Turner syndrome
Turner syndrome is characterised by gonadal dysgenesis and short stature. The diagnosis is confirmed by the karyotype 45 XO.
What is the main presenting feature: absent or delayed puberty, primary or secondary amenorrhoea, or is the patient seeking fertility?
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.
Is the patient known to have other physical or developmental problems?
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.
Has the patient been through the normal sequence of puberty?
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.
Has the patient started to menstruate, or has their pattern of menstruation changed?
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.
Has the patient previously sought fertility? Has this resulted in pregnancies?
Previous successful pregnancies will alter the differential diagnosis. They are unusual but not impossible in patients with Turner's syndrome.
Does the patient feel their libido is normal or has this changed?
Absent libido may occur with primary hypogonadism of any cause.
Has the patient developed hot flushes?
This may occur with adult onset sex hormone deficiency.
Has the patient ever had otitis media or hearing problems?
Various auditory problems are more common in patients with Turner's syndrome.
Has the patient had any feeding difficulties or dental problems?
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.
Does the patient have hypertension or other vascular problems?
Hypertension and coarctation of the aorta are both associated with Turner's syndrome. Other cardiac abnormalities may also occur.
Has the patient had any renal or urinary tract symptoms?
Anatomical abnormalities of the urogenital tract is commonly associated with Turner's syndrome.
Has the patient any symptoms suggestive of thyroid dysfunction?
Thyroid dysfunction is commonly associated with Turner's syndrome.
Does the patient have a history of diabetes?
Diabetes has an increased incidence in Turner's syndrome.
Is the patient taking any prescribed or non prescribed medications?
Various medications can interfere with the hypothalamic-pituitary-gonadal function.
Does the patient take a normal diet, or are they taking any supplements, or soya containing foods or milk?
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'.