Semen analysis in males with IGSF1 deficiency syndrome

In 2012 it was discovered that mutations in the X-bound IGSF1 gene leads to an
illness characterized by central hypothyroidism, a delayed puberty and
macroorchidism. Due to the recent discovery of this syndrome, there is still a
lot unknown about the disease. For instance, it is unsure what causes the
marked macroorchidism, and what it's effects are on the spermatogenesis.
In Fragile X-syndrome, also an X-bound disease with a similar growth pattern
and macroorchidism, men were found to have a decreased semen quality. While
these patients have a diminished fertility, they, like patients with IGSF1
mutations, have the ability to reproduce. There is nothing known about the
fertility of men with IGSF1 mutations.
In the current study, the semen quality of men with IGSF1 mutations is
evaluated.This study does not only provide more information about the fertility
of these men, but may also offer more insight in the pathofysiology behind the
macroorchidism.

Primary objective:
1) To examine the effect of IGSF1 deficiency syndrome on semen quality when
compared to WHO reference ranges;
2) The comparison of semen quality of these patients to that of healthy
controls.To investigate the association between semen quality and endocrine
parameters.

A cross-sectional study.

Venous blood sampling carries a small risk of bleeding and bruising.