title: [Seminal and biochemical features in a subject with male phenotype and 46, XX genotype].
abstract: Semen parameters and biochemical seminal markers in a 46,XX male subject were evaluated; Southern blot analysis with Y-DNA probes showed the absence of the SRY (Sex-determining Region of Y). The semen analysis, carried out three times, showed azoospermia, reduced volume (< 0.5 ml) and reduced pH value. Assays of the biochemical markers of the genital tract gave a profile very similar to that seen in cases of blockage of the ejaculatory ducts. This is probably due to inadequate differentiation of the genital tract adnexal glands leading to aplasia of the seminal vesicles. As a consequence, the ejaculate is formed of prostatic fluid only. The authors would underline the difficulties of counselling these subjects. This is particularly difficult where, as in this case, the genetic diagnosis is carried out in adulthood. In addition to the psychological stress of confirmed sterility, the patient must inevitably undergo the trauma of questioning his sexual identity.
authors.affiliation: Dipartimento di Fisiopatologia Medica, Università La Sapienza, Roma.
authors.forename: F
authors.initials: F
authors.lastname: Mazzilli
authors.forename: L M
authors.initials: LM
authors.lastname: De Santis
authors.forename: T
authors.initials: T
authors.lastname: Rossi
authors.forename: M
authors.initials: M
authors.lastname: Delfino
authors.forename: F
authors.initials: F
authors.lastname: Dondero
mesh_terms: D000328:Adult; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012661:Semen / Q000378:metabolism; D013577:Syndrome; D014960:X Chromosome