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I am an endocrinologist from India. The cases are 2 male patient, both are a known case of congenital rubella syndrome with deaf mutism. case-1 presented to us at 23 yrs with concern of lack of secondary sexual character. He was 168cm tall(target height was 166) with enuchoid proportions. His pubertal status being P3,A2. testicular volume was 2ml and SPl was 7 cm. gynecomastia was present. No anosmia. His hormonal profile was suggestive of hypergonadotropic hypogonadism(Testosterone: <0.2, LH:38, FSH:62). karyotype was 46XY. No other obvious causes for primary testicular failure. Case-2 presented to us at 18yrs of age with similar profile and evaluation showed''hypergonadotropic hypogonadism. Both of them are corretly on testosterone replacement.The question of concern in this case is: Is there any association between hypergonadotropic hypogonadism and congenital rubella syndrome.
Thanks.
Dr.Kumaravel, Kochi Kerala, India
Response
Dear Dr. Kumaravel:
I was not aware of an association between congenital rubella and hypergonadoropic hypogonadism and for this reason I have done a careful search of the literature and found nothing specific on this issue. There is only one report (Priebe CJ Jr et al. J Pediatr Surg 1979; 14:834) in which abnormalities of the vas deferens and epididymis are described in cryptorchid boys with congenital rubella. Cryptorchidism was reported in 12% of 316 boys with congenital rubella, and the vasoepididymal system was absent or apparently obstructed in 60% of the 8 patients who underwent orchiopexy.Of these 8 patients, 2 had a malrotated kidney on the involved side, and in 5 of them, a known rubella infection had occurred during the first 8 wk of gestation. The Authors conclude that since the rubella virus is known to interfere with cellular growth and tissue differentiation in early preganancy, it apparently altered the developing testis and mesonephric duct system. This pathogenetic mechanism may apply to your patients as well. In view of this report, even though your patients do not have cryptorchidism, it may be worth doing at least an abdominal sonogram looking for urinary tract anomalies. This is it!
Sorry, but I cannot be of any further help. Best wishes,
Lucia Ghizzoni M.D., Ph.D