The commonest endocrine disorders, excluding diabetes mellitus , are:
THYROID DISORDERS, affecting four to eight new patients per primary care physician per year. Most common problems are thyrotoxicosis, primary hypothyroidism and goitre.
SUBFERTILITY, affecting 5-10% of all couples, often with an endocrine component, and increasingly treatable.
MENSTRUAL DISORDERS AND EXCESSIVE HAIR GROWTH IN YOUNG WOMEN, particularly polycystic ovary syndrome.
OSTEOPOROSIS, especially in postmenopausal women, is of increasing importance in fracture of the femur and premature death and disability.
PRIMARY HYPERPARATHYROIDISM, affecting about 0.1% of the population.
CHILDREN WITH SHORT STATURE OR DELAYED PUBERTY.
While most other endocrine conditions are very uncommon, they often affect young people and are usually curable or completely controllable with appropriate therapy. Hormones are also widely used therapeutically:
ORAL CONTRACEPTIVE PILL, the choice of perhaps 25-30% of women aged 18-35 years using contraception.
(oestrogens ± progestogens) women.
CORTICOSTEROID THERAPY is widely used in nonendocrine disease such as asthma.
Body size and shape
Excessiveweight or weight gain
loss of weight
Swelling in the neck
Carpal tunnel syndrome
Bone or muscle pain
Protrusion of eyes
Visual loss (acuity and/or fields)
Lossor absence of libido
Common endocrine presenting symptoms , which demonstrates the many effects that hormonal abnormalities can produce. Hormones produce widespread effects upon the body; focal symptoms are less common than with other systems. Many endocrine symptoms are diffuse and vague, and the differential diagnosis is often wide.
HISTORY AND EXAMINATION
A detailed history including the past, family and social history should be taken. Physical signs are listed under the relevant systems. A full drug history is mandatory as endocrine problems are quite often iatrogenic. Specific points about endocrine disease As with other systems, endocrine diseases may be congenital or acquired and can be caused by a variety of pathologies. However, several forms of illness are commoner than in other systems.
Organ-specific autoimmune diseases have now been shown for every major endocrine organ.
They are characterized by the presence of specific antibodies in the serum, often present years before clinical symptoms are evident. The conditions are usually commoner in women and have a strong genetic component, often with an identical-twin concordance rate of 50% and with HLA associations (see individual diseases). Several of the autoantigens have now been identified
Necessarydetails may include:
Previous pregnancies (ease of conception, postpartum haemorrhage).
Relevant surgery (e.g. thyroidectomy, orchidopexy) Radiation (e.g. to neck, gonads, thyroid) Drug exposure (e.g. chemotherapy, sex hormones, oral contraceptives).
In childhood, developmental milestones and growth Family history Family history of:
Family details of:
Age of sexual development
Detailed records of alcohol intake (e.g. in subfertility, obesity) Drug abuse (e.g. cannabis and subfertility) Full details of occupation, e.g. accessto drugs, chemicals Diet. e.g. salt. liquorice, iodine.
Hormone-secreting tumours occur in all endocrine organs, most commonly pituitary, thyroid and parathyroid. Fortunately, they are more commonly benign than malignant. While often considered to be ‘autonomous’, that is independent of the physiological control mechanisms, many do show evidence of feedback occurring at a higher ‘set-point’ than normal (e.g. ACTH secretion from a pituitary basophil adenoma).
The molecular basis of some of these tumours is now understood, e.g. an abnormal G protein in prolactinomas and abnormalities on chromosome 11 in multiple endocrine neoplasia (MEN) type 1 tumours and on chromosome 10 in MEN type 2A.
The biosynthesis of most hormones involves many stages. Deficient or abnormal enzymes can lead to absent or reduced production of the terminal hormone. In general, severe deficiencies present early in life with obvious signs; partial deficiencies usually present later with mild signs or are only evident under stress. An example of an enzyme deficiency is congenital adrenal hyperplasia (CAH). Again the molecular basis is now known for several abnormalities, particularly for CAH where the coding gene is on the short arm of chromosome 6, and affected patients have defects such as point mutations or deletions.
Hormones work by activating cellular receptors. There are rare conditions in which hormone secretion and control are normal but the receptors are defective: thus, if androgen receptors are defective, normal levels of androgen will not produce masculinization (e.g. testicular feminization). There are also a number of rare syndromes of diabetes and insulin resistance from receptor abnormalities other examples include nephrogenic diabetes insipidus and pseudohypoparathyroidism.