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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Free Communications

Pituitary, neuroendocrinology and Puberty 1

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

Novel Variants in the POU1F1 Beta Isoform are Associated with Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency

Hoppmann Julia , Rockstroh-Lippold Denise , Gergics Peter , Nakaguma Marilena , Carvalho Luciani Renata Silveira , Pfaeffle Heike , Jamra Rami Abou , Jorge Alexander , Guo Michael H. , Dauber Andrew , Keller Eberhard , Camper Sally A. , Arnhold Ivo JP , Pfaeffle Roland

Background: Hypopituitarism is characterized by deficiency of one or more anterior pituitary hormones. POU1F1 mutations are the second most frequent known cause of combined pituitary hormone deficiency (CPHD). Patients are typically deficient in GH, TSH, and prolactin, although two unrelated cases were reported with isolated GH deficiency (IGHD). To date, all POU1F1 mutations have been reported for the predominantly expressed alpha isoform, which is a transcr...

hrp0089fc9.2 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients

Cohen Enzo , Belkacem Sabrina , Fedala Soumeya , Collot Nathalie , Khallouf Eliane , Dastot Florence , Polak Michel , Duquesnoy Philippe , Brioude Frederic , Rose Sophie , Viot Geraldine , Soleyan Aude , Carel Jean-Claude , Sobrier Marie-Laure , Chanson Philippe , Gatelais Frederique , Heinrichs Claudine , Kaffel Noureddine , Coutant Regis , Erdeve Şenay Savaş , Aycan Zehra , Thalassinos Caroline , Lyonnet Stanislas , Şıklar Zeynep , Berberoglu Merih , Brachet Cecile , Amselem Serge , Legendre Marie

Purpose: Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in a very large cohort of patients.Methods: All GHRHR coding exons and flanking intronic regions were sequenced in 312 unrelated patients with non-syndromic IGHD. Functional consequences of all newly identified missense variants were assessed <e...

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...

hrp0089fc9.4 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

Neuroendocrine Morbidity after Paediatric Craniopharyngioma: a Longitudinal Single Centre Analysis of 93 Patients Over 30 Years

Dehalvi Shiraz , Guzzetti Chiara , Gan Hoong-Wei , Spoudeas Helen

Context: Craniopharyngiomas are rare, suprasellar tumours with excellent 5-year survival rates of 95%. Despite their benign histology, their tendency to invade vital nearby optic, hypothalamopituitary and vascular structures, complicates resection whilst potentially causing secondary life limiting morbidity, panhypopituitarism and premature mortality. Since 1997, conservative hypothalamic-sparing surgery and radiation to the residual tumour has replaced aggressive resection at...

hrp0089fc9.5 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

National Multidisciplinary Decision-Making Guideline for Children and Young People (Idiopathic Thickened Pituitary Stalk and/or Idiopathic Central Diabetes Insipidus

Cerbone Manuela , Bulwer Chloe , Ederies Ashraf , Vallabhaneni Kirtana , Ball Stephen , Kamaly Ian , Grossman Ashley , Gleeson Helena , Korbonits Marta , Nanduri Vasanta , Tziaferi Vaya , Jacques Tom , Visser Johannes , Spoudeas Helen A

Background: Thickening of the Pituitary Stalk (TPS) and/or Central Diabetes Insipidus (CDI) can occour in isolation or synchronously/metachronously in the same patient. Due to their rarity and wide spectrum of underlying aetiologies they represent a diagnostic and management conundrum.Aim: To develop a high-quality national multidisciplinary guideline for the assessment and management of children and young people (CYP) before their 19th birthd...

hrp0089fc9.6 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

National UK Guidelines for Screening, Multi-Disciplinary Team Management and Long-Term Follow-Up of Children and Young People (CYP) with Multiple Endocrine Neoplasia Type 1 (MEN1)

Crowne Elizabeth , Prasad Rathi , Newey Paul , Bradley Karin , Charnley Richard , Doran Helen , Callaway Mark , Mayhew Jonathan , Shine Brian , Izatt Louise , Spoudeas Helen , Harrison Barney

Background: The management of MEN1 in CYP<19 years is challenging due to its rarity, and diverse presentations of its component tumours to several adult and paediatric medical and surgical specialists. There is little high quality evidence for treatment recommendations.Aim: To ensure age- and tumour-specific paediatric and adult teams are involved in co-ordinated discussions to improve high quality care and hence survival and reduce long term morbidi...