hrp0082p1-d1-59 | Diabetes | ESPE2014

A Randomized, Crossover Pilot Study Comparing Glycemic Control and Satisfaction with an Indwelling Catheter (I-PORT Advance) for Insulin Administration in Children and Adolescents with Type 1 Diabetes on Basal-Bolus Treatment

Maltoni Giulio , Martini Anna Lisa , Rollo Alessandra , Perri Annamaria , Zucchini Stefano

Background: Intensive insulin treatment allows a good metabolic control and prevents long-term complications. Basal-bolus regimen is the best treatment for children with type 1 diabetes T1D but requires several insulin injections a day. The needle-fear and discomfort felt by the child and parents/caregivers for insulin administration is one of the main obstacle to good compliance.Objective and hypotheses: To compare glycemic control and satisfaction with...

hrp0082p3-d3-794 | Fat Metabolism & Obesity (2) | ESPE2014

Prader–Willi Syndrome: Reports of Two Patients with Congenital Abnormalities of Kidney and Urinary Tract

Tamburrino Federica , Scarano Emanuela , Mencarelli Francesca , Perri Annamaria , Colangiulo Angela , Siroli Benedetta , Martini Anna Lisa , Mazzanti Laura

Background: Prader–willi syndrome (PWS) is characterized by decreased fetal activity, obesity, muscular hypotonia, MR, short stature, hypogonadism and small hands and feet. Little information is available concerning PWS and kidney involvement.Objective and hypotheses: We report two patients with PWS and congenital abnormalities of kidney and urinary tract (CAKUT).Method: First case: male, born at 35 weeks with caesarian sectio...

hrp0094fc8.2 | Neuroendocrinology | ESPE2021

Recessive PRDM13 mutations result in hypogonadotropic hypogonadism and cerebellar hypoplasia

Gregory Louise C. , Whittaker Danielle E , Oleari Roberto , Quesne-Stabej Polona Le , Williams Hywel J. , UCL GOSgene , Torpiano John G , Formosa Nancy , Cachia Mario J. , Field Daniel , Lettieri Antonella , Ocaka Louise , De Martini Lisa Benedetta , Rajabali Sakina , Riegman Kimberley L. , Paganoni Alyssa J.J. , Chaya Taro , Robinson Iain C.A.F. , Furukawa Takahisa , Cariboni Anna , Basson M. Albert , Dattani Mehul T. ,

Three patients from two unrelated families in Malta; one consanguineous (siblings: Patient 1, male and Patient 2, female) and one non-consanguineous (Patient 3, male), manifested hypogonadotropic hypogonadism with delayed puberty, intellectual disability, scoliosis, and ataxia with cerebellar hypoplasia on MRI. GnRH tests revealed low peak LH and FSH concentrations in the patients: Patient 1; LH 2.3 IU/L, FSH 4.4 IU/L (14.3y), Patient 2; LH 3.6 IU/L, FSH 6.4 IU/L (12.5y), Pati...

hrp0089p2-p371 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

No Difference in Cognitive Performance or Gender Role Behaviour in Men with and without Hypospadias

Strandqvist Anna , Ortqvist Lisa , Frisen Louise , Nordenskjold Agneta , Herlitz Agneta , Nordenstrom Anna

Background: Hypospadias is a common malformation of male external genitalia, resulting in urethral displacement with different severity. Male genital development occurs during fetal development when also the brain is developing rapidly. Genital development is dependent on androgen effect, and androgens also have impact on gender development. We here explore whether hypospadias are associated with variation in other aspects of sex typical development.<p c...

hrp0084p2-312 | DSD | ESPE2015

Birth Weight in Different Aetiologies of Disorder of Sex Development

Poyrazoglu Sukran , Darendeliler Feyza , Ahmed Syed Faisal , Bryce Jillian , Jiang Jipu , Rodie Martina , Hiort Olaf , Hannema Sabine E , Bertelloni Silvano , Lisa Lidka , Guran Tulay , Hughes Ieuan , Cools Martine , Chatelain Pierre , Claahsen-van der Grinten Hedi L , Nordenstrom Anna , Holterhus Paul-Martin , Kohler Birgit , Niedziela Marek , Krone Nils

Background: It is well known that boys are heavier than girls at birth. Causes of this difference are thought to originate from the Y chromosome and as a result of androgen action. Although some studies showed that sex dimorphism in size at birth is dependent of fetal androgens, one study reported that it is not generated by action of androgens.Objective and hypotheses: To determine birth weight (BW) of children in different aetiologies of disorder of se...

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...

hrp0094yb2.1 | Year of Paediatric Endocrinology 2 | ESPE2021

DSD and Transgender - Updates 2021

Flueck Christa , Cools Martine , Nordenstrom Anna ,

In the past year, basic and genetic studies revealed again novel genes and mechanisms implicated in 46,XX and 46,XY DSD. The Fgf9-/- mouse model of human synostosis syndromes revealed an unexpected male-to-female sex reversal phenotype, so far not observed in humans. Specific heterozygous human WT1 gene variants located in the 4th zinc finger were found to cause 46,XX virilization due to (ovo-)testicular DSD, and the transcription factor...

hrp0089p1-p232 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Gonadectomy for Adults with DSD Conditions in the International Disorders of Sex Development Registry

Lucas-Herald Angela K , Kyriakou Andreas , Bryce Jillian , Rodie Martina , Acerini Carlo , Arlt Wiebke , Balsamo Antonio , Baronico Federico , Bertelloni Silvano , Brooke Antonia , Claahsen van der Grinten Hedi , Cools Martine , Darendeliler Feyza , Davies Justin H , Desloovere An , Ellaithi Mona , Fica Simona , Gawlik Aneta , Guran Tulay , Hannema Sabine , Hiort Olaf , Holterhus Paul-Martin , Iotova Violeta , Jennane Farida , Lachlan Katherine , Li Dejun , Lisa Lidka , Mazen Inas , Mladenov Wilchelm , Mohnike Klaus , Nedelea Lavinia , Niedziela Marek , Nordenstrom Anna , Poyrazoglu Sukran , Rey Rodolfo , Tadokoro-Cuccaro Rieko , Weintrob Naomi , Faisal Ahmed Syed

Introduction: Depending on the underlying diagnosis, Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell cancers. To date, however, knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The International-DSD (I-DSD) Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyo...

hrp0086p1-p816 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype

Santoro Elisa , Marini Romana , Novelli Antonio , Alesi Viola , Dentici Maria Lisa , Cappa Marco

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome characterized by postnatal growth retardation, intellectual disability, microcephaly, peculiar facial features, broad thumbs and big toes and other organs malformations. There are two forms: RSTS type 1 characterized by CREBBP gene mutations (16p13.3); RSTS type 2 dues to mutations/ deletions in EP300 gene (22q13.2). The type 2 is associated with mild phenotype with possible absence of the typical diagnost...

hrp0082p2-d3-479 | Hypoglycaemia | ESPE2014

The Majority of Late Presenting Congenital Hypoglycaemia Disorders are Really Missed Diagnosis: What Can we do to Improve Diagnosis in the New-Born Period?

Troung Lisa , Thornton Paul

Background: Patients with hyperinsulinism (HI) and anterior hypopituitarism often present in the new-born period (NBP). However up to 30% patients with HI and an unknown number with hypo-pit will present in the first year of life. Despite advances in care the long-term neurological outcome for patients with HI is poor in 20-40% cases.Aim: To retrospectively evaluate the care given during the NBP in a series of patients diagnosed with late presenting pote...