Hypogonadism

Loss of gonadal function of any cause. Diagnosis requires testing of sex hormone and gonadotropin levels. This section includes absent or delayed puberty, primary testicular failure, premature ovarian failure, and secondary hypogonadotropic hypogonadism.

General examination

To diagnose hypogonadism a detailed and full general examination is mandatory in the initial assessment of all endocrine patients.

Abnormalities of pubertal development may be the presenting feature in patients with unrecognised congenital abnormalities which may have other non endocrine manifestations.

Height, weight, arm span and BMI

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.

Arms, carrying angles, hands and feet

Increased carrying angles tend to occur in Turner’s syndrome.

Shortened metacarpals and metatarsals may be seen in pseudopseudohypoparathyroidism.

Examine for mirror movements

Synkinesis or mirror movements occur in some forms of 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.

Palate and teeth

Dental hypoplasia and mal-alignment may occur with Kallmann’s syndrome.

Olfactory and auditory nerves

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.

Blood pressure

This should be assessed in both upper and lower limbs to screen for coarctation of the aorta in Turner’s syndrome.

Cardiovascular examination

This should be assessed thoroughly in patients with suspected hypogonadism to seek evidence of heart failure and for possible complications of Turner’s syndrome.

Gastrointestinal system

This should be assessed thoroughly in patients with suspected hypogonadism to seek evidence of cirrhosis or haemochromatosis.

Breasts

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.

Serum prolactin levels may increase after breast examination and so should always be checked before this is performed.

Body hair

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.

External genitalia

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.

Musculature

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.

Thyroid and thyroid status

Specifically seek signs of thyroid dysfunction which may disrupt gonadal function, as part of the general pituitary examination. It may occur in association with Turner’s syndrome.

Pituitary status


Visual acuity and visual fields

Full assessment of acuity and fields is mandatory in all patients suspected of pituitary disease to detect chiasmal compression or other involvement of the optic pathways.


Visual fundoscopy

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.


Cranial nerves III-XII

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.


Skin

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.