Fertility and sterility · 2007
Azoospermia as a new feature of Fabry disease.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Papaxanthos-Roche Aline, Deminière Colette, Bauduer Frédéric, Hocké Claude, Mayer Guy, Lacombe Didier
Аннотация
OBJECTIVE: To describe two cases of azoospermia in men with Fabry disease.
DESIGN: Case report.
SETTING: Centre hospitalier universitaire, maternité Pellegrin, Bordeaux, France.
PATIENT(S): Two infertile men with azoospermia and with Fabry disease.
INTERVENTION: Testicular biopsies.
MAIN OUTCOME MEASURE: Histological and electron microscopy analysis of testicular biopsies.
RESULT(S): Testicular biopsies revealed characteristic aspects of trihexosid ceramid deposits in Leydig cells by optical and electronic microscopic analysis. Using testicular sperm extraction and intracytoplasmic sperm injection, sperm retrieval led to pregnancies and deliveries of healthy children.
CONCLUSION(S): Azoospermia should be considered as a possible complication of Fabry disease. We recommend a routine sperm analysis in the follow-up of young patients with Fabry disease. Azoospermia was still present after 4 years of agalsidase-beta therapy. Because we do not know the efficacy of agalsidase therapy on the genital involvement in Fabry disease, sperm cryopreservation is recommended.
DESIGN: Case report.
SETTING: Centre hospitalier universitaire, maternité Pellegrin, Bordeaux, France.
PATIENT(S): Two infertile men with azoospermia and with Fabry disease.
INTERVENTION: Testicular biopsies.
MAIN OUTCOME MEASURE: Histological and electron microscopy analysis of testicular biopsies.
RESULT(S): Testicular biopsies revealed characteristic aspects of trihexosid ceramid deposits in Leydig cells by optical and electronic microscopic analysis. Using testicular sperm extraction and intracytoplasmic sperm injection, sperm retrieval led to pregnancies and deliveries of healthy children.
CONCLUSION(S): Azoospermia should be considered as a possible complication of Fabry disease. We recommend a routine sperm analysis in the follow-up of young patients with Fabry disease. Azoospermia was still present after 4 years of agalsidase-beta therapy. Because we do not know the efficacy of agalsidase therapy on the genital involvement in Fabry disease, sperm cryopreservation is recommended.