Cystinosis is a lysosomal storage disease with accumulation of cystine within lysosomes. It can have a number of complications, one of which is infertility.
Patient selection: male with cystinosis
Mechanisms for infertility:
(1) inflammation related to cystine crystal accumulation in tubules and interstitium
(2) obstruction of seminal and/or epididymal ducts
(3) impairment of Sertoli and Leydig cells
In a male untreated with cysteamine the infertility is related to primary hypogonadism.
(1) The onset of puberty is generally delayed.
(2) Limited male sexual characteristics (eunuchoid).
(3) Decreased serum testosterone.
(4) Elevated serum FSH and LH.
In a male treated with cysteamine the infertility is related to azoospermia.
In a male started early on cysteamine, the presence of spermatogenesis on testicular biopsy may allow in vitro fertilization following testicular sperm extraction.
