inherited disorders of the thyroid system

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American Journal of Medical Genetics 68:489 (1997) © 1997 Wiley-Liss, Inc. Book Review INHERITED DISORDERS OF THE THYROID SYSTEM Geraldo Medeiros-Neto and John Bruton Stanbury Boca Raton, FL: CRC Press, Inc., 1994, pp. 218. Let me start by saying that I am no expert on inher- ited diseases of the thyroid nor do I have any particular qualifications to be a “book reviewer.” I elected to re- view this book to learn more about thyroid disease and, I will admit, to get a free copy of a book that I probably would not buy—not because it is not well written (be- cause it is), but simply because my professional inter- ests and activities steer me toward other publications. I do have a background in cancer genetics and was anx- ious to get this book in hopes of reading good review chapters on familial medullary thyroid carcinoma and MEN II. What a disappointment it was to find that only 4 sentences about these inherited thyroid conditions (page 200, Chapter 11, “Other Inherited Diseases of the Thyroid”) are included in a book titled “Inherited Dis- orders of the Thyroid System,” written by internation- ally recognized endocrinologists Drs. Geraldo Medeiros-Neto and John B. Stanbury. The only other chapter that focuses at all on thyroid malignancies is the 12 page last chapter, Chapter 12—“Thyroid Malig- nancy and the Dyshormonogenic Goiter,” which dis- cusses the risks and pathogenesis of malignancies in congenital goiter associated with hypothyroidism. However, after my initial dismay, I was pleasantly sur- prised when I sat down to read this well-organized text- book that presented excellent written discussions of several inherited thyroid conditions about which I, be- cause of this book, now know more. After Chapter 1, which presents “A Retrospective View of the Inherited Errors of the Thyroid System” (a concise and interesting historical background of our understanding of these conditions), the remaining 11 chapters provide easy-to-follow reviews of several con- ditions that include sections on the clinical aspects, pathophysiology, animal models, and molecular biology (only as current as 1993) as appropriate. Chapters 2–10 are, respectively, titled “Familial Inherited TSH Defi- ciency,” “Congenital Hypothyroidism Associated with Thyrotropin Unresponsiveness,” “The Iodide Transport Defect,” “Defective Organification of Iodide,” “Pendred’s Syndrome: Association of Congenital Deafness with Sporadic Goiter,” “Defects in Tg Gene Expression and Tg Secretion,” “The Iodotyrosine Deiodinase Defect,” “The Syndromes of Reduced Responsiveness to Thyroid Hormone,” and “Inherited Abnormalities in Thyroid Hormone Transport Proteins.” All of the chapters are well referenced, are clearly written, and contain appro- priate, abundant helpful figures and tables. Any of these chapters could securely stand alone as an excel- lent, independent, review paper. Each chapter follows essentially the same easy-to-follow format with excel- lent introductions, outlined summaries of key points, and complete reference lists which include full titles. These organizational features, along with the numer- ous illustrations, help make this book one can easily pick up and read intermittently as time allows. Even if one only has a few moments to look through a chapter, the way this book is structured, it is possible to absorb some useful information in a short amount of time. In summary, for those of us who have little expertise in endocrinology, this is an easy-to-read, well-illus- trated, informative book focusing on several inherited disorders of the thyroid—largely those disorders asso- ciated with abnormal iodide utilization and/or hor- monal function. For those with expertise in this area, the content of this book may be largely of a review na- ture. I do wish that I would have had the excellent chapter reviewing Pendred syndrome available to me during my first year as a clinical genetics fellow when (never having before heard of the syndrome) I had the opportunity to evaluate a girl who presented with deaf- ness, short stature, and hypothyroidism. As I was busy thinking about a differential diagnoses that, in my naiveté, focused largely on chromosomal abnormalities, I was called by the girl’s endocrinologist who wondered why I was looking for a chromosome abnormality in a girl who clearly had Pendred syndrome, an autosomal recessive disorder. Well, needless to say, I have since read a lot about Pendred syndrome and really appreci- ated the great review of it in this book. Despite the fact that I do think it is a shortcoming of the book to omit any significant discussion of MEN II and medullary thyroid carcinoma, I would highly recommend this lit- tle book to individuals who are looking for comprehen- sive, concise reviews of any of the topics included in it. Elizabeth M. Petty Department of Internal Medicine Division of Molecular Medicine and Genetics University of Michigan Medical Center Ann Arbor, Michigan

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Page 1: Inherited disorders of the thyroid system

American Journal of Medical Genetics 68:489 (1997)

© 1997 Wiley-Liss, Inc.

