Genetic Defects of Female Sexual Differentiation

    November 2016 in “ Elsevier eBooks ”
    Martine Cools
    Studysummary This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
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    1. Management of Congenital Adrenal Hyperplasia During Pregnancy Current Opinion in Endocrinology, Diabetes and Obesity · 2012
    2. A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity The Journal of Clinical Endocrinology & Metabolism · 2005
    3. Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene ˜The œJournal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism · 2002

    Related research 1

    1. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016