY gonadal dysgenesis' refers to patients with pure gonadal dy...
متن کاملX/XYq - mosaicism and mixed gonadal dysgenesis.
A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length. Evidence for translocation of the Y fluorescent segment to another chromosome was lacking in the ...
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ژورنال
عنوان ژورنال: Arquivos Brasileiros de Endocrinologia & Metabologia
سال: 2010
ISSN: 0004-2730
DOI: 10.1590/s0004-27302010000300013