Hidden X Chromosomal Mosaicism in a 46,XX Male

We report on a 37-year-old XX male with complex hidden X chromosomal mosaicism. The patient had fully mature male genitalia with hypoplastic testes descended in the scrotum and no sign of undervirilization. Hormonal examination demonstrated hypergonadotropic hypogonadism, semen analysis showed sever...

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Veröffentlicht in:	Sexual development 2009-01, Vol.3 (4), p.183-187
Hauptverfasser:	Chernykh, V.B., Kurilo, L.F., Shilova, N.V., Zolotukhina, T.V., Ryzhkova, O.P., Bliznetz, E.A., Polyakov, A.V.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Case Report Chromosomes, Human, X - genetics Female Gonadal Dysgenesis, 46,XX - genetics Humans In Situ Hybridization, Fluorescence Male Mosaicism Receptors, Androgen - genetics Sex-Determining Region Y Protein - metabolism X Chromosome Inactivation - genetics
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Beschreibung
Zusammenfassung:	We report on a 37-year-old XX male with complex hidden X chromosomal mosaicism. The patient had fully mature male genitalia with hypoplastic testes descended in the scrotum and no sign of undervirilization. Hormonal examination demonstrated hypergonadotropic hypogonadism, semen analysis showed severe oligoasthenoteratozoospermia. In situ hybridization revealed the presence of 3 SRY-positive cell lines bearing 1, 2 or 3 X chromosomes. Skewed inactivation of the paternal SRY-bearing X chromosome was detected by molecular analysis of the androgen receptor gene.
ISSN:	1661-5425 1661-5433
DOI:	10.1159/000228718