An Endocrinologist’s Guide to Genetics in the Age of Genomics
Related posts: Tall Stature Salt and Water Balance Endocrine Effects of Cancer Treatment Adrenal Disorders Thyroid Disorders Calcium and Bone
ENDOCRINOLOGY
Differences in Sex Development and Common Genital Anomalies
7Differences in Sex Development and Common Genital Anomalies Introduction Normal sexual differentiation and its genetic and hormonal control Classification of DSDs Initial investigation of dsds Aetiological diagnosis, sex assignment, and…
Hypoglycaemia
2Hypoglycaemia Physiology Symptoms and signs of hypoglycaemia Definition Aetiology Preliminary examination and investigation Treatment Emergency management of acute hypoglycaemia Guidelines for follow‐up When to involve a specialist centre Transition Future…
Endocrine Effects of Cancer Treatment
12Endocrine Effects of Cancer Treatment Pathophysiology Investigation and management of late endocrine effects Specific endocrine and growth abnormalities associated with cancer treatment When to involve a specialist centre Future developments…
Salt and Water Balance
9Salt and Water Balance Physiology and pathophysiology Hyponatraemia Endocrine hypertension Hypernatraemia Diabetes insipidus When to involve a specialist centre Future developments Controversial points Potential pitfalls Emergencies Case histories Further Reading…
Tall Stature
4Tall Stature Pathogenesis and differential diagnosis Assessment of the child or adolescent with tall stature Investigations Causes of tall stature Endocrine causes of tall stature Treatment of familial (constitutional) tall…
Parathyroid disease
Parathyroid disease, syndromes and pathophysiology William B. Inabnet James A. Lee Barnard J.A. Palmer Introduction Hyperparathyroidism is a disease characterised by elevated serum calcium and inappropriately elevated parathyroid hormone (PTH) levels, which occurs…
Gastrointestinal neuroendocrine tumours
Introduction In 1907 Oberndorfer first used the name carcinoid to describe rare ileal tumours with less malignant behaviour than common large bowel carcinomas. Subsequently it became a common name for…
The adrenal glands
Anatomy The adrenal glands are retroperitoneal structures weighing approximately 5–7 g that have a characteristic golden colour due to cholesterol in their cortex (see Fig. 3.1 ). Their position and…
