RT Book, Section
A1 Hogge, W. Allen
A1 Rajkovic, Aleksandar
SR Print(0)
ID 1115993149
T1 Gynecologic Disorders With a Genetic Causation
T2 Practical Genetics for the Ob-Gyn
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 9780071797214
LK obgyn.mhmedical.com/content.aspx?aid=1115993149
RD 2024/04/25
AB Case  1:  Ms.  Kolthoff  is  a  27-year-old  G0  P0,  who  was  evaluated  for  accelerated  growth  and  advanced  bone  age  in  high  school.  She  is  currently  married  without  children.  She  does  not  use  birth  control  and  despite  sexual  intercourse  approximately  a  few  times  a  week  for  the  past  2  years,  she  has  not  conceived.  She  complains  of  having  to  shave  her  upper  lip  as  well  as  hair  on  her  back  and  abdomen.  Her  menstrual  cycles  are  irregular  and  she  sometimes  will  not  have  one  for  several  months.  She  has  experienced  acne  for  which  she  took  over-the-counter  lotions  for  treatment  with  partial  success,  and  was  also  given  a  short  course  of  antibiotics  by  her  physician.  She  has  been  told  she  has  polycystic  ovarian  syndrome,  and  presents  with  concerns  about  her  fertility.  Her  family  history  is  unremarkable.  She  has  three  sisters  who  do  not  have  hirsutism,  and  all  three  have  children.  The  physical  exam  was  significant  for  short  stature,  shaved  upper  lip,  acne-related  facial  scarring,  and  significant  abdominal  and  back  hirsutism.  Her  external  genitalia  appeared  normal  and  the  pelvic  exam  was  unremarkable.  A  basal  17-hydroxyprogesterone  measure  was  1850  ng/dL,  while  an  ACTH  stimulation  test  showed  a  17-hydroxyprogesterone  rise  to  5300  ng/dL.  What  additional  tests  and  evaluation  would  you  consider  for  Ms.  Kolthoff?