THE INHERITANCE OF POLYCYSTIC OVARIAN DISEASE AND A POSSIBLE RELATIONSHIP TO PREMATURE BALDING

Abstract

SUMMARY: We have examined the prevalence of a history of hirsuties, alone or associated with oligomenorrhoea and infertility, among first degree female relatives of 284 hirsute patients with or without oligomenorrhoea, and found it to be significantly higher than that in controls (P< 0.001). The prevalence of a history of premature balding among first degree male relatives of 136 such patients was also significantly higher than that in controls (P<0.001). We found relative prevalences of the respective conditions among mothers and daughters and among fathers and brothers suggestive in both cases of modified dominant forms of inheritance. These data and evidence from the literature suggest the possible existence of a single genetically determined disorder with hirsuties, oligomenorrhoea, infertility and commonly but not invariably enlarged polycystic ovaries occurring among affected female members, and with premature balding among affected male members. The prevalence of a history of oligomenorrhoea and infertility together was also examined among first degree relatives of forty‐five non‐hirsute patients with oligomenorrhoea and enlarged ovaries demonstrated by gynaecography and found significantly greater than that in controls (P< 0.001). The prevalence among forty‐five similar patients but with gynaecographically normal‐sized ovaries was greater than that in controls but the difference fell short of significance (P= 0.06). The data suggest the existence of a genetically determined disorder consisting of oligomenorrhoea, infertility and commonly but not invariably enlarged polycystic ovaries. Again the relative prevalences among mothers and sisters suggest a modified dominant form of inheritance. Neither the prevalence of hirsuties among first degree female relatives nor of premature balding among first degree male relatives differed from controls in these non‐hirsute patients. This suggests that the two disorders are aetiologically distinct. Their possible pathogeneses, which remain obscure, are discussed. A steroid receptor organ anomaly is one possibility.