TY - CHAP M1 - Book, Section TI - Gynecologic Disorders With a Genetic Causation A1 - Hogge, W. Allen A1 - Rajkovic, Aleksandar PY - 2015 T2 - Practical Genetics for the Ob-Gyn 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? SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/11 UR - obgyn.mhmedical.com/content.aspx?aid=1115993149 ER -