The case of a 32 year old male with normal male adrenarchal hair pattern, bilateral gynaecomastia, a small phallus, hypospadias and bilateral poorly developed testes presenting with primary infertility secondary to azoospermia and a pelvic cyst is described. Repeated chromosomal analysis showed 46XX chromosomal constitution. Laparotomy revealed a simple cyst between the urinary bladder and the rectum. XX male syndrome is a rare cause of male infertility. The majority of cases is due to interchange of a fragment of the short arm of the Y chromosome containing the region that encodes the testes determining factor with the X chromosome. The presence of a simple cyst in the anatomical location of the uterus to our knowledge has not been reported in the literature.
It is well known that the endocrine-disrupting chemical (EDC) dibutylphthalate (DBP) inhibits testosterone synthesis and can lead to feminisation in male laboratory animals. Moreover, it has long been speculated that human exposure would result in the similar effects, but this is difficult to study because specific human exposure cohorts are rare. We report increases in the incidences of hypospadias (p<0.05), cryptorchidism (p<0.05) and breast cancer (p<0.05) in the children of New Zealand soldiers who served in Malaya (1948-1960) and were exposed to DBP applied daily to their clothing as an acaricide to prevent tick-transmitted bush typhus. In addition, we modelled absorption of DBP from the soldiers' clothing and using published data for skin absorption, and calculated a large theoretical absorbed dose of 64 mg/kg body weight/day which is similar to DBP's lowest observed adverse effect level (LOAEL) of 50 mg/kg body weight/day and thus indicates a biological effect is possible. This is the first report of a multigenerational developmental effect following DBP exposure in human males.