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Karyotype with standard Giemsa-trypsin GTG banding analysis of the proband's prepared lymphocytes culture technique revealed 46, XY in a phenotypic female.

Karyotype with standard Giemsa-trypsin GTG banding analysis of the proband's prepared lymphocytes culture technique revealed 46, XY in a phenotypic female.

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Disorders of sex development (DSD) are congenital conditions, which carried a typical or abnormal development of chromosomal, gonadal, or anatomical sex. The definitive diagnosis of DSD relies on clinical examinations, hormonal studies, gonadal histology, chromosome (karyotype) analysis, and genetic testing. 46, XX testicular disorder of sex develo...

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XX or XY pure gonadal dysgenesis (PGD) is defined by premature destruction of the fetal gonads which reduce to an undifferentiated stroma with absence of germ line and endocrine secretion. The phenotype is unambiguously female with a clinical picture associating primary amenorrhea and impuberty. We present in this article a clinical case illustrati...