Reproductive history of patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

OBJECTIVE:To study the reproductive history of patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) who have a nonfunctioning vitamin D receptor (VDR). DESIGN:Retrospective cohort study. SETTING:Tertiary university-affiliated medical center. PATIENT(S):Sixteen HVDRR patients and six spouses, four female and two male. INTERVENTION(S):None. MAIN OUTCOME MEASURE(S):The data on age at menarche, time of conception, and number of pregnancies, abortions, and healthy newborns as reported by HVDRR women and partners of HVDRR men were analyzed, as were the results of semen sample analyses from HVDRR men. RESULT(S):All 16 patients had normal puberty. The mean age at menarche was 13.8 ± 0.8 years. Two married HVDRR women reported four normal pregnancies and four healthy newborns. Four married HVDRR men reported 15 pregnancies and nine healthy newborns. The wives of two of these men, who are brothers, gave birth to three healthy newborns and had six natural miscarriages during the second trimester of pregnancy. Time to conceive for all the female study patients was <1 year. Analysis of semen from the four men showed normal parameters. CONCLUSION(S):The VDR is expressed throughout the organs of reproduction, suggesting a role for vitamin D in reproduction. However, the reproductive potential of HVDRR patients with a mutant VDR gene with a nonfunctioning VDR appears to be normal.