Abstract Ref Number = APCP832
INDUCTION OF PUBERTY IN A GIRL WITH TURNER SYNDROME, A NONMOSAIC 45,X KARYOTYPE
Armand Liwan,I Made Arimbawa,I Wayan Bikin Suryawan
Department of Child Health Medical School Udayana University Sanglah Hospital Bali Department of Child Health, Medical School, Udayana University, Sanglah Hospital, Denpasar, Bali
Background : Turner syndrome (TS ), a genetic disorder of female is caused by the loss of all or part from X chromosome. The incidence is estimated at 1:2000-1:2500 female births. The diagnosis of TS is based on clinical examination, laboratory test and chromosomal examination. We reported a case to know the clinical manifestations of TS and its management.
Case Presentation Summary : A 14 year old girl that was referred with short stature and delayed puberty. Physical examination revealed low hair line, high arched palate, micronagthia, cubitus valgus, broad chest and tanner stage 1. The FSH and LH levels were high 81.57 mIU/L and 4.8 mIU/L respectively, but estradiol level was very low (<0.500 pg/ml). Genetic analysis results were suitable for TS with 45,X karyotype (monosomy X). Electrocardiogram shows sinus tachycardia with right axis deviation, but echocardiography revealed normal cardiac structure and function. Abdominal ultrasonography shows no visible uterus and ovaries. Opthalmology examination found the patient with suspected ocular hypertension , but after repeated measurement, the patient's intraocular pressure were declared normal. There was no abnormality found on audiogram and otoaucoustic emission examinations. Bone age was appropriate for 10 years old child. We planed to give growth hormone but it wasn't covered by insurance. Low dose estradiol was started after the diagnosis was established, started from 1 µg and increased gradually until the feminization is adequate.
Learning Points/Discussion : Recognizing the clinical manifestations of TS in various organs is important, and comprehensive screening evaluation are needed, to find another condition related to the syndrome. Multidisciplinary approaches is fundamental in treating a patient with TS.
Keywords: Turner syndrome Short stature Delayed puberty