TY - CHAP M1 - Book, Section TI - Disorders of Sexual Differentiation A1 - Parsa, Alan A. A1 - Lekarev, Oksana A1 - New, Maria I. A1 - Yau, Mabel A1 - Khattab, Ahmed A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:Genetic sex is determined by the paternally inherited X or Y chromosome. Once established sexual determination, the commitment of the primordial gonads to becoming testes or ovaries, will follow and lead to the final phase of sexual differentiation which is the subsequent development of the internal and external genitalia. Sexual differentiation under normal circumstances is under the control of a 35 kb region of the Y chromosome known as the SRY gene. A defect anywhere in this process can cause disorders of sexual differentiation and can be classified as one of the following:46,XY disorders of gonadal determination46,XX disorders of gonadal determination46,XY disorders of androgen biosynthesis and actionLuteinizing hormone (LH) receptor defectsDisorders of antimüllerian hormone (AMH) or antimüllerian hormone receptorAndrogen excessMonogenic forms:All enzymatic defects associated with the adrenals are monogenic.Family history:A pedigree of at least three generations should be obtained to evaluate consanguinity.Environmental factors:Fetal exposure to compounds with estrogenic effects (xenoestrogens) such as herbicides, pesticides, polychlorinated biphenyls (PCBs), polystyrenes, as well as antiandrogens such as the polyaromatic hydrocarbons, linuron, vinclozolin. Androgen exposure includes inadvertent contact by the mother with testosterone creams used by a family member or the mother taking progestin-containing oral contraceptives. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102701708 ER -