Research article Open access
Isolated Hypogonadotropic Hypogonadism in a Young Woman with Primary Amenorrhoea
We describe a case of a young woman who presented with delayed secondary sexual development and primary amenorrhoea. She had low levels of oestradiol, follicle-stimulating hormone, and luteinizing hormone with normal levels of other pituitary hormones. Genetic testing revealed a rare diagnosis of autosomal recessive hy …