hrp0097p1-96 | GH and IGFs | ESPE2023

Modified Insulin Stress Test for Assessment of Growth Hormone Secretion – Experience from a University Teaching Hospital

Gupta Sanjay , Dean Olivia , Mathew Verghese , Tharian Kavitha , Willingham Linda

Introduction: Insulin stress test (IST) to diagnose growth hormone (GH) deficiency is rarely used by paediatric endocrine teams in the United Kingdom, due to concerns over safety. We share our experience of undertaking modified IST in children, with regards to safety and outcomes.Methods: We adapted the protocol for insulin stress test, proposed by Galloway et al to undertake pituitary stimulation test for our c...

hrp0092p2-211 | Multisystem Endocrine Disorders | ESPE2019

Ulnar Mammary Syndrome - A Case Report

Shetty Supreetha , Bhat Kavitha

Introduction: Ulnar mammary syndrome (UMS) is caused by a mutation of T-box transcription factor 3 (TBX3). It is a rare condition with only a few cases being reported in the literature. We report a child with ulnar mammary syndrome .Case Report: The patient presented to us at 14 years 6 months of age with concerns of failure to gain height which was noted from the age of 11years. His investigations were suggestive of gro...

hrp0084p2-530 | Puberty | ESPE2015

Nephrogenic Diabetes Insipidus with Partial Response to Ddavp Caused by a Novel AVPR2 Splice Site Mutation

Schernthaner-Reiter Marie Helene , Adams David , Nilsson Ola , Trivellin Giampaolo , Ramnitz Mary Scott , Raygada Margarita , Golas Gretchen , Faucz Fabio R. , Dileepan Kavitha , Lodish Maya B. , Lee Paul R. , Markello Thomas C. , Tifft Cynthia J. , Gahl William A. , Stratakis Constantine A.

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...

hrp0089rfc8.5 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Latest Progress in Tissue Engineered Urethral Regeneration: From Rabbit to Dog, a Step from Human Clinical Trial for Surgical Treatment of VSD (Variation of Sex Development)

Pinnagoda Kalitha , Vythilingam Ganesh , Vardar Elif , Ballet Eva-Maria , Tambidorai CR , Frey Peter , Larsson Hans-Mattias

Introduction: Treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, is associated with high rate of post-operative complications using current surgical procedures. This leads to a high rate of re-operation in an already emotionally complicated situation. We improved the tissue engineered acellular tubular collagen scaffolds that showed promising results in the rabbit model to implant it to a dog model. This FDA approved new version ac...

hrp0086rfc7.1 | Gonads &amp; DSD | ESPE2016

Tissue Engineered Collagen Based Tubular Scaffolds for Urethral Regeneration. A Novel Technology for the Surgical Treatment of VSD (Variation of Sex Development) Patients with Severe Hypospadias

Pinnagoda Kalitha , Larsson Hans M , Vythilingam Ganesh , Vardar Elif , Engelhardt Eva-Maria , Thambidorai Rajendrarao C , Hubbell Jeffrey A , Frey Peter

Background: Actual surgical procedures for the treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, are associated with frequent post-operative complications.Objective and hypotheses: Tissue engineered collagen tubes are a promising alternative.Method: We elaborated a new, two layered, collagen based tube that can be sutured. Mechanical testing proved a better resistance of those tubes co...