hrp0097p2-114 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Tailored daily transdermal testosterone treatment before hypospadias surgical repairing: preliminary data of a single center study

Lucaccioni Laura , Insalaco Anna , Vandelli Sara , Ghidini Filippo , Trevisani Viola , F. Madeo Simona , Luca Ceccarelli Pier , Iughetti Lorenzo

Background: Hypospadias is one of the most common congenital anomalies in males. Surgical repairing aims to improve the aesthetic and functional outcome. The success rate of hypospadias repairing is variable according to the severity of the malformation with a complication rate(CR) of almost 60% in proximal forms. Testosterone treatment before surgery is still controversial and its impact on surgical outcomes, and the best regimen for administration, is unclea...

hrp0098t8 | Top 20 Posters | ESPE2024

Predicting the risk of fragility fractures in childhood hematologic cancer survivors

Cima Luminita-Nicoleta , Iustina Grosu , Oprescu Raluca , Soare Iulia , Gabriela Barbu Carmen , Colita Anca , Jercan Cristina , Serbanica Andreea , Fica Simona

Background: Childhood hematologic malignancies are no longer a death sentence. With survival rates significantly increasing, focus needs to shift towards diminishing long-term adverse effects, such as bone disorders. In childhood hematologic cancer survivors (CHCS), peak bone mass is not usually attained due to malginancy-related inflammation, treatments employed or subsequent endocrine complications. Thus, low BMD is frequent. However, in the absence of fragi...

hrp0098p2-288 | Thyroid | ESPE2024

BRAF mutation in a pediatric patient incidentally discovered with papillary thyroid cancer- case report

Cima Luminita-Nicoleta , Dumitrache Sabina , Grosu Iustina , Oprescu Raluca , Zubaci Ana , Iliescu Marina , Puscasu Diana , Gabriela Barbu Carmen , Fica Simona

Introduction: Papillary thyroid carcinoma (PTC) in the pediatric and young adult population presents contradictory features: it shows higher rates of multifocal disease, local and distant metastasis, and recurrence compared to adults, yet the overall 5-year survival rate remains exceptionally high at 98-100%. In children, RET/PTC rearrangements are the major somatic genetic alterations that drive the formation of PTC. On the other hand, mutations in <...

hrp0098p3-309 | Late Breaking | ESPE2024

Metreleptin dramatically improves the metabolic pattern in a patient with mandibuloacral dysplasia progeroid syndrome (MADaM).

Filomena Madeo Simona , Rita Di Biase Anna , Grippa Mina , Trevisani Viola , Lucaccioni Laura , Calabrese Olga , Iughetti Lorenzo

Background: MADaM syndrome associated with MTX2 gene, is a very rare premature-aging syndrome, caused by a homozygous mutation in the MTX2 gene, which encodes for metaxin-2, a mitochondrial outer membrane protein involved in protein translocation into mitochondria and in TNF-a- induced apoptosis.Case report: Term male newborn, due to a physiological pregnancy [birth weight 4230 g (1.61 SD), length 56 cm (3.24 SD), head c...

hrp0086p1-p338 | Gonads &amp; DSD P1 | ESPE2016

Primary Ovarian Insufficiency in Childhood Cancer Survivors: A Report from the St Jude Lifetime Cohort (SJLIFE)

Chemaitilly Wassim , Li Zhenghong , Krasin Matthew , Wilson Carmen , Green Daniel , Klosky James , Barnes Nicole , Clark Karen , Frenandez-Pineda Israel , Metzger Monika , Ching-Hon Pui , Kirsten Ness , Kumar Srivastava Deo , Robison Leslie , Hudson Melissa , Sklar Charles , Yasui Yutaka

Background: Primary Ovarian Insufficiency (POI) and infertility are common concerns of female Childhood Cancer Survivors (CCS) and are known to impact their quality of life. Increased availability of fertility preservation techniques mandate a better understanding of risk factors for POI in this population.Objective and hypotheses: To describe the prevalence of and risk factors for POI in a cohort of adult CCS.Method: Cross-section...

hrp0097p1-495 | GH and IGFs | ESPE2023

Difficulties in interpreting insulin-like growth factor 1 (IGF-1) levels in short stature children born small for gestational age (SGA) treated with recombinant human growth hormone (rhGH) based on data from six clinical centres in Poland.

