Kolon T F, Gray C L, Borboroglu P G
Department of Urology, Naval Medical Center, San Diego, California 92134-5000, USA.
Urology. 1999 Dec;54(6):1097. doi: 10.1016/s0090-4295(99)00420-3.
An infant born at 38 weeks' gestation with ambiguous genitalia had a prenatal 45X karyotype but an enlarged phallus on an ultrasound scan at 31 weeks' gestation. The newborn examination demonstrated penoscrotal hypospadias with chordee and two gonads palpable in the scrotum with a right hydrocele. Ultrasound showed a saccular structure containing debris behind the bladder. The postnatal karyotype was revealed to be 45X/46XY, with a pseudodicentric Y chromosome. Cystoscopy/genitography identified a uterus and a right fallopian tube, which were removed along with a dysgenetic right gonad. Biopsy of the descended left gonad revealed rare germ cells. The final diagnosis was 45X/46XY male pseudohermaphroditism with testicular dysgenesis. One should be aware of possible chromosomal mosaicism and combine the prenatal karyotype with the ultrasound genital findings to formulate an intersex differential diagnosis.
一名孕38周出生、生殖器模糊的婴儿，产前核型为45,X，但孕31周超声检查显示阴茎增大。新生儿检查发现阴茎阴囊型尿道下裂伴阴茎下弯，阴囊内可触及两个性腺，右侧有鞘膜积液。超声显示膀胱后方有一个含碎屑的囊状结构。产后核型显示为45,X/46,XY，有一条假双着丝粒Y染色体。膀胱镜检查/生殖系统造影发现一个子宫和一条右侧输卵管，连同发育不全的右侧性腺一并切除。对下降至阴囊的左侧性腺活检发现罕见的生殖细胞。最终诊断为45,X/46,XY男性假两性畸形伴睾丸发育不全。应注意可能存在的染色体嵌合体，将产前核型与超声生殖器检查结果相结合，以制定两性畸形的鉴别诊断。
