The salivary glands
Introduction The salivary glands are composed of paired parotid, submandibular, lingual and several hundred minor salivary glands that are distributed throughout the upper aerodigestive system. Diseases of the salivary glands…
ENDOCRINOLOGY
Familial endocrine disease: genetics, clinical presentation and management
Introduction The diagnosis and management of familial endocrine syndromes epitomises the complex and changing interface between surgery, medicine and molecular genetics. The last decade has seen an explosion in our…
Endocrine tumours of the pancreas
Introduction Pancreatic neuroendocrine tumours (pNETs) are the most common endocrine tumours found in the abdomen. They may be broadly classified into two groups: functional tumours, which cause clinical syndromes due…
The thyroid gland
Background Embryology, surgical anatomy and physiology Embryology The thyroid gland originates from the first pharyngeal arch and begins as an out-pouching of endodermal tissue from the base of the tongue,…
Clinical governance, ethics and medicolegal aspects of endocrine surgery
Clinical governance “Thou wilt learn one piece of Humility, viz. not to trust too much on thine own judgement.” Richard Wiseman ( Severall Chirurgicall Treatises , 1676) We are in…
Genetic Diagnosis of Growth Failure
Abstract Growth hormone (GH) insensitivity can result from molecular defects at multiple levels, including the genes for the GH receptor ( GHR ), signal transducer and activator of transcription (…
Introduction to Applications of Genomic Sequencing
Abstract Since completion of the Human Genome Project in 2001, dynamics in human genetics have greatly accelerated. Sequencing a human genome used to be a multimillion dollar project but is…
Cost-Effectiveness of Genetic Testing for Monogenic Diabetes
Abstract Diagnosing monogenic forms of diabetes provides an opportunity to deliver personalized genetic medicine. The most common monogenic causes of diabetes can be treated with therapeutic options targeted to genetic…
Setting Up a Laboratory
Abstract Whole genome sequencing is not at present cost-effective in most settings. But today’s molecular genetic laboratory can effectively sequence panels of several hundred genes, and even entire exomes without…
Genetic Counseling: The Role of Genetic Counselors on Healthcare Provider and Endocrinology Teams
Abstract This chapter addresses the role of genetic counseling in the diagnosis of hereditary syndromes, particularly hereditary endocrine diseases. Genetic counseling is a communication process that encompasses risk assessment, informed…
