DOI: 10.1055/s-00000072

Seminars in Reproductive Medicine

Issue 05 · Volume 30 · October 2012 DOI: 10.1055/s-002-23804 Normal and Abnormal Sex Development – from Patients to Genes Guest Editor, Berenice B. Mendonca, M.D., Ph.D.

Editorial

335
Carr, Bruce R.: Introduction to Guest Editors

Preface

337
Mendonca, Berenice B.: Disorders of Sex Development

339
Wilson, Jean D.; Rivarola, Marco A.; Mendonca, Berenice B.; Warne, Garry L.; Josso, Nathalie; Drop, Stenvert L.S.; Grumbach, Melvin M.: Advice on the Management of Ambiguous Genitalia to a Young Endocrinologist from Experienced Clinicians
351
Quinn, Alexander; Koopman, Peter: The Molecular Genetics of Sex Determination and Sex Reversal in Mammals
364
Josso, Nathalie; Rey, Rodolfo; Picard, Jean-Yves: Testicular Anti-Müllerian Hormone: Clinical Applications in DSD
374
El-Khairi, Ranna; Achermann, John C.: Steroidogenic Factor-1 and Human Disease
382
Latronico, Ana Claudia; Arnhold, Ivo J. P.: Inactivating Mutations of the Human Luteinizing Hormone Receptor in Both Sexes
387
Biason-Lauber, Anna: WNT4, RSPO1, and FOXL2 in Sex Development
396
New, Maria I.; Abraham, Moolamannil; Yuen, Tony; Lekarev, Oksana: An Update on Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia
400
White, Perrin C.; Bachega, Tânia A.S.S.: Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency: From Birth to Adulthood
410
Ogata, Tsutomu; Sano, Shinichirou; Nagata, Eiko; Kato, Fumiko; Fukami, Maki: MAMLD1 and 46,XY Disorders of Sex Development
417
Auchus, Richard J.; Miller, Walter L.: Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
427
Costa, Elaine M.F.; Domenice, Sorahia; Sircili, Maria Helena; Inacio, Marlene; Mendonca, Berenice B.: DSD Due to 5α-Reductase 2 Deficiency - from Diagnosis to Long Term Outcome
432
Hughes, Ieuan Arwel; Werner, Ralf; Bunch, Trevor; Hiort, Olaf: Androgen Insensitivity Syndrome
443
Sandberg, David E.; Gardner, Melissa; Cohen-Kettenis, Peggy T.: Psychological Aspects of the Treatment of Patients with Disorders of Sex Development