RT Book, Section
A1 Ketefian, Aline
A1 Goodarzi, Mark
A2 Murray, Michael F.
A2 Babyatsky, Mark W.
A2 Giovanni, Monica A.
A2 Alkuraya, Fowzan S.
A2 Stewart, Douglas R.
SR Print(0)
ID 1102703908
T1 Polycystic Ovary Syndrome
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessmedicine.mhmedical.com/content.aspx?aid=1102703908
RD 2024/04/18
AB Disease  summary:Polycystic  ovary  syndrome  (PCOS)  is  a  highly  prevalent  and  complex  genetic  disorder  affecting  reproductive  aged  women.  Its  characteristics  include  clinical  and/or  biochemical  androgen  excess,  ovulatory  dysfunction,  and  polycystic  ovaries  (PCOs).  Women  with  PCOS  are  at  increased  risk  for  infertility,  obesity,  insulin  resistance,  glucose  intolerance,  type  2  diabetes  mellitus  (T2DM),  dyslipidemia,  and  cardiovascular  disease.Hereditary  basis:There  is  an  increased  prevalence  of  PCOS  among  family  members.  Approximately  20%  to  40%  of  first-degree  female  relatives  of  women  with  PCOS  are  affected  by  the  condition,  compared  to  a  prevalence  of  6%  to  10%  in  the  general  population.  A  twin-family  study  showed  71%  concordance  in  monozygotic  twins,  compared  to  38%  concordance  in  dizygotic  twins  and  other  sisters.  The  phenotypic  components  of  PCOS,  including  hirsutism,  hyperandrogenemia,  oligomenorrhea,  acne,  and  insulin  resistance,  are  also  increased  in  families  of  women  with  PCOS.Differential  diagnosis:It  is  important  to  exclude  thyroid  dysfunction,  hyperprolactinemia,  nonclassical  congenital  adrenal  hyperplasia,  androgen-secreting  neoplasms  (ovarian  and  adrenal),  Cushing  syndrome,  use  of  exogenous  androgens,  acromegaly,  primary  hypothalamic  amenorrhea,  primary  ovarian  failure,  hyperandrogenism/insulin  resistance/acanthosis  nigricans  (HAIRAN)  syndrome  (often  with  lipodystrophy),  and  syndromes  characterized  by  insulin  receptor  gene  mutations.