Book Review

INHERITED DISORDERS OF THE THYROID SYSTEM

Geraldo Medeiros-Neto and John Bruton StanburyBoca Raton, FL: CRC Press, Inc., 1994, pp. 218.

Let me start by saying that I am no expert on inher-ited diseases of the thyroid nor do I have any particularqualifications to be a “book reviewer.” I elected to re-view this book to learn more about thyroid disease and,I will admit, to get a free copy of a book that I probablywould not buy—not because it is not well written (be-cause it is), but simply because my professional inter-ests and activities steer me toward other publications.I do have a background in cancer genetics and was anx-ious to get this book in hopes of reading good reviewchapters on familial medullary thyroid carcinoma andMEN II. What a disappointment it was to find that only4 sentences about these inherited thyroid conditions(page 200, Chapter 11, “Other Inherited Diseases of theThyroid”) are included in a book titled “Inherited Dis-orders of the Thyroid System,” written by internation-ally recognized endocrinologists Drs. GeraldoMedeiros-Neto and John B. Stanbury. The only otherchapter that focuses at all on thyroid malignancies isthe 12 page last chapter, Chapter 12—“Thyroid Malig-nancy and the Dyshormonogenic Goiter,” which dis-cusses the risks and pathogenesis of malignancies incongenital goiter associated with hypothyroidism.However, after my initial dismay, I was pleasantly sur-prised when I sat down to read this well-organized text-book that presented excellent written discussions ofseveral inherited thyroid conditions about which I, be-cause of this book, now know more.

After Chapter 1, which presents “A RetrospectiveView of the Inherited Errors of the Thyroid System” (aconcise and interesting historical background of ourunderstanding of these conditions), the remaining 11chapters provide easy-to-follow reviews of several con-ditions that include sections on the clinical aspects,pathophysiology, animal models, and molecular biology(only as current as 1993) as appropriate. Chapters 2–10are, respectively, titled “Familial Inherited TSH Defi-ciency,” “Congenital Hypothyroidism Associated withThyrotropin Unresponsiveness,” “The Iodide TransportDefect,” “Defective Organification of Iodide,” “Pendred’sSyndrome: Association of Congenital Deafness withSporadic Goiter,” “Defects in Tg Gene Expression andTg Secretion,” “The Iodotyrosine Deiodinase Defect,”

“The Syndromes of Reduced Responsiveness to ThyroidHormone,” and “Inherited Abnormalities in ThyroidHormone Transport Proteins.” All of the chapters arewell referenced, are clearly written, and contain appro-priate, abundant helpful figures and tables. Any ofthese chapters could securely stand alone as an excel-lent, independent, review paper. Each chapter followsessentially the same easy-to-follow format with excel-lent introductions, outlined summaries of key points,and complete reference lists which include full titles.These organizational features, along with the numer-ous illustrations, help make this book one can easilypick up and read intermittently as time allows. Even ifone only has a few moments to look through a chapter,the way this book is structured, it is possible to absorbsome useful information in a short amount of time.

In summary, for those of us who have little expertisein endocrinology, this is an easy-to-read, well-illus-trated, informative book focusing on several inheriteddisorders of the thyroid—largely those disorders asso-ciated with abnormal iodide utilization and/or hor-monal function. For those with expertise in this area,the content of this book may be largely of a review na-ture. I do wish that I would have had the excellentchapter reviewing Pendred syndrome available to meduring my first year as a clinical genetics fellow when(never having before heard of the syndrome) I had theopportunity to evaluate a girl who presented with deaf-ness, short stature, and hypothyroidism. As I was busythinking about a differential diagnoses that, in mynaiveté, focused largely on chromosomal abnormalities,I was called by the girl’s endocrinologist who wonderedwhy I was looking for a chromosome abnormality in agirl who clearly had Pendred syndrome, an autosomalrecessive disorder. Well, needless to say, I have sinceread a lot about Pendred syndrome and really appreci-ated the great review of it in this book. Despite the factthat I do think it is a shortcoming of the book to omitany significant discussion of MEN II and medullarythyroid carcinoma, I would highly recommend this lit-tle book to individuals who are looking for comprehen-sive, concise reviews of any of the topics included in it.

Elizabeth M. PettyDepartment of Internal MedicineDivision of Molecular Medicine and GeneticsUniversity of Michigan Medical CenterAnn Arbor, Michigan