Aim: The 45,X/46,XY karyotype is rare with an estimated incidence rate of less than 1/15.000 live births. It represents from Turner females to phenotypically normal males with varying degrees of genital ambiguity. Although, high gonadotropin levels have been described in 05 years old girls with Turner syndrome, high FSH level is not well known finding in prepubertal girls older than 6 years.
Case: A 6 y 8 m girl presented with lipomastia. She was born 3720 gr via section and her background was normal. Although her height is normal (height: 116.4 cm (−0.57SD), weight: 26.8 kg (+1.17SD), BMI: 19.7 kg/m2 (+1.73SD), MPH: 170 cm (+1.05SD)), her height SDS was 1.5 SD lower than MPH SDS. Also she has long palpebral fissure and prominent eyes as her fathers. The system examination was normal with breast T1 (lipomastia), pubic T1. On laboratory tests, FSH: 16.7U/L, LH: <0.1 U/L, E2: <5 pg/mL, BA: 6 y10/12-7 y10/12, PAH: 154.9148.8 cm, pelvic USG: uterus 29x5x10 mm, RO:13x4x7 mm, LO:10x5x6 mm. Karyotype analysis (blood) was detected 45X0/46XY. FSH levels decreased 8.2 U/L one month later. Gonadectomy was planned.
Conclusion: Elevated FSH level expects in 05 years old children with 45X0 Turner syndrome, but it can be also seen in prepubertal girls.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology