TY - JOUR
T1 - A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia
T2 - A Case Report
AU - Hardigaloeh, Amanda T.
AU - Tarigan, Tri Juli E.
AU - Yunir, Em
AU - Sumapradja, Kanadi
AU - Agiananda, Feranindhya
AU - Ariani, Yulia
AU - Marzuki, Nanis S.
AU - Wahyudi, Irfan
AU - Lisnawati,
N1 - Publisher Copyright:
© 2023, Indonesian Society of Internal Medicine. All rights reserved.
PY - 2023
Y1 - 2023
N2 - A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner’s stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad. Follicle stimulating hormone, luteinizing hormone and testosterone level were increased (51.29 mIU/mL, 23.66 mIU/mL and 742 ng/dl). Karyotyping revealed 46 XY with Fluorescence in situ hybridization cytogenetic study based on 300 cells showed mosaic chromosome, monosomy X (17%) and XY (83%). Laparascopic gonadectomy was done and showed that testes were only in the right inguinal canal. Then patient had external genitalia reconstruction and received estrogen replacement therapy.
AB - A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner’s stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad. Follicle stimulating hormone, luteinizing hormone and testosterone level were increased (51.29 mIU/mL, 23.66 mIU/mL and 742 ng/dl). Karyotyping revealed 46 XY with Fluorescence in situ hybridization cytogenetic study based on 300 cells showed mosaic chromosome, monosomy X (17%) and XY (83%). Laparascopic gonadectomy was done and showed that testes were only in the right inguinal canal. Then patient had external genitalia reconstruction and received estrogen replacement therapy.
KW - ambiguous genitalia
KW - mixed gonadal dysgenesis
UR - http://www.scopus.com/inward/record.url?scp=85182099737&partnerID=8YFLogxK
M3 - Article
C2 - 38213048
AN - SCOPUS:85182099737
SN - 0125-9326
VL - 55
SP - 460
EP - 464
JO - Acta medica Indonesiana
JF - Acta medica Indonesiana
IS - 4
ER -