RESUMO
In the present study, we report on the case of a 43-year-old male patient seeking for fertility assistance, who showed a seminal analysis and testicular biopsy of complete azoospermia. Peripheral blood culture for chromosome studies revealed a karyotype of 46 chromosomes with a ring-Y-chromosome that lost the long arm heterochromatin. Molecular analysis of genomic DNA from the patient detected the presence of the sex-determining region of the Y-chromosome (SRY) but the complete absence of regions involved in spermatogenesis (AZFa, AZFb, AZFc). Several molecular markers distributed along the Y-chromosome were tested through PCR amplification, and a breakpoint was established close to the centromere, predicting the deletion of the growth control region, in agreement with the short stature observed in this patient. All results obtained through molecular cytogenetic characterization are in accordance with the clinical features observed in this patient.
Assuntos
Azoospermia/genética , Cromossomos Humanos Y/genética , Cromossomos em Anel , Aberrações dos Cromossomos Sexuais , Adulto , Análise Citogenética , DNA/análise , Marcadores Genéticos/genética , Humanos , Masculino , Reação em Cadeia da PolimeraseRESUMO
In the present study, we report on the case of a 43-year-old male patient seeking for fertility assistance, who showed a seminal analysis and testicular biopsy of complete azoospermia. Peripheral blood culture for chromosome studies revealed a karyotype of 46 chromosomes with a ring-Y-chromosome that lost the long arm heterochromatin. Molecular analysis of genomic DNA from the patient detected the presence of the sex-determining region of the Y-chromosome (SRY) but the complete absence of regions involved in spermatogenesis (AZFa, AZFb, AZFc). Several molecular markers distributed along the Y-chromosome were tested through PCR amplification, and a breakpoint was established close to the centromere, predicting the deletion of the growth control region, in agreement with the short stature observed in this patient. All results obtained through molecular cytogenetic characterization are in accordance with the clinical features observed in this patient.
Assuntos
Humanos , Masculino , Adulto , Azoospermia/genética , Cromossomos Humanos Y/genética , Cromossomos em Anel , Aberrações dos Cromossomos Sexuais , DNA , Análise Citogenética , Marcadores Genéticos/genética , Reação em Cadeia da PolimeraseRESUMO
Contribution of two cases of congenital adrenal hyperplasia by blockade in the 21-hydroxylase enzyme synthesis. Diagnosis was reached from the clinical signs and symptoms (virilization syndrome), and was confirmed by radiological and laboratory tests. Hormone treatment was done with hydrocortisone and fludrocortisone, but surgical correction of external genitalia was required to improve cosmetic appearance.