hrp0084p2-327 | DSD | ESPE2015

A Novel Mutation of Anti-Mullerian Hormone Receptor Gene in a Male with Persistent Mullerian Duct Syndrome

Elias-Assad Ghadir , Elias Marwan , Pressman Asher , Tenenbaum-Rakover Yardena

Background: Persistent Mullerian duct syndrome (PMDS) is a rare genetic disorder of internal male sexual development defined as a lack of regression of Mullerian derivatives in an otherwise normally virilized XY male. Approximately 85% of the cases are caused by mutations of the Anti-Mullerian hormone (AMH) or its’ receptor (AMHR-II) genes. In the current study, we report a novel homozygous mutation in the AMHR-II gene in a patient with PMDS and discuss the dilemma of the...

hrp0082wg7.2 | Nurses | ESPE2014

Evolving GH Therapy Patient Training in a Digital World

Asher Galit

Introduction: In recent years there have been rapid advances in modern communication technologies that have reached almost every child in the western world. The ways children interact and consume new information have changed in the digital age. Yet, most of the GH patients’ training is based on a face to face interaction using written materials.Aims: To increase patients’ knowledge, enhance positive feelings and decrease significantly fears of ...

hrp0086p1-p635 | Growth P1 | ESPE2016

Glucagon vs Clonidine Stimulation for Testing Growth Hormone Secretion in Children and Adolescents: Which is Better?

Asher Galit , Diament Rotem , Phillip Moshe , Lebenthal Yael

Background: The definitive diagnosis of childhood GH deficiency (GHD) depends on the demonstration of failure to respond to two stimuli. In our center children are allocated to either glucagon-first or clonidine-first according to the preference of the pediatric endocrinologist following the patient. The nursing staff prefer glucagon-first due to patient safety (less pronounced adverse events and faster recovery time). Few studies have addressed which GH stimulation test shoul...

hrp0086rfc6.8 | Syndromes: Mechanisms and Management | ESPE2016

The Actual Incidence of Small for Gestational Age (SGA) Newborns and their Catch-up Growth is Dramatically Lower than Previously Considered

Lavi Eran , Shafrir Asher , Libdeh Abdulsalam Abu , Stein-Zamir Chen , Friedman Smadar Eventov , shoob Hanna , Zangen David Haim

Background: SGA is defined as birth weight under 2 standard deviations (SD) from the mean. Previous studies indicate that 10% of SGA babies do not have “catch-up growth” (CUG). They are eligible for growth hormone (GH) therapy to increase final height. The unexpected low demand for GH therapy in SGA babies, triggered us to survey the actual incidence of SGA and failure in CUG.Objective and hypotheses: To find the actual incidence of SGA and fai...

hrp0084p3-1037 | Growth | ESPE2015

Expanding the Role of Nurses in Improving Patient Care and Clinical Outcomes in Growth Disorders

Casey Angela , Casnellie Lori

Background: Despite having a significant impact on patient care and treatment success, nurses’ roles and responsibilities in growth disorder (GD) treatment varies substantially between countries and should be optimised.Objective and hypotheses: To understand the critical role nurses play in patient clinical outcomes and how they can improve the patient management pathway.Methods: Nurses involved in the care of patients with GD...