hrp0084p3-1174 | Thyroid | ESPE2015

The Impact on Families of Receiving a Diagnosis of Congenital Hypothyroidism

Alvi Sabah , Priestley Julia , Whitehead Amanda , Walker Jenny , Mushtaq Talat

Background: Congenital hypothyroidism (CHT) may be viewed as a relatively easy condition to diagnose and treat. However, for the parents who are contacted with the neonatal screening results the news can be devastating, and the quality of information provided can be very variable.Objective and hypotheses: We aimed to explore the experience of parents at the time of diagnosis, and ascertain how we could improve this.Methods: In asso...

hrp0084p2-323 | DSD | ESPE2015

Chromosomal Variations in Children and Adolescents with Gender Dysphoria: Is Routine Karyotyping Indicated?

Goedhart Claire , Brain Caroline , Viner Russell M , Alvi Sabah , Mushtaq Talat , Walker Jenny , Carmichael Polly , Butler Gary

Background: Chromosome analysis is always indicated in disorders of sex development (DSD), but the need for karyotyping in gender dysphoria (GD) is less clear.Aims and objectives: We therefore aimed to review the place of routine chromosome analysis in the management of GD in children and adolescents.Patients and methods: 490 children and adolescents with GD have been referred to the two endocrine clinics forming part of the joint ...