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endocrine disorders 1.

thyroid disorders *primary hypothyroidism, * thyrotoxicosis *goiter menstrual disorders and excessive hair growth in young women, most commonly polycystic ovary syndrome (PCOS) osteoporosis, especially in postmenopausal women largely owing to gonadal steroid deficiency primary hyperparathyroidism, affecting about 0.1% of the population subfertility, affecting 510% of all couples, often with an endocrine component disorders of growth or puberty.

Symptoms of tiredness, weakness or lack of energy or drive and changes in appetite or thirst are common presentations of endocrine disease Other typical hormonal symptoms include changes in body size and shape, problems with libido and potency, periods or sexual development, and changes in the skin (dry, greasy, acne, bruising, thinning or thickening) and hair (loss or excess

History and examination

The past, family and social history is essential for making the diagnosis, planning appropriate management and interpreting results of borderline hormonal blood tests. The past history should include previous surgery or radiation involving endocrine glands, menstrual history, pregnancy and growth in childhood. A full drug history will exclude iatrogenic endocrine Problems Family history of autoimmune disease, endocrine disease including tumours, diabetes and cardiovascular disease is frequently relevant, and knowledge of family members height, weight, body habitus, hair growth and age of sexual development may aid interpretation of the patients own symptoms. The major endocrine organs and common endocrine problems
Hyperthyroidism Hypothyroidism Goitre Carcinoma thyroid

Type 1 diabetes Type 2 diabetes

Renin-dependent hypertension

Pituitary and hypothalamus

Hyperprolactinaemia Hypopituitarism Pituitary tumours

Parathyroid glands
Hyperparathyroidism Hypoparathyroidism


Addisons disease Cushings syndrome Conns syndrome Phaeochromocytoma

Osteoporosis Osteomalacia

Aetiology of endocrine disease

Autoimmune disease
Organ-specific autoimmune diseases can affect every major endocrine organ They are characterized by the presence of specific antibodies in the serum, often present years before clinical symptoms are evident evident. The conditions are usually more common in women and have a strong genetic component, often with an identical-twin concordance rate of 50% and with HLA associations

Endocrine tumours
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 Nonfunctioning benign tumours of endocrine organs are even more common and often present as incidentalomas found incidentally during imaging for another condition.

Enzymatic defects
The biosynthesis of most hormones involves many stages Deficient or abnormal enzymes can lead to absent or reduced

production of the secreted 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.

Receptor abnormalities
Hormones work by activating cellular receptors. There are rare conditions in which hormone secretion and control are normal but the receptors are defective; 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, thyroid hormone resistance and pseudohypoparathyroidism.

Hormones as therapy
Hormones are also widely used therapeutically: The oral contraceptive pill is the choice of perhaps 20 30% of women aged 1835 years using contraception. Corticosteroid therapy is widely used in non-endocrine disease such as asthma (see p. 855). Hormone replacement therapy (HRT; oestrogens progestogens) is used for control of menopausal symptoms in postmenopausal women (see p. 997).


Synthesis, storage and release of hormones

Hormones may be of several chemical structures: polypeptide, glycoprotein, steroid or amine. Hormone release is the end-product of a long cascade of intracellular events.