Background: Turners syndrome (TS) is the most common genetic disorder in females affecting approximately 1 in 2500 live female births as a result of partial or complete X chromosomal monosomy. TS mostly affect skeletal, cardiovascular, endocrine and reproductive systems. Girls with TS present with short stature and dysmorphic features such as webbed neck and delayed puberty. Age at diagnosis of children with TS is extremely important to start growth hormone at younger age to attain optimal adult height and then to decide on hormone replacement therapy to induce puberty and improve bone health.
Objectives: This audit evaluated trends in presentation, age at diagnosis and investigation findings of children with Turner syndrome at presentation and overall surveillance.
Method: Retrospective data analysis carried out on children diagnosed with Turner syndrome and followed up in Paediatric Endocrinology Clinic in Prime Tertiary care Hospital for Children in the country. Patient data (n=18) were analysed to evaluate trends in diagnosis and to audit clinical presentation, investigations and management.
Results: The most common age group at diagnosis was 1115 years and only two cases were diagnosed at birth. Majority of them referred by General Paediatricians in peripheral hospitals and then by Paediatric Cardiologists. The commonest presentation is short stature (72%) and with congenital heart defects (16%) and other presentations were strabismus, dysmorphic features and neonatal lymphoedema. The frequently observed genetic defect was 45, X0 nearly 44% followed by 46XX/45X0 which was 22%. Approximately 11% of them had SRY positive and rest of the others had variable chromosomal abnormalities including deletions, isochromosomes, ring chromosomes and translocations. Regarding cardiovascular system 55% of them had cardiac lesions in Echocardiogram. Majority had small uterus and atretic ovaries but only two girls had renal anomalies. Currently, 72% of them on growth hormone and 16% on hormone replacement therapy. Two of them underwent bilateral gonadectomy as they carry Y chromosome material. Abnormal thyroid functions found in 22% and currently on thyroxine. Screening for hearing detected 22% of girls with mild to moderate hearing impairment whereas assessment of vision found two girls with strabismus and two with refractory errors.
Conclusion: This study shows delay in diagnosing and referring patients with TS most commonly after 11 years of age which has resulted limited time period for growth hormone therapy and delay in detecting other system involvement.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology