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De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis
(1999)
A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication ...
De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis
(1999)
A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication ...
A importância da análise histológica morfométrica gonadal na identificação da gônada disgenéticaGonadal dysgenesis and morphometric histologic analysis
(Sociedade Brasileira de Endocrinologia e Metabologia, 2003)
Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesisNova mutação 3'UTR+11insT no gene DMRT1 associada à disgenesia gonadal parcial XY
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010)
Biomarkers of male hypogonadism in childhood and adolescence
(De Gruyter, 2020-04)
Objectives: The objective of this review was to characterize the use of biomarkers of male hypogonadism in childhood and adolescence. Contents: The hypothalamic-pituitary-gonadal (HPG) axis is active during fetal life and ...
Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma
(Biological Systems, 2015-02)
Deletion of the short arm of chromosome 9 is associated with two distinct clinical prototypes. Small telomeric distal 9p deletions have been reported in patients 46,XY with gonadal dysgenesis, this region contains genes ...