Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty  Enver Simsek, M.D., Ismail Ozdemir, M.D., Lin Lin, M.D., John C. Achermann, M.D.  Fertility and Sterility  Volume 83, Issue 5, Pages 1548.e23-1548.e26 (May 2005) DOI: 10.1016/j.fertnstert.2004.11.063 Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions

FIGURE 1 The abdominal pelvic ultrasound shows enlarged and multicystic left and right ovaries. One of the cysts in the right ovary is 23.3 mm by 24.0 mm in diameter (black and white arrows). B = bladder; LO = left ovary; RO = right ovary. Fertility and Sterility 2005 83, 1548.e23-1548.e26DOI: (10.1016/j.fertnstert.2004.11.063) Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions

FIGURE 2 A 14-year-old girl presented primary amenorrhea, lack of pubertal development, and short stature, and was diagnosed with isolated deficiency of 17,20-lyase. Six months after the commencement of sex steroids replacement. Fertility and Sterility 2005 83, 1548.e23-1548.e26DOI: (10.1016/j.fertnstert.2004.11.063) Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions