Endocrine Abstracts

Management of children with Turner’s syndrome in the Paediatric Endocrine Service in the last 15 years were reviewed retrospectively. There were 19 children with age range from 2 to 16 years.

The age distribution at diagnosis showed 12/19(63%) diagnosed below 1-year-old of those 5/12 (42%) were diagnosed by amniocentesis. 4/19 were diagnosed between 1 and 5 years old, only 3/19 came to medical attention after 10 years of age. Two were mosaic karyotype

In terms of route of referral: the majority has been referred by neonatal consultant 11/19, seven patients has been seem by primary health care professionals for concern regarding short stature or failure to thrive. Only one girl with delayed puberty has been referred by school nurse.

Looking at Turner’s syndrome features: only one girl had most of the clinical features of the syndrome, 2/19 suffer from cardiac problems, 7/19 had failure to thrive and short stature. 1/19 didn’t had any clinical features and diagnosed by amniocentesis.

Coeliac disease has been diagnosed in one of the patients, one child with dysplastic kidney and another one with hypothyroidism.

In the initial assessment in the endocrine service all the children had hearing test, echo cardiogram and renal ultrasound. The entire patients were seen 2–3 times/year and had annual blood tests.

11/19 patients (58%) on GH and most of the girls has been started on pubertal induction (5/7) before 13 birthdays.

Even though adolescent gynaecology service was mentioned to the child and family, only one patient was seen in that clinic.

Summary: Health care professional need to suspect and diagnose this condition early to provide appropriate support and treatment. There is a need to develop turner syndrome clinic and care pathway to improve transitional care service.