Dodat H, Rosenberg D, James-Pangaud I
Service de chirurgie pédiatrique, hôpital Edouard-Herriot, Lyon, France.
Arch Pediatr. 1995 Mar;2(3):241-4. doi: 10.1016/0929-693x(96)81135-3.
Diphallia and penoscrotal transposition are rare, generally sporadic, abnormalities.
Case 1: A 2-1/2-month-old boy was admitted in hospital because he suffered from complete penoscrotal transposition, with moderate hypospadias for which he was operated on. Examination at the age of 6 years showed hypoplastic and dislocated patellae. Case 2: A 2-month-old boy, brother of case 1, also suffered from incomplete penoscrotal transposition, associated with diphallia but without double bladder, that was operated on. Ultrasonography at the age of 17 months showed absence of patellae. The sister of these two patients was normal but her mother displayed ambiguous genitalia with phallic structure located beneath partially fused labial folds. Her patellae were also absent.
This is the first familial case of true diphallia associated to penoscrotal transposition. This abnormality is also associated to absence of patellae and seems to be dominantly inherited.
重复阴茎及阴茎阴囊转位是罕见的、通常为散发性的异常情况。
病例1：一名2个半月大的男婴因完全性阴茎阴囊转位并伴有中度尿道下裂入院接受手术治疗。6岁时检查发现髌骨发育不全且脱位。病例2：病例1的弟弟，一名2个月大的男婴，患有不完全性阴茎阴囊转位，并伴有重复阴茎，但无重复膀胱，接受了手术治疗。17个月大时超声检查显示无髌骨。这两名患者的姐姐正常，但她们的母亲生殖器模糊，有位于部分融合阴唇皱襞下方的阴茎样结构。她也没有髌骨。
这是首例与阴茎阴囊转位相关的家族性真性重复阴茎病例。这种异常还与无髌骨有关，似乎为显性遗传。
