Genetic Disorders of Human Sexual DevelopmentThere 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. |
Contents
The Embryology of Normal Gonadal and Genital Development | 3 |
Sex Chromosome and Autosome Contributions to Normal Gonadal | 11 |
Introductory Biochemistry and Endocrinology of Sexual Development | 39 |
The Clinical Approach to Genetic Abnormalities of Gonadal and Sexual | 51 |
Y Chromosome Aberrations | 61 |
Autosomal Disorders | 104 |
Absence of the Gonads | 124 |
Genetic Disorders of the AntiMüllerian Hormone AMH and | 131 |
Genetic Disorders of Sex Hormone Sensitivity | 241 |
Syndromes with Sexual Maldevelopment | 258 |
NonSyndromal Abnormalities of Sexual Development in Males | 321 |
association | 327 |
Systemic Disorders of Sexual Development with Gonadal Dysfunction | 343 |
Teratogenic Causes of Sexual Maldevelopment | 353 |
Genetic Disorders of Gamete Delivery | 377 |
Autosomal Genomic and Chromosomal Disorders with Meiotic | 383 |
Other editions - View all
Common terms and phrases
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 differentiation disease disorder distal drome duct dysplasia encodes Engl enzyme estrogen exon expression external genitalia 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 inheritance karyotype levels Leydig cell malformations mental retardation mice micropenis molecular mosaicism mouse müllerian müllerian duct 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 sibs spermatogenesis steroid syndrome 15 testicular testis testosterone transcription translocation trisomy tumor Turner syndrome uterus vaginal X-linked XY female Y chromosome