Testicular function in males with infantile nephropathic cystinosis.

ABSTRACT:

Study question

Do males with the rare lysosomal storage disease infantile nephropathic cystinosis (INC) have a chance of biological fatherhood?

Summary answer

Cryostorage of semen could be an option for approximately 20% of young males with INC, with surgical sperm retrieval from the centre of the testes providing additional opportunities for fatherhood.

What is known already

Biallelic mutations in the cystinosin (CTNS) gene in INC cause dysfunction in cystine transport across lysosomal membranes and cystine accumulation throughout the body. Spontaneous paternity in cystinosis has not been described, despite the availability of cysteamine treatment. Azoospermia has been diagnosed in small case series of males with INC. ART using ICSI requires few spermatozoa, either f

SUBMITTER: Rohayem J 

PROVIDER: S-EPMC8058591 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature