hrp0092p2-90 | Diabetes and Insulin | ESPE2019

Neonatal Diabetes in Two Siblings with Foxp3 Variant

Colombi Carolina , Tornese Virginia , Pott Godoy Clara , Peña Sonia , De Franco Elisa , Guntsche Zelmira

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. This factor plays a key role in the differentiation and function of CD4+ CD25+ regulatory T cells, essential for the establishment and maintenance of natural tolerance.Objective: To describe clinic...

hrp0094p2-408 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Plexiform neurofibroma of the penis as an infrequent manifestation debut in a pediatric patient

Peña Fernanda , Martínez Alejandro , García Cristian , Dossi Teresa , Kolbach Marianne , Mellado Cecilia , Baquedano Paulina

Background: Neurofibromatosis type 1 (NF1) caused by loss of function mutation in the NF1 gene; leads to the hyperactivation of RAS and its downstream mediators and contributes to tumour formation. The main manifestations of NF1 are café au lait macule, axillary and/or inguinal freckling. Neurofibroma plexiform is specific for NF1 and identified on the face and trunk. Urogenital presentation is infrequent in the penis. Identification of this lesion is essential because it...

hrp0086p1-p805 | Syndromes: Mechanisms and Management P1 | ESPE2016

Percutaneous Epiphysiodesis Around the Knee Effectively Reduced Predicted Excessive Final Height. Preliminary Results on Final Height, Complications and Satisfaction in a Large Cohort of Dutch Boys and Girls

Goedegebuure Wesley , van der Steen Marieke , Jonkers Frank , Bakker-van Waarde Willy , Odink Roelof

Background: Percutaneous epiphysiodesis (PE) around the knee is the treatment of choice in the Netherlands to reduce predicted excessive final height. Studies until now are limited, had small numbers of patients and short follow-up periods.Objective and hypotheses: This nationwide Dutch long-term retrospective follow-up study aimed to assess final height (FH), complications and satisfaction after PE. Primary hypothesis was: ‘The PE around the knee i...

hrp0092p1-290 | Thyroid (1) | ESPE2019

Prediction of Permanent and Transient Congenital Hypothyroidism Based on Levothyroxine Dosages in Long-Term Follow-Up Patients: A Multicenter Retrospective Study in Japan

Higuchi Shinji , Itonaga Tomoyo , Shimura Kazuhiro , Nagasaki Keisuke , Satoh Mari , Takubo Noriyuki , Takahashi Ikuko , Sawada Hirotake , Hasegawa Yukihiro

Background: Congenital hypothyroidism (CH) can be categorized into two types: transient CH (group T) and permanent CH (group P). Several studies have recently demonstrated that the levothyroxine (LT4) dosage is useful for predicting LT4 requirement; however, none of the studies followed up their patients to puberty.Objective: To determine the cutoff value for the LT4 dosage as a predictor of LT4 requirement after puberty...

hrp0094p2-260 | Growth hormone and IGFs | ESPE2021

Current growth hormone therapy practices in Belgium for the treatment of short children born small for gestational age

Thomas Muriel , Casteels Kristina , Rochtus Anne , van der Straaten Saskia , Van Aken Sara) , Fudvoye Julie , Boros Emese , Dotremont Hilde , Vanbesien Jesse , Mouraux Thierry , Chivu Olimpia , Logghe Karl , Reynaert Nele , Massa Guy , Depoorter Sylvia , Klink Daniel , Becker Marianne , Lysy Philippe , De Schepper Jean ,

Background and Aim: Recombinant growth hormone (GH) is reimbursed for the treatment of short stature (<-2.5 Z-score) in children born small for gestational age (SGA) without postnatal growth, aged ≥ 4 years with a height Z-score >1 below mid-parental height (MPH). We wanted to determine the current GH prescribing practices by pediatric endocrinologists (PE) for SGA related short stature and document the percentages of treated children at risk for...

hrp0095fc6.6 | Sex Development and Gonads | ESPE2022

Breast ultrasonography: How useful in the diagnosis of precocious puberty?

Helvacıoğlu Didem , Bıyıklı Erhan , Buğdaycı Onur , Turan Serap Demircioğlu , Güran Tülay , Bereket Abdullah

Context: Assessment of breast development by physical examination(PE) can be difficult especially in overweight girls and in early stages. We aimed to study ultrasonography(USG) on evaluation of breast tissue in girls with breast development< 8 years of age.Patients and Methods: In this prospective study, 125 girls (age 7.1&pm;1.5 years) with early breast development were evaluated by breast USG for ultrasonographic b...

hrp0084wg5.5 | Paediatric and Adolescent Gynaecology | ESPE2015

Uterus Transplantation with Live Births – An Update

Brannstrom Mats

The last frontier to conquer in female infertility is absolute uterine factor infertility (AUFI), affecting more than 10 000 women in the UK. Uterine transplantation (UTx) is now the first available treatment for this large group of women. Adoption and gestational surrogacy are other means to obtain motherhood, but the acceptances of these arrangements in the society vary greatly between societies. Our research group initiated a step-by-step developmental animal-based research...

hrp0086p1-p196 | Diabetes P1 | ESPE2016

Development of Type 1 Diabetes in a Child with Inherited CD59 Deficiency Treated with Eculizumab

Koca Serkan Bilge , Ozon Alev , Alikasifoglu Ayfer , Haliloglu Goknur , Topaloglu Haluk

Background: CD59 is a complement regulatory protein which inhibits membrane attack complex protecting self-cells from complement-mediated damage. Recent evidence suggests CD59 may suppress T cell activation via a complement-independent mechanism. Other than an immune regulator, CD59 is shown to regulate glucose stimulated insulin secretion. Herein we report a patient with inherited CD59 deficiency who developed type 1 diabetes.Case: 11 year-old girl was ...

hrp0084p2-430 | GH &amp; IGF | ESPE2015

Analysis of CD133+CD45+ Hematopoietic Progenitor/Stem Cells and CD133+/CD45- Very Small Embryonic-Like Stem Cells in Children with GH Deficiency Subjected to GH Therapy

Bossowski A , Singh P , Grubczak K , Radzikowska U , Sawicka B , Miklasz P , Dabrowska M , Bossowska A , Moniuszko M

Background: GH deficiency (GHD) is an endocrine condition, caused by problems arising in the pituitary gland that does not produce sufficient quantities of GH. GHD is treated by replacing GH with one daily injections. Recent studies suggested that GH could be involved in regulation of certain stem cell subset potential and function. However, the exact effects of GH therapy on biology of stem cells in paediatric patients were not studied in detail.Methods...

hrp0084p3-1195 | Thyroid | ESPE2015

The Evaluation of CD8+CD122+T Cells in Children with Autoimmune Thyroiditis

Kucharska Anna , Stelmaszczyk-Emmel Anna , Popko Katarzyna , Pyrzak Beata , Kadziela Katarzyna

Background: The basic subset of T cells playing a major role in the pathogenesis of Hashimoto’s thyroiditis are CD8+T cells. The mechanism of disease initiation is dysfunction of natural Tregs leading to breakdown of the self-tolerance. The best known subset of natural Tregs are CD4+Foxp3+T, but CD8+T cells expressing CD122 were also recognized as functional Treg cells.Objective and hypotheses: The aimof the study was to evaluate the contribution of...