[Genotypic sex and phenotypic sex: clinical, biochemical and molecular aspects in a patient with male hypogonadism and 46XX-45XO karyotype].

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Article

[Genotypic sex and phenotypic sex: clinical, biochemical and molecular aspects in a patient with male hypogonadism and 46XX-45XO karyotype].

Recenti progressi in medicina - 1 Dec 2001

Torre R, Savino A, Venturi P, Taverna R, Triacca R, Coli A, Bernasconi D, Del Monte P, Marugo M

Abstract excerpt

We report here the case of a patient with primary male ipogonadism, with small testes and deficient virilization of the external genitalia, but with 46XX, 45X0 karyotype. Hormonal determinations showed high LH and FSH and low testosterone levels. Ultrasonography confirmed the presence of small testes within the scrotum. Cytogenetic analysis demonstrated a female karyotype, with 90% 46XX, 10% 45X0 mosaicism. Using...

Topics

Aged
Genotype
Gonadal Dysgenesis, 46,XX
Humans
Hypogonadism
In Situ Hybridization, Fluorescence
Karyotyping
Male
Mosaicism
Phenotype
Turner Syndrome

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Open in PubMed

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PMID: 11822095

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