An 11-week human fetus with megacystis, prostatic dysgenesis, and lateral displacement of the abdominal muscles is described. We suggest that a subtle outflow obstruction of the very early bladder may give rise to both bladder dilation and bladder wall dysgenesis. The bladder dilation may produce abdominal muscle dysplasia or atrophy and almost certainly produces dilation of the prostatic ureth...

The pathophysiology of thyroid dysgenesis remains unclear and, until recently, this disorder was generally regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%) through the study of subjects with congenital hypothyroidism, and more recent work has revealed an even higher proportion of familial thyroid dysgenesis in both symptomatic and asy...

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...