The androgen receptor (AR) gene, located on the X-chromosome at Xq11-12, contains in exon 1 a polymorphic CAG repeat which codes for a polyglutamine tract. Contractions of the CAG repeat are said to be related to prostate cancer. In contrast, sizeable expansion of the CAG repeat can cause spinal and bulbar muscular atrophy (SBMA). In infertile patients of Chinese origin and in a Melbourne multinational population impaired sperm production has been postulated to be related to moderate expansions of the polyglutamine tract. In a study of a Swedish population of infertile patients these findings could not be corroborated. The aim of our investigation was to examine the correlation between the length of the CAG repeat and impaired sperm production in an infertile Caucasoid patient sample of German ethnic origin. We found no statistically significant relationship between the size of the CAG repeat or polyglutamine tract and idiopathic impaired sperm production in the population studied. The variability of the results by various investigators may be attributed to different ethnic origins and hence different genetic modifiers of the populations studied and/or to the high probability that these infertile males may represent a heterogeneous group with respect to the causes of defective spermatogenesis.

Changes in the enzyme-activity levels of the placental steroid enzyme, 17Β-hydroxysteroid:NAD(P)-oxydoreductase were examined in the plasma of women with normal and pathological pregnancies. The behaviour of the enzyme-activity levels in normal pregnancies did not differ from pregnancies complicated by temporary signs of threatened abortion. Imminent and recent inevitable abortions showed significantly higher and old-protracted inevitable abortions significantly lower enzyme levels than normal controls. It is concluded that the placental enzyme in the plasma of pregnant women could be of use in monitoring threatened abortion and distinguishing it from inevitable abortion. In pregnancies complicated by diabetes mellitus, there was increased antenatal incidence of pathological enzyme levels above and below the normal 95 percent tolerance limits in poorly controlled cases, heavy babies, heavy placentas, hydramnion and fetal distress.

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