Abstract Ref Number = APCP831
A CLASSICAL TURNER SYNDROME
Ni made ayu Wirastiti,Made Arimbawa,I W Bikin Suryawan
Department of child health medical school udayana university sanglah hospital denpasar bali Department of Child Health, Medical School, Udayana University, Sanglah Hospital, Denpasar, Bali
Background : Turner syndrome (TS) is a genetic disorder in females characterized by the absence of all or part of a normal second sex chromosome. TS occurs in 1 in 2500 to 1 in 3000 live-born girls. Turner syndrome is a complex and multisystem syndrome.
Case Presentation Summary : a 16 year old girl who came to endocrinology outpatient clinic with chief complain primary amenorrhea, delay puberty and short stature. She had prepubertal pattern genital development, no distribution of axilary and pubic hair, high arch palatum, low posterior hair line, low set ears, webbed neck, shield chest. The laboratory examination showed high consentration of lutein hormon (25.4mI U/L, N= 0,5-9,8 mI U/L) dan follicular stimulating hormon(72.10 mI U/L, N = 0,96–12,9 mI U/L),and low consentration of estradiol (20 pg/mL, N= > 45 pg/mL), with the monosomy karyotyping (45,XO), then TS was established. Low ethinylestradiol was started with gradually increment.
Learning Points/Discussion : Recognizing the presentation of TS in many organ systems was important to make a proper management.
Keywords: Turner syndrome hypergonadotropic hypogonadism delay puberty short stature