Handbook of Endocrine Investigations in Children

By I. A. Hughes

Handbook of Endocrine Investigations in Children serves as a guide to general pediatricians in the investigation of childhood disorders. This book discusses the widespread availability of commercially prepared growth hormone by recombinant DNA technology. Organized into eight chapters, this book begins with an overview of the general principles of endocrine testing in children. This text then explores the anterior pituitary gland, which secretes several hormones, including growth hormones, thyroid stimulating hormone, adrenocorticotrophin, prolactin, luteinizing hormone, and follicle-stimulating hormone. Other chapters consider the thyroid function, which is divided into thyroid profile and definitive tests. This book discusses as well the investigations required to determine the causes of hypo-or hypercalcemia associated with either parathyroid disease or disordered vitamin D metabolism. The final chapter deals with the potential application of the methods of molecular biology to the study of endocrine diseases in children. This book is a valuable resource for general pediatricians, pediatric endocrinologists, and endocrinologists.

• Language: English
• Publisher: Elsevier Science
• Release date: Oct 22, 2013
• ISBN: 9781483183527

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Handbook of Endocrine Investigations in Children

I.A. HUGHES, MD, FRCP, FRCP(C)

Reader in Paediatric Endocrinology, University of Wales College of Medicine, Cardiff

Professor-Elect of Paediatrics, University of Cambridge

WRIGHT

Table of Contents

Cover image

Title page

Handbooks of Investigation in Children

Copyright

PREFACE TO REVISED REPRINT

LIST OF ABBREVIATIONS

FOREWORD

Chapter 1: General Principles of Endocrine Tests

Publisher Summary

RANDOM OR DYNAMIC TESTS

PREPARING THE CHILD

COLLECTION OF BLOOD SAMPLES

COLLECTION OF URINE SAMPLES

COLLECTION OF SALIVA SAMPLES

LABELLING AND PROCESSING OF SAMPLES

HORMONE ASSAYS

NORMAL RANGES FOR HORMONE CONCENTRATIONS

Chapter 2: The Pituitary

Publisher Summary

GROWTH HORMONE

THYROID STIMULATING HORMONE

PROLACTIN

ADRENOCORTICOTROPHIN

GONADOTROPHIN-RELEASING HORMONE

ANTIDIURETIC HORMONE

COMBINED TEST OF ANTERIOR AND POSTERIOR PITUITARY FUNCTION

THE SHORT CHILD WITH POSSIBLE GH DEFICIENCY

1. DIAGNOSIS: DELAYED PUBERTY (MALE)

2. DIAGNOSIS: DELAYED PUBERTY (MALE)

19. DIAGNOSIS: EXTREME SHORT STATURE (non-endocrine cause) RING Y-CHROMOSOME ANOMALY

Chapter 3: The Thyroid

Publisher Summary

THYROID PROFILE

DEFINITIVE TESTS

THYROID ULTRASOUND

SUGGESTED PROTOCOL FOR INVESTIGATION OF CONGENITAL HYPOTHYROIDISM

1. DIAGNOSIS: CONGENITAL HYPOTHYROIDISM ECTOPIC SUBLINGUAL THYROID

2. DIAGNOSIS: CONGENITAL HYPOTHYROIDISM FALSE POSITIVE CREATINE KINASE TEST

3. DIAGNOSIS: PRIMARY HYPOTHYROIDISM DYSHORMONOGENESIS

4. DIAGNOSIS: PRIMARY HYPOTHYROIDISM AUTO-IMMUNE THYROIDITIS

5. DIAGNOSIS: AUTO-IMMUNE THYROIDITIS (HASHIMOTO’S). ALOPECIA AREATA

6. DIAGNOSIS: HYPERTHYROIDISM (GRAVEs’ DISEASE)

Chapter 4: Calcium, Parathyroid, Vitamin D

Publisher Summary

HYPOCALCAEMIA

HYPERCALCAEMIA

CALCITONIN

CASE ILLUSTRATIONS

1. DIAGNOSIS: PRIMARY HYPERPARATHYROIDISM PARATHYROID ADENOMA

2. DIAGNOSIS: VITAMIN D RESISTANT (HYPOPHOSPHATAEMIC) RICKETS

3. DIAGNOSIS: PSEUDO-HYPOPARATHYROIDISM

Chapter 5: The Adrenal Gland

Publisher Summary

ADRENAL CORTEX

TESTS OF ADRENOCORTICAL FUNCTION (GLUCOCORTICOIDS)

