Genetic Disorders of Human Sexual Development
Oxford University Press, 1999 - Medical - 410 pages
There have been many exciting advances in our understanding of mammalian sex determination and differentiation in the last decade. Using these advances to elucidate clinical conditions of abnormal sexual development, the authors bring together great expertise in molecular endocrinology, molecular genetics, and dysmorphology. The text begins with a discussion of normal gonadal and sexual development that presents enough embryology, biochemistry, and endocrinology to make the remaining chapters easy to assimilate. Then the authors discuss overarching clinical issues that are common to genetic abnormalities of gonadal and sexual development, providing a detailed account of genetic causes of gonadal maldevelopment, followed by a compendium of the singular, syndromal, endocrinologic, and systemic-metabolic genetic causes of sexual maldevelopment. The final section describes genetic forms of gamete failure.
Seldom dogmatic, this unconventional textbook frequently presents alternatives, highlights speculation, raises questions, and attempts to provide answers. Yet it will be a uniquely valuable reference on an area of genetic medicine where much has happened in recent years. This book will be welcomed by medical geneticists, genetic counselors, endocrinologists, gynecologists, urologists, and students who need fully-referenced information about the genetic aspects of humans sexual maldevelopment in order to better manage their patients and their patients families.
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The Embryology of Normal Gonadal and Genital Development
Sex Chromosome and Autosome Contributions to Normal Gonadal
Introductory Biochemistry and Endocrinology of Sexual Development
The Clinical Approach to Genetic Abnormalities of Gonadal and Sexual
Y Chromosome Aberrations
Absence of the Gonads
Genetic Disorders of the AntiMüllerian Hormone AMH and
Genetic Disorders of Sex Hormone Sensitivity
Syndromes with Sexual Maldevelopment
NonSyndromal Abnormalities of Sexual Development in Males
Systemic Disorders of Sexual Development with Gonadal Dysfunction
Teratogenic Causes of Sexual Maldevelopment
Genetic Disorders of Gamete Delivery
Autosomal Genomic and Chromosomal Disorders with Meiotic
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abnormalities activity adrenal affected females affected males androgen receptor anomalies aromatase associated autosomal dominant autosomal recessive cause Chapter cholesterol chromosome Clin Endocrinol Metab Clin Genet Clinical and Imaging colleagues congenital cryptorchidism DAX1 defects deficiency deletion described differentiation disease disorder distal drome duct dysplasia encodes enzyme estrogen exon expression external genitalia factor fertility fetal Fryns function gene genital germ cells GnRH gonadal dysgenesis gonadotropin growth gynecomastia hormone Hum Genet Hum Mol Genet human hypoplasia hypoplastic hypospadias infertility karyotype levels Leydig cell malformations mental retardation mice micropenis molecular mosaicism mouse Müllerian mutations Nat Genet normal ovarian ovary patients Pediatr phenotype pituitary precocious puberty protein pseudohermaphroditism REFERENCES region renal reported sequence Sertoli cells serum sex determination sex reversal sexual short stature sibs spermatogenesis steroid studies testicular testis testosterone transcription translocation trisomy tumor Turner syndrome urogenital uterus vaginal X-linked XY female Y chromosome