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Inborn errors of metabolism
536
THE JOURNAL OF PEDIATRICS
background of these rather poorly understood conditions. I n this respect, the first chapter, :'Embryonic Sexual Differentiations" is well summarized and clearly presented. This book brings one up to date on methods of diagnosis (including chromosomal sex differentiation), the endocrine and surgical aspects of treatment, tile selection of sex, and, last but not least, the psychiatric and emotional (psychosexual) aspects in the management of patients with problems of sexual differentiation. In the section concerning background of intersexuality, the following clinical conditions are discussed: The origin of the concept of hermaphroditism in Greco-lgoman culture, embryonic sexual differentiation, the criteria of sex, and principles of treatment. The clinical conditions are discussed in a clear, concise, and well-organized manner, with good coverage of the literature. The following outline is followed: (1) general considerations, (2) clinical characteristics, (3) laboratory findings, (4) pathological findings and changes, (5) pathogenesis, (6) treatment. There are well-documented case reports. Excellent illustrations, diagrams, and sketches are abundant. The following conditions are discussed: gonadal aplasia (dysplasia), Xlinefelter's syndrome, hermaphroditismus verus, male hermaphroditism, female hermaphroditism due to congenital adrenal hyperplasia (adrenogenital syndrome), and female hermaphroditism without virilization. Conditions with genital anomalies which simulate hermaphroditism include: cryptorchidism, hypospadias, and anomalies of the vulva and vagina. Discussions of gonadal tumors with sex reversal are classified as follows: masculinizing tumors of the ovary and endocrine tumors of the testis. This book, when placed alongside the text, Diagnos~s and Treatment of Endocrine D~sofders in I n f a n c y and Adolesence, by Lawson Wilkins, a well-recognized pediatric endocrinologist, also from Johns Hopkins University, will demonstrate considerable overlapping. In many respects, however, in the field of abnormalities o f gonadal development, Dr. ~u very excellent contribution will be complemented.
James
N. E t t e l d o r f
Inborn Errors of Metabolism. David YiYung tIsia, Chicago, 1959, The Year Book Publishers, Inc., 358 pages. Price $9.50. :Books should always be reviewed with a clear knowledge of the aims of the author and of the audience for whom the book is intended. Dr. Hsia specifically states in the preface that : ' i t is hoped that this volume will be helpful to the general practitioner and the house officer when they next come face to face with a patient who has a hereditary dlsease." Furthermore, in the foreword Dr. Gellis clearly states that 'Cthe present volume has been designed to review basic concepts and clinical aspects for the physician who is neither a geneticist nor enzyme chemist." This text has successfully accomplished both these objectives, and it should not be surprising that there is little information that is not covered in most standard pediatric texts. Approximately 70 genetically determined disorders are covered. The clinical features, heredity, pathogenesis, diagnosis, and treatment are briefly considered for each disorder. A typical family pedigree chosen from the literature depicts the heredity of each condition and many charts are used to portray the ' : p r i m a r y gene e f f e c t " as well as the site of metabolic block. The text is clear and concise and the format pleasing and attractive. The references are selected for their importance and are generally up to date. A 55-page appendix of laboratory procedures is intended to "act as a readily available laboratory manual for their use in the detection of these conditions." The procedures described vary from a test for sickling to fluorescence microscopy, from the Lee-White clotting time to column chromatography for determination of amino acids, from the out-dated stool trypsin test to the elegant determination of galactose-l-P04 uridyl transferase activity. Many of the simple determinations are so universally available that there is little need to detail them and many of the more complex procedures are beyond the facilities and training available to most " g e n e r a l practitioners and house officers." .The author admits that : ' a book of this nature must, of necessity~ be incomplete, and many important things have had to be left o u t , " but it seems to this reviewer that the appendix
nooks could have been sacrificed a n d some of t h e more ' Cimportant ' ' s u b j e c t m a t t e r could h a v e been included. T h e r e a r e some errors b u t t h e y do n o t d e t r a c t f r o m t h e g e n e r a l u s e f u l n e s s of t h e book. ~ o r i n s t a n c e , oll p a g e 161, Sir Will i a m Osier is g i v e n credit f o r h a v i n g first d e s c r i b e d a specific t y p e of e r e t i n i s m w h i c h results w h e n t h e r e is f a i l u r e of d e i o d i n a t i o n of iodotyrosines. I t is obvious t h a t Osler could n o t have k n o w n t h i s t y p e of goitrous c r e t i n i s m f r o m a n y other t y p e in 1897. IIe did, howeve% reveal t h a t 7 of 60 collected eases of sporadic c r e t i n i s m were goitrous.
