Oxford handbook of endocrinology and diabetes by Helen E Turner; J A H Wass

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G. if HRT is being considered) 339 Hormone replacement therapy (HRT) 340 60 Combined oral contraceptive pill (COCP) 350 Introduction 350 Benefits 352 Risks 352 Practical issues 356 61 Testicular physiology 358 Anatomy 358 Regulation of testicular function 360 Physiology 362 62 Male hypogonadism Definition 364 Epidemiology 364 Secondary hypogonadism 366 Primary hypogonadism 370 Clinical assessment 374 364 DETAILED CONTENTS 63 Androgen replacement therapy 378 Treatment aims 378 Indications for treatment 3 78 Risks and side effects 380 64 Gynaecomastia 382 Definition 382 Evaluation 384 Management 386 65 Erectile dysfunction 388 Definition 388 Physiology of male sexual function 388 Pathophysiology 388 Evaluation 390 Management 394 66 Testicular tumours 398 Epidemiology 398 Risk factors 398 Prognosis 399 67 Infertility 400 Definition 400 Causes 400 Evaluation 402 Management 408 Ovulation induction 472 68 Disorders of sexual differentiation Clinical presentation 416 Evaluation 416 Androgen insensitivity syndrome 418 True hermaphroditism 419 General principles of management 420 416 XXXI xxxii DETAILED CONTENTS 69 Transsexualism 422 Definition 422 Epidemiology 422 Aetiology 422 Management 422 Part 5 Endocrine disorders of pregnancy 70 Thyroid disorders 428 Normal physiology 428 Maternal hyperthyroidism 430 Maternal hypothyroidism 432 Postpartum thyroid dysfunction 433 Thyroid cancer in pregnancy 434 71 Pituitary disorders 436 Normal anatomical changes during pregnancy 436 Normal physiology during pregnancy 436 Prolactinoma in pregnancy 438 Cushing's syndrome 440 Acromegaly 442 Hypopituitarism in pregnancy 444 72 Adrenal disorders during pregnancy 448 Normal changes during pregnancy 448 Addison's disease in pregnancy 449 Congenital adrenal hyperplasia 450 Phaeochromocytoma 451 Part 6 Calcium and bone metabolism 73 Calcium and bone physiology Bone turnover 454 Bone mass during life 454 Calcium 456 454 DETAILED CONTENTS 74 Investigation of bone 458 Bone turnover markers 458 Bone imaging 459 Bone mass measurements 460 Bone biopsy 460 75 Investigation of calcium, phosphate, and magnesium 464 Blood concentration 464 Urine excretion 465 Caicium-regulating hormones 466 76 Hypercalcaemia 468 Epidemiology 468 Causes 468 Clinical features 470 Hyperparathyroidism 472 Treatment 476 Complications of parathyroidectomy 478 Other causes of hypercalcaemia 480 Familial hypocalciuric hypercalcaemia (FHH) 482 Vitamin D intoxication 484 Sarcoidosis 485 77 Hypocalcaemia 486 Causes 486 Clinical features 488 Investigation 490 Treatment 492 78 Rickets and osteomalacia Definitions 494 Clinical features 494 Diagnosis 496 Vitamin D deficiency 498 Hypophosphataemia 502 494 X XXJii xxxiv DETAILED CONTENTS 79 Hypomagnesaemia 504 Introduction 504 Treatment 505 80 Osteoporosis 506 Introduction 506 Pathology 508 Epidemiology 570 Presentation 512 Investigation 514 Treatment 516 Complications of therapy 518 81 Paget's disease 522 Pathology 522 Epidemiology 523 Clinical features 523 Investigation 524 Complications 525 Treatment 526 Monitoring therapy 526 82 Inherited disorders of bone 528 Osteogenesis imperfecta 528 Part 7 Paediatric endocrinology 83 Growth and stature Growth 532 Short stature 536 Genetic short stature 538 Constitutional delay of growth and puberty 538 Growth hormone deficiency 540 Tall stature and rapid growth 548 532 DETAILED CONTENTS 84 Puberty 550 Normal puberty 550 Precocious puberty 552 Delayed/absent puberty 556 85 Sexual differentiation 558 Normal sexual differentiation 558 Assesment of ambiguous genitalia 559 Disorders of sex development (DSD) 560 Congenital adrenal hyperplasia 564 Part 8 Neuroendocrine disorders 86 The neuroendocrine system 568 Introduction 568 87 Carcinoid tumours 570 Definition and classification 570 Incidence 570 Carcinoid syndrome 571 Diagnostic investigations 572 Tumour localization and staging 573 Treatment 574 Prognosis 578 88 Insulinomas 580 Definitions 580 Incidence 580 Clinical presentation 580 Biochemical investigations 580 Tumour localization 