TY - CHAP M1 - Book, Section TI - Chapter 14. Disorders of Sex Determination and Differentiation A1 - Conte, Felix A. A1 - Grumbach, Melvin M. A2 - Gardner, David G. A2 - Shoback, Dolores Y1 - 2011 N1 - T2 - Greenspan’s Basic & Clinical Endocrinology, 9e AB - ACTH Adrenocorticotropic hormoneAKR1C2 3α-Hydroxysteroid dehydrogenase-3 (3α-HSD-3)AMH Anti-Müllerian hormoneBPES Blepharophimosis-ptosis-epicanthus inversus syndromeCAH Congenital adrenal hyperplasiaCIS Carcinoma in situCBX2 Chromobox homolog 2, homolog of mouse m33CMPD1 Campomelic dysplasiaDAX1 DSS-AHC-critical region on the X chromosome gene 1DHEA DehydroepiandrosteroneDHH Desert hedgehogDHT DihydrotestosteroneDMRT1 Double sex Mab3-related transcription factor gene 1DSS Dosage-sensitive sex reversalDSD Disorders of sexual development—congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical46,XX DSD Previously designated female pseudohermaphrodite46,XY DSD Previously designated male pseudohermaphroditeFISH Fluorescent in situ hybridizationFGF-9 Fibroblast growth factor-9FOXL2 Forkhead box L2FSH Follicle-stimulating hormoneGATA-4 Member of the GATA family of zinc finger transcription factorsGH Growth hormoneGnRH Gonadotropin-releasing hormonehCG Human chorionic gonadotropinHMG High mobility group17β-HSD-3 17β-Hydroxysteroid dehydrogenase-3ICSI Intracytoplasmic sperm injectionIGF Insulin-like growth factorLH Luteinizing hormoneMAMLD1 Mastermind-like domain containing 1MAP3K4 Mitogen-activated protein kinase kinase kinase 4Ovotesticular DSD Previously designated true hermaphrodismPAR Pseudoautosomal regionPOR P450 oxidoreductasePRKX Protein kinase X linkedPRKY Protein kinase Y linkedRFLP Testriction fragment length polymorphismRSPO1 R-spondin1SF-1 Steroidogenic factor-1SHOX Short stature homeobox gene on the X chromosomeSOX3 SRY-like HMG box-3SOX9 SRY-like HMG box-9SRY Sex-determining region Y geneStAR Steroidogenic acute regulatory proteinTSPY Testes-specific protein-Y encodedWAGR Wilms tumor-aniridia-genital anomalies-mental retardation syndromeWNT4 Human homolog of Drosophila wingless geneWT1 Wilms tumor geneXIST X-inactive specific transcript gene SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/29 UR - accessmedicine.mhmedical.com/content.aspx?aid=8406221 ER -