Abstract
Galactosemia (G) is due to either partial or complete deficiency of the enzyme galactose-1-phosphate uridyl transferase (Ts). In females with G, there is a high incidence of premature ovarian failure. This study attempts to correlate the level of Ts activity in erythrocytes with ovarian function. In 28 patients (pts), ages 1-32 yrs, Ts by microassay technique, LH, FSH and estradiol levels were measured. Stimulation with gonadotropin-releasing hormone (GnRH) was performed to assess ovarian function in pts with basal LH and FSH levels 7.0 units) in 25 pts; 23 of these had evidence of ovarian insufficiency. In pts >13 yrs, there was a progressive rise of the gonadotropin levels as the ovary failed, although in 1 pt this occurred at 26 yrs of age after the birth of a normal infant. In pts <12 yrs, elevated basal FSH levels and an exaggerated gonadotropin response to GnRH was seen. Three pts, ages 30, 26, 24 yrs, had minimal Ts activity detected by microassay (0.15, 0.018, 0.004 units, respectively). These pts all had evidence of normal gonadal function by either normal response to GnRH stimulation in 2 pts and repeated fertility in 1 pt. CONCLUSION: Ovarian damage in G occurs in the complete absence of the Ts enzyme and minimal levels of Ts appear to be enough to preserve ovarian function.
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