Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility
J Zheng, J Mao, M Cui, Z Liu, X Wang, S Xiong… - European journal of …, 2017 - Elsevier
Isolated follicle stimulating hormone (FSH) deficiency due to mutations in FSHβ is an
extremely rare autosomal recessive disease that has only been reported in ten patients to
date. Symptoms of the disease include amenorrhoea and hypogonadism in women and
azoospermia and normal testosterone levels in men. This study describes a Chinese male
patient who presented with cryptorchidism and infertility. His serum hormonal profile
revealed low FSH, elevated LH and normal testosterone levels. Sequence analysis …
extremely rare autosomal recessive disease that has only been reported in ten patients to
date. Symptoms of the disease include amenorrhoea and hypogonadism in women and
azoospermia and normal testosterone levels in men. This study describes a Chinese male
patient who presented with cryptorchidism and infertility. His serum hormonal profile
revealed low FSH, elevated LH and normal testosterone levels. Sequence analysis …