11th April 2024

Investigations

In women presenting with menstrual disturbance, clinicians should enquire about symptoms of oestrogen deficiency and other systemic features. 

Initial biochemical tests include human chorionic gonadotrophin (hCG) and FSH. LH, Oestradiol, testosterone, prolactin, thyroid stimulating hormone, and other pituitary function tests may be useful in aiding diagnosis.

In pre-pubertal females, screening for genetic causes of primary hypogonadism should be considered, such as a pelvic ultrasound scan and karyotyping if the uterus is absent.

Additional imaging, such as an MRI brain for patients with hypogonadotropic hypogonadism, may be considered if an intracranial cause is suspected based on clinical presentation. Abdominal imaging may reveal a local cause or horseshoe kidneys, which are associated with Turner syndrome.