Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference

Table of Contents

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   Book Overview
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   Chapter 1 Congenital Adrenal Hyperplasia Owing to 17α-Hydroxylase/17,20 Lyase and P450 Oxidoreductase Deficiencies
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   Chapter 2 Congenital Adrenal Hyperplasia Owing to 11β-Hydroxylase Deficiency
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   Chapter 3 46,XY DSD due to 17β-HSD3 Deficiency and 5α-Reductase Type 2 Deficiency
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   Chapter 4 Studies of a Cohort of 46,XY with DSD Including Steroid Biosynthesis Deficiencies
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   Chapter 5 Aromatase Deficiency and Its Consequences
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   Chapter 6 Gonadotropin-Regulated Testicular Helicase (GRTH/DDX25): A Master Post-transcriptional Regulator of Spermatogenesis
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   Chapter 7 Long Range Outcome of Prenatal Treatment
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   Chapter 8 Novel Non-invasive Prenatal Diagnosis as Related to Congenital Adrenal Hyperplasia
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    Chapter 9 Medical Treatment of Classic and Nonclassic Congenital Adrenal Hyperplasia
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    Chapter 10 Apparent Mineralocorticoid Excess – Update
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    Chapter 11 Clitoroplasty in Congenital Adrenal Hyperplasia: Description of Technique
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    Chapter 12 Genitoplasty/Vaginoplasty
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    Chapter 13 Insights into the Aetiology of Ovotesticular DSD from Studies of Mouse Ovotestes
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    Chapter 14 46,XY Disorders of Sex Development (46,XY DSD) due to Androgen Receptor Defects: Androgen Insensitivity Syndrome
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    Chapter 15 Androgen Receptor Mutations Associated with Androgen Insensitivity Syndrome: A High Content Analysis Approach Leading to Personalized Medicine
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    Chapter 16 Phenotypic Variation of SF1 Gene Mutations
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    Chapter 17 Transsexualism (“Gender Identity Disorder”) – A CNS-Limited Form of Intersexuality?
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    Chapter 18 Biology and Genetics of Anti-Müllerian Hormone
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    Chapter 19 Genetic Mechanisms Underlying 46,XY DSD with Gonadal Dysgenesis
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    Chapter 20 Genetic Disorders of Sex Differentiation
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    Chapter 21 The Clinical Spectrum and Treatment of Ovotesticular Disorder of Sexual Development
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    Chapter 22 The Genetics of Ovotesticular Disorders of Sex Development
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    Chapter 23 Growth Hormone Treatment in Children with Congenital Adrenal Hyperplasia
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    Chapter 24 Genetic Modifications of Corticosteroid Receptors in Hypertension
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    Chapter 25 Angiotensin AT 2 Receptors: Control of Renal Sodium Excretion and Blood Pressure
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    Chapter 26 The Pituitary-Bone Axis
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    Chapter 27 Genetic Impact of Both Sex Hormones in Male-Typical Behaviors
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    Chapter 28 MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female
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    Chapter 29 Atypical Presentation and Novel StAR Protein Gene Mutation in a 46,XY Female with Lipoid Congenital Adrenal Hyperplasia
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    Chapter 30 Patient-Centered Care: Caring for Families Affected by Disorders of Sex Development
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    Chapter 31 Assessing Health-Related Quality of Life in Disorders of Sex Development: Phase I – Item Generation
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    Chapter 32 Leydig Cell Hypoplasia due to Inactivating Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Mutation Presenting as a 46,XY DSD
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    Chapter 33 Inguinal Hernia in a Phenotypic Female Infant May Reveal a 46XY Sex Reversal, Supported by the Identification of a Novel SF1 Gene Mutation
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    Chapter 34 University of Michigan Disorders of Sex Development (DSD) Research and Quality Improvement Symposium
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    Chapter 35 The Challenge of Mistaken Sex Assignment in an 11-Year-Old with Virilizing CAH
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    Chapter 36 Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development