537
Oa page 171 in a discussion of the salt-losing form of adrenal hyperplasia it is suggested that there may be a dei~.eiency of ~desoxycorticosterone ~' when aldosteroue is obviously intended. On page 172 in the discussion of treatment of adrenal hyperplasi G ~eorticotropins" is erroneously used in place of the term~ cortieosteroids. For the purpose inte~ded~ this book is adequate. However, the physician whose interest is more than a superficial one is referred to t h e r a p i d l y a c c u m u l a t i n g l i t e r a t m ' e on t h e subject. Angelo M. DiGeorge
THE JOURNAL OF PEDIATRICS
background of these rather poorly understood conditions. I n this respect, the first chapter, :'Embryonic Sexual Differentiations" is well summarized and clearly presented. This book brings one up to date on methods of diagnosis (including chromosomal sex differentiation), the endocrine and surgical aspects of treatment, tile selection of sex, and, last but not least, the psychiatric and emotional (psychosexual) aspects in the management of patients with problems of sexual differentiation. In the section concerning background of intersexuality, the following clinical conditions are discussed: The origin of the concept of hermaphroditism in Greco-lgoman culture, embryonic sexual differentiation, the criteria of sex, and principles of treatment. The clinical conditions are discussed in a clear, concise, and well-organized manner, with good coverage of the literature. The following outline is followed: (1) general considerations, (2) clinical characteristics, (3) laboratory findings, (4) pathological findings and changes, (5) pathogenesis, (6) treatment. There are well-documented case reports. Excellent illustrations, diagrams, and sketches are abundant. The following conditions are discussed: gonadal aplasia (dysplasia), Xlinefelter's syndrome, hermaphroditismus verus, male hermaphroditism, female hermaphroditism due to congenital adrenal hyperplasia (adrenogenital syndrome), and female hermaphroditism without virilization. Conditions with genital anomalies which simulate hermaphroditism include: cryptorchidism, hypospadias, and anomalies of the vulva and vagina. Discussions of gonadal tumors with sex reversal are classified as follows: masculinizing tumors of the ovary and endocrine tumors of the testis. This book, when placed alongside the text, Diagnos~s and Treatment of Endocrine D~sofders in I n f a n c y and Adolesence, by Lawson Wilkins, a well-recognized pediatric endocrinologist, also from Johns Hopkins University, will demonstrate considerable overlapping. In many respects, however, in the field of abnormalities o f gonadal development, Dr. ~u very excellent contribution will be complemented.
James
N. E t t e l d o r f
Inborn Errors of Metabolism. David YiYung tIsia, Chicago, 1959, The Year Book Publishers, Inc., 358 pages. Price $9.50. :Books should always be reviewed with a clear knowledge of the aims of the author and of the audience for whom the book is intended. Dr. Hsia specifically states in the preface that : ' i t is hoped that this volume will be helpful to the general practitioner and the house officer when they next come face to face with a patient who has a hereditary dlsease." Furthermore, in the foreword Dr. Gellis clearly states that 'Cthe present volume has been designed to review basic concepts and clinical aspects for the physician who is neither a geneticist nor enzyme chemist." This text has successfully accomplished both these objectives, and it should not be surprising that there is little information that is not covered in most standard pediatric texts. Approximately 70 genetically determined disorders are covered. The clinical features, heredity, pathogenesis, diagnosis, and treatment are briefly considered for each disorder. A typical family pedigree chosen from the literature depicts the heredity of each condition and many charts are used to portray the ' : p r i m a r y gene e f f e c t " as well as the site of metabolic block. The text is clear and concise and the format pleasing and attractive. The references are selected for their importance and are generally up to date. A 55-page appendix of laboratory procedures is intended to "act as a readily available laboratory manual for their use in the detection of these conditions." The procedures described vary from a test for sickling to fluorescence microscopy, from the Lee-White clotting time to column chromatography for determination of amino acids, from the out-dated stool trypsin test to the elegant determination of galactose-l-P04 uridyl transferase activity. Many of the simple determinations are so universally available that there is little need to detail them and many of the more complex procedures are beyond the facilities and training available to most " g e n e r a l practitioners and house officers." .The author admits that : ' a book of this nature must, of necessity~ be incomplete, and many important things have had to be left o u t , " but it seems to this reviewer that the appendix
nooks could have been sacrificed a n d some of t h e more ' Cimportant ' ' s u b j e c t m a t t e r could h a v e been included. T h e r e a r e some errors b u t t h e y do n o t d e t r a c t f r o m t h e g e n e r a l u s e f u l n e s s of t h e book. ~ o r i n s t a n c e , oll p a g e 161, Sir Will i a m Osier is g i v e n credit f o r h a v i n g first d e s c r i b e d a specific t y p e of e r e t i n i s m w h i c h results w h e n t h e r e is f a i l u r e of d e i o d i n a t i o n of iodotyrosines. I t is obvious t h a t Osler could n o t have k n o w n t h i s t y p e of goitrous c r e t i n i s m f r o m a n y other t y p e in 1897. IIe did, howeve% reveal t h a t 7 of 60 collected eases of sporadic c r e t i n i s m were goitrous.
537
Oa page 171 in a discussion of the salt-losing form of adrenal hyperplasia it is suggested that there may be a dei~.eiency of ~desoxycorticosterone ~' when aldosteroue is obviously intended. On page 172 in the discussion of treatment of adrenal hyperplasi G ~eorticotropins" is erroneously used in place of the term~ cortieosteroids. For the purpose inte~ded~ this book is adequate. However, the physician whose interest is more than a superficial one is referred to t h e r a p i d l y a c c u m u l a t i n g l i t e r a t m ' e on t h e subject. Angelo M. DiGeorge