Turner syndrome is characterised by gonadal dysgenesis and short stature. The diagnosis is confirmed by the karyotype 45 XO.
Detailed history, including pubertal development, is mandatory in all patients as this may reduce the differential diagnoses considerably.
Specific lines of questioning are indicated according to the exact problem see below.
Check whether the patient is known to have any cardiac or renal abnormalities. There is also an increased risk of deafness, thyroid dysfunction and coeliac disease.
Some patients with Turner mosaicism, or with only partial deletion of the second X chromosome will go through puberty and present later with secondary amenorrhoea or infertility.
Some patients with Turner mosaicism will present with secondary amenorrhoea. However, other differential diagnoses should be considered in such patients, for example polycystic ovarian syndrome as well as hyperprolactinaemia and thyroid dysfunction below.
Previous successful pregnancies will alter the differential diagnosis. They are unusual but not impossible in patients with Turner's syndrome.
Absent libido may occur with primary hypogonadism of any cause.
This may occur with adult onset sex hormone deficiency.
Various auditory problems are more common in patients with Turner's syndrome.
High arched palate is more common in Turner's syndrome and may cause feeding problems at birth.
Dental hypoplasia is associated with Kallmann's syndrome which also presents with hypogonadism, and micrognathia may occur in Turner's leading to orthodontic problems.
Hypertension and coarctation of the aorta are both associated with Turner's syndrome. Other cardiac abnormalities may also occur.
Anatomical abnormalities of the urogenital tract is commonly associated with Turner's syndrome.
Thyroid dysfunction is commonly associated with Turner's syndrome.
Diabetes has an increased incidence in Turner's syndrome.
Various medications can interfere with the hypothalamic-pituitary-gonadal function.
Patients presenting with hypogonadotropic hypogonadism should be assessed for other possible causes unless the diagnosis of Turner's syndrome has been confirmed.
Anorexia nervosa and very low BMI of any cause may result in hypothalamic dysfunction.
Soya is known to contain large amounts of phytoestrogens which may interfere with the hypothalamic-pituitary-gonadal axis. Steroids also interact with the hypothalamo-pituitary-gonadal axis and may occasionally be found in preparations thought by the patient to be 'natural' or 'herbal'.