Gynecology & Obstetrics
Open Access
ISSN: 2161-0932
ISSN: 2161-0932
Dana Ibrahim
Royal Medical Services, Jordan
Scientific Tracks Abstracts: Gynecol Obstet
Ovarian agenesis (OA) is a rare congenital condition characterized by the absence of one or both ovaries, often associated with chromosomal abnormalities, hormonal imbalances, and structural deformities. The condition is frequently diagnosed in females presenting with primary amenorrhea and delayed sexual development. This case report highlights a unique presentation of bilateral ovarian agene sis in a patient with chromosome X translocation, bone modeling disease, and primary amenorrhea. A 17-year-old female with primary amenorrhea and a Madelung deformity presented with wrist pain, paresthesia, and limited range of motion. Imaging re vealed delayed joint growth, a fragility fracture, and osteoporosis. Further evaluation uncovered a small uterus and absent ovaries on ultrasound and mag netic resonance imaging (MRI). Hormonal analysis showed elevated gonadotropins, follicle stimulation hormone and luteinizing hormone (FSH and LH), low estradiol, and low anti-mullerian hormone (AMH) levels. Laparoscopy confirmed rudimentary bilateral ovaries and chromosomal analysis revealed 46,X, der(X)t(X;3)(p11;p11), indicating an X chromosome translocation with an SRY gene microdeletion. The patient was diagnosed with bilateral ovarian agene sis and referred for multidisciplinary care. Treatment included hormonal therapy with progyluton and est rofem, transitioning to marvilon, alongside physical therapy, nutritional support, and psychological coun seling. After six months, the patient showed impro vements in Tannerâ??s score, weight, mood, and bone density (transition from osteoporosis to osteopenia). Menstruation was restored, reflecting the success of the combined hormonal therapy and supportive treatments. This case underscores the importance of integrating cytogenetic, hormonal, and clinical evaluations in diagnosing and managing rare presen tations of ovarian agenesis. Early hormonal therapy and multidisciplinary care can significantly improve physical and psychological outcomes, including res toring menstruation and bone density. This is the first reported case of bilateral ovarian agenesis with chro mosome X translocation presenting with phenotypic amenorrhea and bone deformities, demonstrating the value of tailored therapeutic approaches. On going monitoring remains essential to ensure conti nued progress and mitigate long-term risks.
Dr. Dana Ibrahim is a resident physician in the Department of Obstetrics and Gynecology at the Royal Medical Ser vices in Amman, Jordan. She is actively developing her expertise in womenâ??s health, maternal care, and gynecologic practice through clinical training and participation in patient-centered medical services. Dr. Ibrahim is committed to advancing her skills in obstetrics and gynecology and contributing to improved healthcare outcomes for women in her community.