581 Treatment 582 Prognosis 582 89 Gastrinomas Definitions 584 Prevalence 584 Clinical presentation 584 584 XXXV XXXVI DETAILED CONTENTS Biochemical investigations 585 Treatment 586 90 Glucagonomas 588 Definitions 588 Incidence 588 Clinical presentation 588 Biochemical investigations 590 Tumour localization 590 Treatment 590 91 VIPomas S92 Definitions 592 Clinical presentation 592 Biochemical investigations 592 Tumour localization 594 Treatment 594 92 Somatostatinomas 596 Definitions 596 Clinical features 596 Biochemical investigations 597 Tumour localization 597 Treatment 597 Part 9 Inherited endocrine syndromes and multiple endocrine neoplasia (MEN) 93 McCune-Albright syndrome 600 Definitions 600 Genetics 600 Clinical features 600 Prognosis 602 94 Neurofibromatosis Definitions 604 NF1 604 604 DETAILED CONTENTS 95 Von Hippel-Lindau disease 606 Definitions 606 Genetics 606 Clinical features 608 Prognosis 608 96 Carney complex 610 Definitions 610 Genetics 610 Clinical presentation 670 97 Cowden syndrome 612 Definitions 612 Genetics 612 Clinical presentation 612 98 POEMS syndrome 614 Definitions 614 Clinical presentation 614 Treatment 614 99 MEN type 1 616 Definitions 616 Genetics 6 7 6 Clinical features 6 7 6 Management 618 Mutational analysis 678 Screening 679 100 MEN type 2 Definitions 622 Genetics 622 Clinical features—MEN2a 624 Clinical features—MEN2b 624 Management 626 Mutational analysis 626 Screening 627 622 XXXVII XXXVIII DETAILED CONTENTS 101 Inherited primary hyperparathyroidism 630 Definitions 630 Causes 630 HPT-JT 630 FIHP 630 102 Inherited renal calculi 632 Definitions 632 Genetics 632 Management 634 Part 10 Misceltaneous endocrinology 103 Hypoglycaemia 636 Definition (Whipple's triad) 636 Epidemiology 636 Pathophysiology 636 Clinical features 640 Management 642 Post-prandial reactive hypoglycaemia (PRH) 644 104 Obesity 646 Definition 646 Epidemiology 646 Aetiology 648 Pathophysiology 648 Consequences of obesity 650 Evaluation of an obese patient 651 Investigations 652 Management 654 105 Endocrinology and ageing Introduction 660 Fluid and electrolyte homeostasis in the elderly 660 Bone disease 662 GH and IGF-1 in the elderly 664 Gonadal function in the elderly 666 660 DETAILED CONTENTS Adrenal function in the elderly 668 Thyroid disease 670 106 Endocrinology of critical illness 674 Endocrine dysfunction and AIDS 674 Cancer 680 Syndromes of ectopic hormone production 682 Liver disease 688 Renal disease 690 Endocrinology in the critically ill 692 107 Perioperative management of endocrine patients 696 Trans-sphenoidal surgery/craniotomy 696 Thyroidectomy 700 Parathyroidectomy 702 Phaeochromocytoma 704 108 Syndromes of hormone resistance 706 Definition 706 Thyroid hormone resistance 706 Androgen resistance 706 Glucocorticoid resistance 706 ACTH resistance 707 Mineralocorticoid resistance 707 Differential diagnosis of possible manifestations of endocrine disorders 708 109 Stress and the endocrine system 712 Definition 712 Endocrine effects of stress 712 Metabolism 773 110 Alternative or complementary therapy and endocrinology Introduction 714 Alternative therapy used in patients with diabetes mellitus 716 Alternative therapy used in menopause 718 Alternative therapy used by patients with osteoporosis 720 Miscellaneous 722 714 xxxix xl DETAILED CONTENTS Part 11 Diabetes 111 Classification and diagnosis 724 Background 724 Diagnosis 724 Classification 726 Genetics 728 112 General management and treatment 732 Background 732 Assessment of the newly diagnosed patient 732 Dietary advice 733 Oral hypoglycaemic agents 734 Insulin 740 113 Diabetic eye disease 746 Epidemiology 746 Clinical features and histological features 748 Eye screening 750 Treatment 752 Surgical treatment 754 114 Diabetic renal disease 756 Background 756 Definition 756 Epidemiology 756 Making the diagnosis 758 Pathology 758 Pathogenesis 759 Natural history 760 Treatment 762 115 Diabetic neuropathy Definition 766 Pathology 766 Pathogenesis 767 Peripheral sensorimotor neuropathy 768 Autonomic neuropathy 772 766 DETAILED CONTENTS 116 Macrovascular disease 776 Epidemiology 776 Pathogenesis 777 Lipid