hrp0089p2-p191 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Association between Rubenstein-Taybi Syndrome and Hyperinsulinaemic Hypoglycaemia

El-Khairi Ranna , Destamani Antonia , Clements Emma , Morgan Kate , Hurst Jane , Shah Pratik

Introduction: Rubenstein-Taybi Syndrome (RSTS)is a rare multiple congenital anomaly syndrome with a prevalence of 1:100,000 to 1:125,000. It is classically characterized by postnatal growth deficiency, microcephaly, learning difficulties, increased risk of tumour formation, broad thumbs and halluces and dysmorphic facial features including highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose, high arched palate and characteri...

hrp0082p2-d3-618 | Turner Syndrome | ESPE2014

GH Deficiency as a Cause of Persistent Hypoglycaemia in a Child with Turner Mosaic and Kabuki Syndrome

Ajzensztejn Michal , Shah Pratik , Abid Noina , Hurst Jane , Morrogh Deborah , McKee Shane , Hussain Khalid

Introduction: We report the first known case of a child with mosaic Turner syndrome (TS) with ring X chromosome abnormality and Kabuki syndrome (KDM6A deletion) presenting with hypoglycaemia secondary to severe GH deficiency. Ring X Turner’s mosaic have the XIST locus, so the chromosome is inactivated, however the KDM6A gene deletion associated with Kabuki syndrome escapes X-inactivation as it is falls below the threshold required to manifest inactivation. This r...

hrp0084p2-303 | DSD | ESPE2015

Multiple Malformations Extending the Phenotypic Spectrum of Antley–Bixler Syndrome in a Patient with P450 Oxidoreductase Deficiency due to Two Novel Mutations of the POR Gene

Janchevska Aleksandra , Idkowiak Jan , Caredda Elisabeta , Hurst Jane , Dattani Mehul T , Arlt Wiebke , Spoudeas Helen A

Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

hrp0089fc3.5 | Diabetes and Insulin 1 | ESPE2018

Genotype and Phenotype Correlation in Syndromic Forms of Hyperinsulinaemic Hypoglycaemia – a 10-year follow-up Study in a Tertiary Centre

Dastamani Antonia , Kostopoulou Eirini , Clements Emma , Caiulo Silvana , Shanmugananda Prateek , Morgan Kate , Gilbert Clare , Dattani Mehul , Flanagan Sarah , Ellard Sian , Hurst Jane , Shah Pratik

Introduction: Hyperinsulinaemic Hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in infancy. It is characterised by hypoketotic, hypofattyacidaemic and hyperinsulinaemic hypoglycaemia. The molecular basis of HH includes defects in pathways that regulate insulin release; to date, 12 genes have been associated with monogenic forms of HH (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1, PMM2). However, no genetic aetiology has been...

hrp0089fc9.3 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

Mutations in MAGEL2 and L1CAM are Associated with Congenital Hypopituitarism and Arthrogryposis

Gregory Louise C , Pratik Shah , Sanner Juliane RF , Arancibia Monica , Hurst Jane , Jones Wendy D , Spoudeas Helen , Le Quesne Stabej Polona , Ocaka Louise , Loureiro Carolina , Martinez-Aguayo Alejandro , Williams Hywel , Dattani Mehul T

Background: Congenital hypopituitarism (CH), involving deficiencies in one or more anterior pituitary hormones, is rarely observed in combination with severe joint contractures, termed arthrogryposis. Schaaf-Yang syndrome (SHFYNG), which has phenotypic overlap with Prader-Willi syndrome, may be associated with arthrogryposis. L1 syndrome, a group of X-linked disorders including hydrocephalus and spasticity of the lower limbs, may also present with generalized contractures in r...