hrp0092rfc8.6 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Growth, Pubertal Course and Long-Term Outcome of 46,XY Boys Born with Atypical Genitalia and Low Birthweight

Tack Lloyd , Straaten Saskia van der , Cools Martine , consortium On behalf of the I-DSD

Introduction: Boys born small for gestational age (SGA) often have undermasculinized genitalia. Little is known about the pubertal development and gonadal function on a longer-term in this specific group of males.Aims: To determine the (pubertal) development and long-term urological and endocrine outcome of undermasculinized boys born SGA compared to undervirilized boys born appropriate for gestational age (AGA).<p c...

hrp0089p3-p142 | Fat, Metabolism and Obesity P3 | ESPE2018

Osse Registry for Patients with Lipodystrophy Run by the European Consortium of Lipodystrophy (ECLip)

von Schnurbein Julia , Schaaf Jannik , Cecarini Giovanni , Vantyghem Marie-Christine , Vatier Camille , Nagel Gabriele , Araujo-Vilar David , Wabitsch Martin

Introduction: The term lipodystrophy describes a rare disease subdivided into a heterogenous group of even rarer subforms. The rarity of this disease makes research in this area extremely difficult and international co-operation is mandatory to accumulate data sets of sufficient size. The European Consortium of Lipodystrophy (ECLip) consisting of an association of European experts in the field of lipodystrophy has therefore decided to set up a registry for patients with lipody...

hrp0086p1-p347 | Gonads &amp; DSD P1 | ESPE2016

The International AGD Consortium: A Multi-center Study of 3939 Infants and Children with Anogenital Distance Measurements

Lindhardt Johansen Marie , Thankamony Ajay , Acerini Carlo , Kold Jensen Tina , Main Katharina M. , Holm Petersen Jorgen , Swan Shanna , Juul Anders

Background: The anogenital distance (AGD) is considered a valid marker of altered androgen action in utero. Recently, reduced AGD has been shown in males with hypospadias, cryptorchidism, reduced semen quality and infertility. It has also been proposed as a new marker to be used by clinicians when managing patients with Disorders of Sex Development. However, little normative data exist and measurement methods vary.Objective and hypotheses: We established...

hrp0086p1-p356 | Gonads &amp; DSD P1 | ESPE2016

A New International Registry Highlights the Differences in Practice for Reaching a Diagnosis of CAH – On Behalf of the I-CAH/I-DSD Registry User Group

Kourime Mariam , Bryce Jillian , Jiang Jipu , Karunasena Nayananjani , Guran Tulay , Hannema Sabine Elisabeth , Cools Martine , Van Der Grinten Hedi L Claahsen , Krone Nils , Darendeliler Feyza , Balsamo Antonio , Bonfig Walter , Nordenstrom Anna , Hiort Olaf , Dagmar Lallemand , Ross Richard , Ahmed Syed Faisal , Koehler Birgit , Acerini Carlo , Mendonca Berenice B , Bertelloni Silvano , Lisa Lidka , Bonfig Walter , Elsedfy Heba , Marginean Otilia

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

hrp0094p1-164 | Growth B | ESPE2021

Long-term efficacy and safety of rhGH in children with SHOX deficiency: preliminary data of a national Italian survey (on behalf of ISPED Study Group on Growth Factors and Puberty).

Bruzzi Patrizia , Vannelli Silvia , Scarano Emanuela , Street Maria Elisabeth , Parpagnoli Maria , Trettene Adolfo Andrea , Wasniewska Malgorzata , Madeo Simona Filomena , Iughetti Lorenzo ,

Background: The phenotypic spectrum of short stature homeobox-containing gene deficiency disorders (SHOX-D) ranges from non-specific short stature to Leri-Weill dyschondrosteosis. Current guidelines support rhGH in SHOX-D children, but long-term data are still lacking. Moreover, no correlation has been established yet between the severity of phenotype, including the response to rhGH, and the underlying SHOX pathogenic variant.Aims: To ev...

hrp0082p2-d3-494 | Endocrine Oncology | ESPE2014

Three Year Experience of a National Interdisciplinary Initiative to Improve Outcomes for Children with Hypothalamic Pituitary Axis Tumours (HPATs) Using Multi-site Videoconferencing for Decision Making on Behalf of the UK HPAT Interest Group

Perelberg Daniel , Morillon Paul , Ederies Ash , Aquilina Kristan , Dorward Neil , Michalski Anton , Hargrave Darren , Chang Yen-Ching , Bozorgi Nillofar , James Samantha , Korbonits Marta , Drake William , Akker Scott , Mallucci Connor , Pizer Barry , Blair Jo , Kamaly Ian , Clayton Peter , Spoudeas Helen

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

hrp0089p2-p002 | Adrenals and HPA Axis P2 | ESPE2018

GnRH-analogue Treatment in Children with Congenital Adrenal Hyperplasia (CAH): Data from a Multicenter CAH Registry

Schreiner Felix , Rohayem Julia , Fricke-Otto Susanne , Golembowski Sven , Jorch Norbert , Schwab Karl Otfried , Warncke Katharina , Zanier Ulrike , on behalf of the German CAH Registry (DGKED-QS)

Background: Final height in patients with congenital adrenal hyperplasia (CAH) is generally assumed to be lower than the population norm. Besides CAH subtype and age at diagnosis, timing of pubertal development is considered to have a significant impact on final height. In most CAH patients, puberty starts within normal ranges, although at a somewhat earlier mean age compared to reference populations. CAH-complicating gonadotropin-dependent precocious puberty has been reported...

hrp0089p2-p004 | Adrenals and HPA Axis P2 | ESPE2018

Hydrocortisone (HC) Dose in Children with Congenital Adrenal Hyperplasia (CAH)

Hoyer-Kuhn Heike , Huebner Angela , Richter-Unruh Annette , Oeverink Rudolf , Bettendorf Markus , Rohrer Tilman , Kapelari Klaus , Roehl Friedrich-Wilhelm , Holl Reinhard , Woelfle Joachim , on behalf of the German CAH registry

Background: Recommendations for initial and maintenance dose of HC in CAH differ widely. However, treatment of CAH in young children is complicated by the lack of a suitable low-dose HC preparations.Methods: The German Society for Paediatric Endocrinology and Diabetology (DGKED) initiated a registry for patients with classical CAH (German CAH registry). Anonymized data are transferred for central analysis, including a validation step and a benchmarking r...

hrp0086p1-p464 | Fat Metabolism and Obesity P1 | ESPE2016

Central Obesity among European Preschool Children: The ToyBox-Study

Galcheva Sonya , Lateva Mina , Iotova Violeta , Androutsos Odysseas , Manios Yannis , De Bourdeaudhuij Ilse , Cardon Greet , Socha Piotr , Moreno Luis , Koletzko Berthold , on behalf of ToyBox-Study Group

Background: Waist circumference (WC) reflects the fat distribution and the degree of central adiposity in children, which is specifically associated with cardiovascular risk factors and useful as a component of metabolic syndrome definition in children.Objective and hypotheses: To evaluate the distribution of WC measures among preschool children aged 3.5–5.5 years from six European countries.Method: Cross-sectional study of a ...

hrp0089fc14.2 | Multisystem Endocrine Disorders | ESPE2018

National UK Guidelines for the Clinical Assessment, Diagnosis, Treatment and Follow-up of Children and Young People (CYP) Under 19 Years of Age with Phaeochromocytoma (PCC) and Paraganglioma (PGL) – On Behalf of the UK Paediatric Phaeochromocytoma and Paraganglioma Guideline Development Group (GDG)

Katugampola Harshini , Marks Stephen , Quek Samuel , Yadav Prateek , Spoudeas Helen A , Harrison Barney

Background: PCC and PGL are rare in CYP. National children’s registry data reveal an annual incidence of 0.2 and 0.3 per million in 5–9 and 10–14 year age groups respectively. Almost all result from a genetic predisposition, can present with non-specific symptoms, and represent a significant management challenge.Aims: We aimed to provide the first interdisciplinary national management guidelines using the AGREEII framework for CYP with con...