TESTS OF ADRENOCORTICAL FUNCTION (MINERALOCORTICOIDS)

ADRENAL MEDULLA

1. DIAGNOSIS: PITUITARY-DEPENDENT CUSHING’S DISEASE

2. DIAGNOSIS: SIMPLE EXOGENOUS OBESITY

3. DIAGNOSIS: ADDISON’S DISEASE

4. DIAGNOSIS: SALT-LOSING CONGENITAL ADRENAL HYPERPLASIA (MALE) 21-HYDROXYLASE DEFICIENCY

5. DIAGNOSIS: SALT-LOSING CONGENITAL ADRENAL HYPERPLASIA 21-HYDROXYLASE DEFICIENCY

6. DIAGNOSIS: LATE-ONSET CONGENITAL ADRENAL HYPERPLASIA

7. DIAGNOSIS: CONGENITAL ADRENAL HYPERPLASIA 11 β-HYDROXYLASE DEFICIENCY

8. DIAGNOSIS: PHAEOCHROMOCYTOMA

Chapter 6: The Gonads

Publisher Summary

TESTIS

OVARY

DISORDERS OF SEXUAL DIFFERENTIATION

1. DIAGNOSIS: BILATERAL TESTICULAR TORSION PRIMARY HYPOGONADISM

2. DIAGNOSIS: BILATERAL CRYPTORCHIDISM

3. DIAGNOSIS: ISOLATED MICROPENIS

4. DIAGNOSIS: ISOLATED MICROPENIS

5. DIAGNOSIS: PUBERTAL GYNAECOMASTIA

6. DIAGNOSIS: COMPLETE ANDROGEN INSENSITIVITY SYNDROME ANDROGEN-RECEPTOR NEGATIVE

7. DIAGNOSIS: PARTIAL ANDROGEN INSENSITIVITY SYNDROME ANDROGEN-RECEPTOR POSITIVE

8. DIAGNOSIS: AMBIGUOUS GENITALIA MIXED GONADAL DYSGENESIS

9. DIAGNOSIS: DELAYED PUBERTY (FEMALE) RADIATION-INDUCED PRIMARY OVARIAN FAILURE

10. DIAGNOSIS: ACUTE MYELOID LEUKAEMIA SECONDARY LYMPHOMA RADIATION-INDUCED PRIMARY OVARIAN FAILURE

11. DIAGNOSIS: PREMATURE THELARCHE

12. DIAGNOSIS: PREMATURE THELARCHE

13. DIAGNOSIS: IDIOPATHIC HIRSUTISM

Chapter 7: The Endocrine Pancreas

Publisher Summary

HYPERGLYCAEMIA

HYPOGLYCAEMIA

1. DIAGNOSIS: PERSISTENT NEONATAL HYPOGLYCAEMIA NESIDIOBLASTOSIS

2. DIAGNOSIS: INSULIN-DEPENDENT DIABETES MELLITUS

3. DIAGNOSIS: SEVERE DIABETIC KETOACIDOSIS HYPERLIPAEMIA

Chapter 8: The Molecular Biology of Endocrine Disease

Publisher Summary

SAMPLES

ENDOCRINE DISORDERS

NORMAL VALUES

INDEX

Handbooks of Investigation in Children

This is a series of unique guides to the appropriate tests to be carried out in children with suspected disorders. Instructions for the performance and evaluation of tests are clearly explained. Each title is based on the authors’ personal experience in the respective field and is devoted to the investigation of children only.

Careful reference to these titles in clinical practice will help both to eliminate inadequate testing and to ensure that the practitioner will obtain the maximum information from the investigations carried out. To amplify the explicit text, case histories helpfully illustrate how the authors have used and interpreted investigations. These pocket-sized books are essential tools for all those involved in the diagnosis and management of childhood disorders.

Other titles

Handbook of Haematological Investigations in Children

R. F. Stevens

Handbook of Neurological Investigations in Children

C. M. Taylor and S. Chapman

Handbook of Renal Investigations in Children

J. B. P. Stephenson and M. D. King

Copyright

Wright

is an imprint of Butterworth Scientific

PART OF REED INTERNATIONAL P.L.C.

