Book Review

Genetics in Endocrinology

N Engl J Med 2002; 347:1897December 5, 2002

Article

Genetics in Endocrinology
(Modern Endocrinology Series.) Edited by John D. Baxter, Shlomo Melmed, and Maria I. New. 763 pp., illustrated. Philadelphia, Lippincott Williams & Wilkins, 2002. $169. ISBN: 0-7817-1496-6

Genetics, until recently the domain of molecular biologists, mathematicians, anthropologists, forensic scientists, pediatricians, and families concerned about rare and esoteric diseases, today captures the imagination of a wide spectrum of basic scientists and clinicians. The principal reasons for this remarkable shift are the explosion of new knowledge about the genetic basis of numerous diseases, the rapid progress in sequencing and assembling the human and mouse genomes, and the insights gained from transgenic and gene-knockout animals. The clarity that modern molecular genetics has brought to our understanding of the nature and causation of previously obscure syndromes is stunning. The mysteries of diseases that have resisted comprehension for decades are falling like dominoes before advances in recombinant-DNA and gene-sequencing technology. One need only open the pages of a journal such as Nature Genetics to witness the weekly discoveries of new genetic mechanisms that are responsible for previously baffling diseases. Familiarity with genetics, therefore, must become part of every physician's knowledge base. Endocrinology is no exception in this explosion of new knowledge. Thus, Genetics in Endocrinology serves a timely and important purpose in illuminating the role of genes and their products in normal and abnormal hormone biology.

This book is one of a triad of books entitled “Modern Endocrinology,” with one of the other two books devoted to hormone resistance and hypersensitivity states and the other to autoimmune endocrine disorders. Having also reviewed the former of these two books, I can attest to the high quality of the series. Genetics in Endocrinology is a treatise of modern endocrinology, with a special focus on genetics. However, it is much more than a genetics treatise. It discusses not only genes and their mutations, but also hormonal mechanisms, how they are disrupted by alterations in their genes, the pathology that ensues, and the clinical phenotype. The chapters are written by well-known experts, who are, first and foremost, endocrinologists rather than geneticists by training. As a consequence, the book's orientation is toward pathophysiology and mechanisms of disease, rather than being narrowly focused on genetics. This characteristic makes the book very useful for a general medical readership.

Genetics in Endocrinology contains 33 chapters, organized primarily according to gland, hormone, organ system, or disease category. Four of the chapters deal with fundamental topics, such as general genetic principles, laboratory evaluation and genetic screening, transgenic and knockout animals, and gene therapy. Specific topics range from the genetics of type 1 diabetes mellitus to those of sex determination. All of the classic endocrine glands and hormonal systems are covered in detail (some nonclassic ones, such as heart, kidney, and gut, are not included). Examples of particular topics are pituitary tumors, thyroid autoimmune disease, congenital adrenal hyperplasia, diabetes insipidus, and parathyroid disorders. Conditions that involve multiple organs, such as diabetes mellitus, obesity, hormone-sensitive cancers, or the multiple endocrine neoplasia syndromes, are also represented. The diversity of diseases, even within a single endocrine gland, that can result from alterations in the genome is aptly described and makes the book very stimulating to read. Many chapters begin with an overview of the normal molecular biology, biochemistry, physiology, and developmental program for a given endocrine gland or system. This overview is followed by a description of known mutations and the resulting disorders, with particular attention to the mechanisms leading to the phenotype. The discussion then proceeds to diagnostic and screening strategies, the natural history of the disease and its manifestations, and finally therapeutic considerations, all with an eye on the underlying genetic lesion. This integrated approach is one of the strengths of the book, which successfully achieves the transition from the minute genetic detail to the overall picture — another characteristic that renders the book useful for a general medical audience. The writing style is universally clear, concise, and readable. Each chapter is extensively referenced.

If there is one shortcoming, it is that the book is already out of date. This is inevitable, given the breakneck pace of new discoveries in this discipline. Judging by the omission of recent discoveries, I estimate that the final writing of the chapters took place about two years ago, although the datedness seems to vary a bit from chapter to chapter. However, this minor deficiency does not detract from the overall value of the book, since in most cases its conceptual content is not altered by the newer findings. The rapid obsolescence befalling textbooks nevertheless illustrates the need for electronic data bases that can be frequently updated — such as Online Mendelian Inheritance in Man, or OMIM (http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=OMIM) — to complement the traditional monograph.

I thoroughly enjoyed reading Genetics in Endocrinology and learned quite a bit in the process. I highly recommend it to any physician or scientist interested in endocrinology. It is an authoritative, rich, and eminently readable source of information about the effects of genes on the endocrine system and beyond. Because endocrinology is such a broad discipline, and also because hormones influence metabolic and developmental processes far beyond what is known as classic endocrinology, the book is also well suited for the generalist interested in the scientific basis of mammalian biology and medicine.

Gerhard Baumann, M.D.
Northwestern University, Chicago, IL 60611