abnormalities found in patients with diabetes 778 Hypertension 782 117 Diabetic foot 786 Risk factors for foot ulcer development 786 Treatment 788 118 Diabetes and pregnancy 792 Background 792 Risks 792 Known diabetics and pregnancy 794 Gestational diabetes 798 119 Intercurrent events or disease 802 Surgery 802 Skin/connective tissue/joint disease 806 120 Social and practical aspects 808 Current regulations for fitness to drive motor vehicles 808 Complications from diabetes and driving 812 121 Emergencies in diabetes 814 Diabetic ketoacidosis 814 Hyperosmolar, non-ketotic hyperglycaemia 818 Hypoglycaemia 820 Part 12 Lipids and hyperlipidaemia 122 Lipids and coronary heart disease Physiology 824 Pathogenesis 826 Atherosclerosis 826 CHD/atherosclerosis risk factors 826 Assessment of CHD risk 828 Individuals at risk with hyperlipidaemia 832 824 xlj x ljj DETAILED CONTENTS 123 Primary hyperlipidaemias 834 Background 834 Polygenic hypercholesterolaemia 834 Familial hypercholesterolaemia (FH) 834 Clinical characterization 835 Familial defective apolipoprotein B-100 (FOB) 836 Familial hypertrigyceridaemia 836 Rare genetic hypertriglyceridaemias 836 Familial combined hyperlipidaemia (FCHL) 837 Familial dysbetalipoproteinaemia 838 Rare familial mixed dyslpidaemias 838 124 Secondary hyperlipidaemias 840 Background 840 Causes 840 125 Management of dyslipidaemia 842 Background 842 Primary and secondary prevention 842 Drug therapy 844 Aims of treatment 852 Part 13 Endocrine and diabetes nursing and dietetics 126 Endocrine and diabetes nursing 854 Insulin regimens 854 Injection technique: practical advice 855 Continuous subcutaneous insulin infusion (CSII) 856 Travel 857 Hypoglycaemia 858 Pituitary function: dynamic tests 859 Education of the patient 860 127 Nutrition Dietary treatment of endocrine disorders 862 Diabetes 862 Hyperlipidaemia 863 862 DETAILED CONTENTS Pol/cystic ovary syndrome 864 Amenorrhea 865 Reactive hypoglycaemia 865 Physical activity 866 Weight management 866 Part 14 Laboratory endocrinology 128 Pitfalls in laboratory endocrinology 868 Introduction 868 Pre-analytical factors 870 Analytical factors 872 Post-analytical factors 873 129 Reference intervals 874 Introduction 874 Thyroid function 875 Adrenal and gonadal function 876 Pituitary hormones 877 Bone biochemistry 878 Plasma gastrointestinal and pancreatic hormones 879 Tumour markers 879 Urinary collections 880 Appendix Patient support groups and other endocrine organizations Useful addresses (UK) 882 Useful addresses overseas 883 Useful web sites 884 Index 885 882 x [jjj This page intentionally left blank Parti Thyroid 1 Anatomy and physiology of the thyroid 2 Thyroid investigations 2 3 Thyrotoxicosis 18 8 4 Graves' ophthalmopathy, dermopathy, and acropachy 42 5 Multinodular goitre and solitary adenomas 48 6 Thyroiditis 52 7 Hypothyroidism 56 8 Amiodarone and thyroid function 9 Thyroid cancer 66 70 2 CHAPTER 1 Anatomy of the thyroid Anatomy and physiology of the thyroid Anatomy The thyroid gland comprises • A midline isthmus lying horizontally just below the cricoid cartilage.

Maternal TRH readily crosses the placenta, maternal TSH and4 do T not. • T4from the fetal thyroid is the major thyroid hormone available to the fetus. The fetal pituitary-thyroid axis is a functional unit distinct from that of the mother—active at 18-20 weeks. ANATOMY Thyroid examination Inspection • Look at the neck from the front. If a goitre (enlarged thyroid gland of whatever cause) is present, the patient should be asked to swallow a mouthful of water. The thyroid moves up with swallowing.

Differential diagnosis includes TSH-secreting pituitary tumour. • Most cases require no treatment. If needed it is usually B-adrenergic blockers to ameliorate some of the tissue effects of raised thyroid hormone levels. 4. individuals). Screening for thyroid disease1 The following categories of patients should be screened for thyroid disease: • Patients with atrial fibrillation or hyperlipidaemia. • Periodic (6-monthly) assessments in patients receiving amiodarone and lithium. • Annual check of thyroid function in the annual review of diabetic patients.