Endocrine Abstracts

JOINT1808

In Nepal, we have limited data regarding patients with Turner Syndrome, which is a rare chromosomal abnormality seen in females. We reviewed 16 cases of Turner Syndrome attending our endocrine center from July 2013 and Oct 2024. The mean age was 7.06 ± 5.82 (range 8 - 30) years, weight was 38.12 ± 13.42(range 18- 61) kg, height 131.21 cm ± 14.65 (range 104 - 153) cm and BMI was 20.96 ± 4.38 (range 16 - 30.4)kg/m². All patients presented with shunted growth. Primary amenorrhea was seen in 8 patients (50%), secondary amenorrhea in 3 patients (18.75%), delayed puberty in 13 patients (81.25%). 2 patients were 8 years old and 1 patient 11 years old. Only one was married and she was infertile. Webbed neck feature was noted in 10 patients (62.5%) and low set ear in 5 patients (31.25%). Madelung deformity was found in 2 patients (12.5%), cubitus valgus 12 patients (75%), kyphosis in 1 patient (6.25%) and broad chest in 8(50%) patients. One patient (6.25%) had hearing impairment and one (6.25%) had ear infection. Left renal agenesis was seen in 1(6.25%). Hypothyroidism was present in 7 patients (43.75%), hyperthyroidism in 1 patient (6.25%) and lymphedema in 1 patient (6.25%). Diabetes was not present in our patients while 1 patient (6.25%) had hypertension. None of our patients had cardiac problems. Mean FSH at presentation was 83.65 mIU/ml. Karyotyping was 45X0 in 10 patients (62.5%) and Mosaic in 6 patients (37.5%). Ultrasonography showed hypoplastic uterus in all patients. Growth hormone treatment was done in 4(25%) patients for the duration ranging from 6 months to 2 years. Hormone replacement therapy was initiated with estrogen only in 8(50%) patients and a combined estrogen & progesterone sequential regime in 8 (50%) patients. All estrogen were conjugated estrogen and progesterone was Medroxyprogesterone acetate. Combined oral contraceptive (COC) was not used in our patients.