ESPE Abstracts

Background: Turner syndrome (TS) is characterised cytogenetically by X chromosome monosomy, the presence of an abnormal X chromosome, or mosaicism of a 45,X or have an abnormal sex chromosome rearrangement. Girls with variant TS show no features, fewer or milder features of TS.

Objective and hypotheses: We are reporting on a clinical report of a girl with a rare variant of TS (46,X,i(X) (q10)).

Method: This is a case report of a 12-year-old Kuwaiti girl who was referred for assessment of the short stature and hypothyroidism for which she has been already started on GH and thyroid replacement therapy.

Results: The girl’s height was at −4 S.D. Chromosomal analyses were revealed 46,X,i(X) (q10). Thyroid function test was normal on treatment with negative anti-TPO antibodies. Ultrasound of the abdomen and pelvis showed small uterus for her age and non-visualized ovaries with no renal anomalies. Echocardiography was normal. Genetic counselling was done for her and her family. She is currently under treatment with growth hormone and thyroid replacement with appropriate doses for her diagnosis.

Conclusion: Our case demonstrated features similar to those in girls with this rare form of TS. However, our patient did not have oedema, cardiac or renal anomalies. This case demonstrates the importance of doing karyotype in such girl even without overt clinical features of TS to diagnose TS and its complications.