RT Book, Section
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.
SR Print(0)
ID 1102701708
T1 Disorders of Sexual Differentiation
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102701708
RD 2024/04/19
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.