Bibliothèque de L'IMIST/CNRST

Conference entitled: Hormonal and Genetic Basis of Sexual Differentation, was held in Miami on January 15, 2010.

Includes bibliographical references and index.

pt. 1. Genetic disorders of steroids - speakers. Congential adrenal hyperplasia owing to 17[alpha]-hydroxylase/17,20 lyase and P450 oxidoreductase deficiencies / Christa E. Flück -- Congenital adrenal hyperplasia owing to 11[beta]-hydroxylase deficiency / Perrin C. White -- 46,XY DSD due to 17[beta]-HSD3 deficiency and 5[alpha]-reductase type 2 deficiency / Marlene Inacio ... [and others] -- Studies of a cohort of 46,XY with DSD including steroid biosynthesis deficiencies / Yves Morel ... [and others] -- Aromatase deficiency and its consequences / Melvin M. Grumbach -- Gonadotropin-regulated testicular helicase (GRTH/DDX25): a master post-transcriptional regulator of spermatogenesis / Maria L. Dufau ... [and others] -- part 2. Prenatal diagnosis of congenital adrenal hyperplasia - speakers. Long range outcome of prenatal treatment / Maria I. New and Alan A. Parsa -- Novel non-invasive prenatal diagnosis as related to congenital adrenal hyperplasia / Joe Leigh Simpson and Farideh Bischoff -- part 3. Treatment of congenital adrenal hyperplasia - speakers. Medical treatment of classic and nonclassic congenital adrenal hyperplasia / Phyllis W. Speiser -- Apparent mineralocorticoid excess - update / Saroj Nimkarn -- Clitoroplasty in congenital adrenal hyperplasia: description of technique / Dix P. Poppas -- Genitoplasty/vaginoplasty / Richard C. Rink -- Insights into the aetiology of ovotesticular DSD from studies of mouse ovotestes / Peter Koopman and Dagmar Wilhelm -- part 4. Receptor defects - speakers. 46,XY disorders of sex development (46,XY DSD) due to androgen receptor defects: androgen insensitivity syndrome / Ivo J.P. Arnhold ... [and others] -- Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine / Adam T. Szafran ... [and others] -- Phenotypic variation of SF1 gene mutations / Pascal Philibert ... [and others] -- part 5. Psychological aspects of intersex - speakers. Transsexualism ("gender identity disorder") - a CNS limited form of intersexuality? / Heino F.L. Meyer-Bahlburg -- part 6. Embryology of sex differentiation - speakers. Biology and genetics of anti-Müllerian hormone / Nathalie Josso -- Genetic mechanisms underlying 46,XY DSD with gonadal dysgenesis / Louisa Ludbrook and Vincent R. Harley -- part 7. Disorders of sex differentiation - speakers. Genetic disorders of sex differentiation / Ken McElreavey and Anu Bashamboo -- The clinical spectrum and treatment of ovotesticular disorder of sexual development / Rinus Wiersma -- The genetics of ovotesticular disorders of sex development / Eric Vilain -- Growth hormone treatment in children with congenital adrenal hyperplasia / Madeleine D. Harbison, Karen Lin Su, and Maria I. New -- part 8. Hormonal hypertension - speakers. Genetic modifications of corticosteroid receptors in hypertension / John W. Funder -- Angiotensin AT₂ receptors: control of renal sodium excretion and blood pressure / Robert M. Carey -- part 9. Skeletal biology - speakers. The pituitary-bone axis / Mone Zaidi, Li Sun, and Jameel Iqbal -- Genetic impact of both sex hormones in male-typical behaviors / Takahiro Matsumoto ... [and others] -- part 10. Posters. MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female / Maíra Pontual Brandão ... [and others] -- Atypical presentation and novel StAR protein gene mutation in a 46,XY female with lipold congenital adrenal hyperplasia / Oksana Lekarev, Yves Morel, and Maria I. New -- Patient-centered care: caring for families affected by disorders of sex development / Anthony J. Asciutto ... [and others] -- Assessing health-related quality of life in disorders of sex development: phase I - item generation / David E. Sandberg ... [and others] -- Leydig cell hypoplasia due to inactivating luteinizing hormone/chorionic gonadotropin receptor gene mutation presenting as a 46,XY DSD / Sunil K. Sinha ... [and others] -- Inguinal hernia in a phenotypic female infant may reveal a 46XY sex reversal, supported by the identification of a novel SF1 gene mutation / Sunil K. Sinha ... [and others] -- University of Michigan Disorders of Sex Development (DSD) Research and Quality Improvement Symposium / David E. Sandberg, Anthony J. Asciutto, and Emily Haddad -- The challenge of mistaken sex assignment in a 11-year-old with virilizing CAH / Martha Taboada and Priscila Gagliardi -- Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual developemnt / Miroslav Dumic ... [and others] -- Subject index.