hrp0084p3-737 | Diabetes | ESPE2015

Audit Assessing Glycaemic Control in Children Aged Less than 16 Years with Type 1 Diabetes in Malta Over the Period 2013–2014

Formosa Nancy , Torpiano John

Background: Suboptimal glycaemic control in type 1 diabetes, measured by HbA1c, increases the risk for long-term complications.Aims and objectives: To calculate and compare glycaemic control in children with Type 1 Diabetes in Malta in 2013 and 2014. To identify any need to change the way services are structured and delivered.Methods: Almost all diabetic children less than 16 years of age in Malta fall under the same paediatric dia...

hrp0094fc8.2 | Neuroendocrinology | ESPE2021

Recessive PRDM13 mutations result in hypogonadotropic hypogonadism and cerebellar hypoplasia

Gregory Louise C. , Whittaker Danielle E , Oleari Roberto , Quesne-Stabej Polona Le , Williams Hywel J. , UCL GOSgene , Torpiano John G , Formosa Nancy , Cachia Mario J. , Field Daniel , Lettieri Antonella , Ocaka Louise , De Martini Lisa Benedetta , Rajabali Sakina , Riegman Kimberley L. , Paganoni Alyssa J.J. , Chaya Taro , Robinson Iain C.A.F. , Furukawa Takahisa , Cariboni Anna , Basson M. Albert , Dattani Mehul T. ,

Three patients from two unrelated families in Malta; one consanguineous (siblings: Patient 1, male and Patient 2, female) and one non-consanguineous (Patient 3, male), manifested hypogonadotropic hypogonadism with delayed puberty, intellectual disability, scoliosis, and ataxia with cerebellar hypoplasia on MRI. GnRH tests revealed low peak LH and FSH concentrations in the patients: Patient 1; LH 2.3 IU/L, FSH 4.4 IU/L (14.3y), Patient 2; LH 3.6 IU/L, FSH 6.4 IU/L (12.5y), Pati...