The diagnosis of Kallmann's syndrome comprises hypogonadotropic hypogonadism associated with anosmia.
To diagnose Kallmann's syndrome and hypogonadotropic hypogonadism a detailed and full general examination is mandatory in the initial assessment of all endocrine patients.
Absent puberty may be the presenting feature in patients with documented or unrecognised congenital abnormalities which may have other non endocrine manifestations.
In children and young adults it is useful to plot growth against standardised charts to aid pubertal staging.
Patients with Turner’s syndrome and pseudopseudohypoparathyroidism tend to have short stature. Patients with Klinefelter’s tend to have tall stature. Patients with Cushing’s syndrome in childhood tend to lose height growth velocity.
Increased carrying angles tend to occur in Turner’s syndrome.
Shortened metacarpals and metatarsals may be seen in pseudopseudohypoparathyroidism.
Mirror movements or synkinesis may be associated with Kallmann's syndrome.
Ask the patient to pinch first finger and thumb together repeatedly with one hand and watch to determine whether action is mirrored in other hand.
Dental hypoplasia and malalignment may occur with Kallmann’s syndrome.
Anosmia should be assessed formally where possible as this symptom may not be reported by the patient.
Deafness may occur in various congenital conditions and has an increased incidence in Turner’s syndrome.
This should be assessed in both upper and lower limbs to screen for coarctation of the aorta in Turner’s syndrome.
This should be assessed thoroughly in patients with suspected hypogonadism to seek evidence of heart failure and for possible complications of Turner’s syndrome.
Pubertal staging requires breast examination to be performed in all.
Nipple spacing tends to be increased in Turner’s syndrome.
Galactorrhoea should be confirmed and documented as either spontaneous or expressible by gently exerting pressure on both sides of the nipple.
Breasts and axillae should also be examined for masses particularly in the case of unilateral galactorrhoea, in case of malignancy.
Serum prolactin levels may increase after breast examination and so should always be checked before this is performed.
Secondary sexual hair should be assessed as part of pubertal staging and in all adults presenting with suspected hypogonadism.
Fine vellus hair is seen in patients with very low body mass and may be associated with hypothalamic hypogonadism.
Secondary sexual characteristics should be assessed as part of pubertal staging.
Testicular volume is particularly important in adult males with suspected hypogonadism and should be documented using an orchidometer.
Clitoromegaly and ambiguous genitalia should also be assessed.
Poor muscle bulk may indicate gonadotropin deficiency.
Muscle wasting may also occur in glucocorticoid deficiency.
Proximal myopathy and slow relaxing reflexes may occur with loss of thyroid function.
Specifically seek signs of thyroid dysfunction which may disrupt gonadal function. Hypothyroidism also has an increased incidence in Turner’s syndrome, and central hypothyroidism is part of hypopituitarism.
Full assessment of acuity and fields is mandatory in all patients with possible pituitary disease, and so should be performed unless the diagnosis of Kallmann's, or isolated hypogonadotropic hypogonadism, has already been confirmed.
Disc pallor is indicative of long term visual loss which may not recover after decompression of the optic pathway.
Papilloedema is an indicator of raised intracranial pressure requiring urgent investigation.
Full cranial nerve assessment is important in all patients with suspected pituitary tumours.
The nerves of the cavernous sinus are most frequently affected, though a VI nerve palsy may be a false localising sign associated with increased intracranial pressure.
Bronze pigmentation may be seen in haemochromatosis. Fine wrinkling of the skin occurs in hypopituitarism. Pallor may also occur with a normocytic normochromic anaemia with glucocorticoid deficiency.
Doughy pallid 'myxoedematous' skin may be seen with loss of thyroid function.
Doughy skin with soft tissue swelling also occurs in growth hormone excess.