BookJohn M. Hutson, Sonia R. Grover, Michele A. O'Connell, Aurore Bouty, Chloe A. Hanna, editors.
Summary: This book covers advances in the molecular biology and embryology of sex development, describing each disorder in detail. Clinical presentation and diagnostic approach are described for babies and for those presenting later in childhood or at adolescence.
Contents:
Intro
Preface for the Second Edition
Acknowledgements for the Second Edition
Contents
About the Editors
1: Introduction: Changing Landscapes
1.1 Background
1.1.1 Terminology
1.1.2 Recent History of DSD
1.1.3 Clinical Definition of DSD
1.1.4 Incidence of DSD
1.1.5 Clinical Care: Historical Perspective and Changes Over Time
1.1.6 Human Rights and DSD: Where to from Here?
References
2: The Molecular Basis of Sex Determination and Differentiation: Implications for Understanding DSD
2.1 Formation of the Bi-potential Gonad 2.10 Genetics and DSD
2.11 Conclusion
References
3: Embryology of the Human Genital Tract
3.1 The Urogenital Ridge
3.1.1 Wolffian and Müllerian Duct Development
3.2 Sexual Differentiation
3.2.1 Testosterone
3.2.2 Anti-Müllerian Hormone (AMH or MIS)
3.2.3 Insulin-Like Hormone (INSL3)
3.3 External Genitalia
3.4 Gonadal Descent
References
4: Hormones Regulating Sex Development
4.1 Introduction
4.2 Testicular Hormones
4.2.1 Testosterone Synthesis
4.2.2 Androgen Receptor
4.2.3 Control of Testosterone Levels 4.2.4 Anti-Müllerian Hormone (AMH)
4.2.5 Insulin-Like Hormone 3 (INSL3)
4.3 Ovarian Hormones
4.4 The Placenta
4.5 The Foetal Hypothalamic-Pituitary Axis
4.6 Postnatal Hormone Levels and Implications (Fig. 4.4)
References
5: Embryology in DSD
5.1 Sex Determination
5.2 46,XY Complete Gonadal Dysgenesis
5.3 Incomplete Testicular Differentiation (and Mixed Gonadal Dysgenesis)
5.4 Anatomy of Caudal Internal Ducts in DSD
5.5 Placental Failure
5.6 Failure of the Hypothalamic-Pituitary-Gonadal Axis
5.7 Failure of Hormone Action
5.7.1 INSL3 5.7.2 AMH
5.7.3 Androgen
5.8 Morphogenesis of the Genitalia (See Also Chap. 9)
5.9 Internal Genital Tract
5.9.1 Wolffian Ducts
5.9.1.1 In the Female
5.9.1.2 In the Male
Epididymis
Vas Deferens
Seminal Vesicles (SV)
Cysts
Agenesis and Hypoplasia
5.9.2 Müllerian Ducts
5.9.2.1 In the Female
Anomalies of Development
Aplasia and Hypoplasia
Unicornuate Uterus
Anomalies of Fusion
Uterus Didelphys
Bicornuate Uterus
Anomalies of Septal Reabsorption
Septate Uterus
Arcuate Uterus
5.9.2.2 In the male
5.10 External Genitalia