All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means (including photocopying and recording) without the written permission of the copyright holder except in accordance with the provisions of the Copyright Act 1956 (as amended) or under the terms of a licence issued by the Copyright Licensing Agency Ltd, 33–34 Alfred Place, London, England WC1E 7DP. The written permission of the copyright holder must also be obtained before any part of this publication is stored in a retrieval system of any nature. Applications for the copyright holder’s written permission to reproduce, transmit or store in a retrieval system any part of this publication should be addressed to the Publishers.

Warning: The doing of an unauthorised act in relation to a copyright work may result in both a civil claim for damages and criminal prosecution.

This book is sold subject to the Standard Conditions of Sale of Net Books and may not be re-sold in the UK below the net price given by the Publishers in their current price list.

First published 1986

Reprinted with revisions 1989

© Butterworth & Co. (Publishers) Ltd, 1986

British Library Cataloguing in Publication Data

Hughes, I. A.

Handbook of endocrine investigations in children.

1. Paediatric endocrinology 2. Endocrine glands—Diseases—Diagnosis

I. Title

618.92′40′75 RJ418

ISBN 0–7236–0719–2

Typeset by

Severntype Repro Services Ltd,

The Abbey Business Park, Kingswood, Wotton-under-Edge, Glos.

Printed in Great Britain by

Courier International Ltd, Tiptree, Essex

PREFACE TO REVISED REPRINT

Barely three years after it was first launched, this Handbook appears in a revised reprint to complement the publication of an initial trio (Nephrology, Haematology, Neurology) in a planned series of Handbooks to guide general paediatricians in the investigation of childhood disorders. Experience has shown that the prime objective of such Handbooks is to continue to ensure children are investigated using appropriate tests to produce the maximum information with a minimum of discomfort.

The majority of the changes in the Handbook are confined to the chapter on the Pituitary, particularly in relation to growth hormone secretion. The widespread availability of commercially prepared growth hormone by recombinant DNA technology means that specialized growth clinics are no longer the sole distributors of this hormone for treatment purposes. The non-specialist will more often be deciding which child should receive growth hormone treatment. It is essential to emphasise again the importance of assessing growth velocity accurately in the first instance before embarking on a programme of investigation.

The case illustrations have been retained in their previous format. They demonstrate best which tests should be performed and how the results are to be interpreted. Progress in clinical investigation and research nowadays cannot avoid the science of molecular biology; this is acknowledged by the inclusion of a brief chapter which describes how samples for DNA are obtained and which endocrine disorders can currently be investigated by this technique. No doubt the approach to the investigation of many genetic endocrine disorders will radically alter as more is learned about the human genome.

I.A. Hughes

1989

LIST OF ABBREVIATIONS

FOREWORD

Professor

R. Hall,     Professor of Medicine, University of Wales College of Medicine

I am very pleased to write an introduction to this first edition of a Handbook of Endocrine Tests in Children. Dr I. A. Hughes is well qualified to produce this book. He graduated at the Welsh National School of Medicine and furthered his endocrine training both in this country and in North America He gained particular insight into the field of steroid biochemistry during his studies at the Tenovus Institute. He is an acknowledged expert in the field of neonatal endocrinology, particularly in the diagnosis and management of disorders of sexual differentiation.

The subject of endocrine tests is complex and, in some areas, controversial. As new hormones are identified new possibilities in testing emerge. For example, with the availability of growth hormone-releasing factor and corticotrophin-releasing factor we now have the ability to test GH and ACTH release directly. Most new tests are established in adults and their application to children needs close liaison between the paediatrician and the adult endocrinologists. In Cardiff, at the University of Wales College of Medicine, close links exist between the author and a large group of basic and clinical endocrinologists including Dr J. Picton Thomas (adrenal); Dr M. F. Scanlon (neuro-endocrinology), Professor R. Hall, Dr J. Lazarus and Dr A. McGregor (thyroid), Dr S. Woodhead (parathyroid and calcium), and Professor K. Griffiths (steroid biochemistry). It is from these frequent contacts that Dr Hughes’ endocrine approach has developed and