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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Free Communications

Pituitary, Neuroendocrinology and Puberty Session 2

hrp0092fc11.1 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Phenotypic Characterization of a Large Pediatric Cohort of Patients with Genetic Forms of Congenital Hypopituitarism

Cionna Cecilia , Cerbone Manuela , Gregory Louise C , Dattani Mehul T

Background: Genetic variants are identified in a small proportion (~10%) of patients with Congenital Hypopituitarism (CH), with variable associated phenotypes. We aimed to phenotypically characterise a large cohort of patients with genetically proven CH.Patients and methods: 1684 CH patients were screened (Sanger or whole exome sequencing) over a 20-year period (1998-2018) for mutations in genes regulating pitui...

hrp0092fc11.2 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

A Novel Minor Spliceosome Defect Associated with Growth Hormone Deficiency (GHD) and Primary Ovarian Insufficiency (POI)

Akin Leyla , Gregory Louise , Buonocore Federica , Group GOSgene , Kurtoglu Selim , Kendirci Mustafa , Burçin Gonen Z. , Lovell-Badge Robin , Rizzoti Karine , Dattani Mehul

Objectives: We describe 5 pedigrees with a novel phenotype including GHD associated with primary ovarian insufficiency (POI) and investigate the underlying molecular basis.Patients and Methods: 6 Turkish patients (5F, 1M) born to 5 consanguineous pedigrees with severe GHD were identified. All females had POI; the male had normal puberty. All had severe postnatal growth retardation (height -4.4 to -8.9 SDS at presentation...

hrp0092fc11.3 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

A Novel Genetic Aetiology for Familial Neonatal Central Diabetes Insipidus

lavi Eran , Sharaf Muna , Abu-Libdeh Abdulsalam , Renbaum Pinchas , Levy-Lahad Ephrat , Zangen David

Background: Central diabetes insipidus (CDI) in the neonatal age is usually a result of intracranial insult, either congenital or acquired. Familial CDI is usually an autosomal dominant disorder, presenting later in childhood (1-6 y) with polyuria and mostly caused by mutations in the Neurophysin II moiety of the AVP-NPII prohormone gene; these interfere with prohormone processing leading to gradual destruction of AVP secreting cells and result in arginine vas...

hrp0092fc11.4 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Whole Exome Sequencing in a Familial Case of Adamantinomatous Craniopharyngioma Revealed Two Hits Affecting Wnt-Signaling Pathway

Gorelyshev Alexander , Mazerkina Nadezhda , Vasilyev Evgeny , Petrov Vasily , Ryzhova Marina , Gorelyshev Sergey , Tiulpakov Anatoly

Background: Craniopharyngiomas (CPs) are benign brain tumours that intimately involve pituitary and, often, hypothalamus. Here, primary clinical conundrum is choosing between gross total resection and preserving endocrine functions. Robust predictors of recurrence are much needed, but require a deeper understanding of the molecular basis of CPs. Multiple studies show that CTNNB1 (β-catenin) somatic mutations drive the adamantinomatous subtype ...

hrp0092fc11.5 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Survival, Endocrine Disorders and Quality of Life in 135 Children with Craniopharyngioma After Surgical or Combined Treatment

Mazerkina Nadia , Savateev Alexandre , Gorelyshev Sergey , Trunin Yuri , Golanov Andrey , Kutin Maxim , Kalinin Pavel , Konovalov Alexandre

Patients and Methods: We analyzed 135 primary operated craniopharyngioma (CP) patients and 75 CP patients, received radiotherapy/radiosurgery in 2005-2012. Neurologic, endocrine, visual functions, quality of life (QofL) and neuroimaging data before and after treatment were assessed.Patients were divided in 2 groups according to CP location: 48,5% endosellar (ESCP), and 51,5% suprasellar (SSCP). Surgical treatment included tumor e...

hrp0092fc11.6 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Pubertal Timing in Parents is Associated with Timing of Pubertal Milestones in Offspring of Concordant Sex – but Only Inconsistently with Milestones in Offspring of Discordant Sex

Busch Alexander S , Hagen Casper P , Juul Anders

Context: Puberty timing is highly heritable. Recent genome-wide association studies, comparing timing of menarche in girls to timing of voice-break and facial hair in boys, revealed a largely overlapping genetic architecture of female and male pubertal timing. However, it is also known that genetic heterogeneity between sexes exists for some loci.Objectives: We hypothesized that self-reported relative parental pubertal t...