Adult height was compared between published cases of patients with XX gonadal dysgenesis (XXGD) and those with XY gonadal dysgenesis (XYGD). The mean adult height of XYGD patients (171.0 cm (SD 7.8), n = 27) was significantly greater than that of XXGD patients (164.4 cm (7.7), n = 27) (p less than 0.01). This finding supports the existence of a Y specific growth gene(s) which promotes statural ...

A 33-year-old phenotypic female presented with primary amenorrhea. The physical examination revealed no breast development, scanty axillary and pubic hair, normal female external genitalia, and a short blind vagina. The findings of magnetic resonance imaging, karyotyping, and hormonal examinations supported the diagnosis of XY partial gonadal dysgenesis. Laparoscopic surgery showed that spermat...

Transverse vaginal septum is a rare occurrence. When it co-exists with cervical dysgenesis, it is even rarer. Primary amenorrhea with cyclic pain is one manifestation in post-pubertal women. A case of transverse vaginal septum with vaginal atresia and cervical dysgenesis is presented. Presentation as a huge abdominal mass and severe anaemia posed diagnostic challenges. A two-staged management i...

PURPOSE To determine whether the MR findings of callosal dysgenesis suggest that the partially formed corpus callosum in humans is the result of arrested growth or delayed continued development. METHODS The MR scans of 25 patients with callosal dysgenesis were reviewed to determine whether the observed corpus callosum corresponded to the form and position of a portion of a normal corpus callo...