Fertility

Question

Hello,
My son (27 months) carries DF508 and G542X mutations. He is doing well, we make physiotherapy 2 times a day, take vitamins, CREON, salts, etc ...
Is there the possibility that his vas deferens are well developed? Are there any ongoing studies about fertility in CF patients? Thank you for your answers.

Answer

CFTR is involved in the regulation of ATP release from principal cells in the cauda epididymidis. Defective ATP signaling in the epididymis might contribute to dysfunction of the male reproductive tract in CF (1).
Infertility rates among males with cystic fibrosis (CF) are approximately 98%. Assisted reproductive techniques (ART) may offer these patients the possibility of becoming biological fathers (2). The recent advances in reproductive techniques and the awareness the spermatogenesis is in most cases normal in CF have allowed the development of sperm aspiration coupled with intra-cystoplasmic sperm injection (ICSI). Surgical collection of sperm is achieved by microsurgical epidymal sperm aspiration (MESA: where individual tubules are open and sperm-rich fluid is gently aspired) or testicular sperm extraction (3).
Best regards.

Pr. Michel Abely

1. ATP secretion in the male reproductive tract: essential role of CFTR.
Ruan YC, Shum WW, Belleannée C, Da Silva N, Breton S.
J Physiol. 2012 Jul 30.

2. Results of assisted reproductive technique in men with cystic fibrosis.
Hubert D, Patrat C, Guibert J, Thiounn N, Bienvenu T, Viot G, Jouannet P, Epelboin S.
Hum Reprod. 2006 May;21(5):1232-6.

3. Fertility issues in cystic fibrosis.
Lyon A, Bilton D.
Paediatr Respir Rev. 2002 Sep;3(3):236-40.

24.08.2012