Glińska Marta , Walczak Mieczysław , Wikiera Beata , Pyrżak Beata , Majcher Anna , Paluchowska Monika , Gawlik Aneta , Antosz Aleksandra , Kusz Marcin , Bossowski Artur , Stożek Karolina , Wędrychowicz Anna , Starzyk Jerzy , Petriczko Elżbieta

Introduction: The assessment of IGF-1 concentrations is one of the parameters used for evaluating response to rhGH treatment. An increase in IGF-1 concentration positively correlates with growth improvement. The IGF-1 concentrations significantly above the reference range may increase total the risk of possible side effects. High IGF-1 concentration is one of the reasons for rhGH dose reduction which affects the response to treatment.<st...

hrp0098p1-255 | Growth and Syndromes 3 | ESPE2024

Health and life risks in children with achondroplasia – multicenter study.

Wrobel Wiktoria , Bossowski Artur , Cichon-Kotek Monika , Erazmus Michal , Gawlik-Starzyk Aneta , Mysliwiec Malgorzata , Petriczko Elzbieta , Pietrusik Agnieszka , Pyrzak Beata , Stawerska Renata , Smigiel Robert , Walczak Mieczyslaw , Wojcik Malgorzata , Zachurzok Agnieszka , Ben-Skowronek Iwona

Background: Achondroplasia is a genetic disorder that belongs to a large group of skeletal dysplasias that is caused by a missense mutation in the gene encoding FGFR-3 resulting in its constitutive upregulating. This interferes with the receptor's tyrosine kinase domain causing inhibition of cartilage tissue cells and the formation of abnormalities in the bone growth plate leading to defective skeletal development and a disproportionately short stature wi...

hrp0095p1-51 | Diabetes and Insulin | ESPE2022

Health-related quality of life and metabolic control in children and young patients with type 1 diabetes and in their parents before and after the COVID-19 lockdown.

Predieri Barbara , Bruzzi Patrizia , Candia Francesco , Caccamo Paola , Sandoni Marcello , Stefanelli Francesca , Pugliese Marisa , Lucaccioni Laura , F. Madeo Simona , Iughetti Lorenzo

Introduction: Italy was the first EU country to be affected by COVID-19 outbreak. The sudden change in everyday life was challenging for children and young people (CYP) who rely heavily on peer connections for emotional and social support. Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of CYP with T1D and their parents...

hrp0095p2-70 | Diabetes and Insulin | ESPE2022

Familial Genetic Syndrome of Severe Insulin Resistance and Hyperandrogenemia in a young girl with Polycystic Ovary Morphology

Patriciu Zubascu Gheorghita , Florina Predescu Andrada , Maria Stancu Ana , Tarna Mihaela , Nicoleta Cima Luminita , Alnuaimi Osama , Tincuta Petca Aida , Plaiasu Vasilica , Fica Simona , plate and mineral metabolism growth

Introduction: Signs of hyperandrogenemia are common through adolescent and young females, hirsutism affecting 5% of reproductive -aged women. The most common cause of hyperandrogenemia and insulin resistance (IR) is polycystic ovary syndrome (PCOS) (1). The differential diagnosis includes congenital adrenal hyperplasia (CAH) (2), androgen secreting tumors, but also very rare genetic syndromes of IR.Case report: A 13 year...

hrp0095p2-214 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central precocious puberty - an unusual paraneoplastic manifestation of a nephroblastoma?

Stancu Ana-Maria , Gheorghita Zubascu Patriciu , Iliescu Marina , Tarna Mihaela , Andrei Marian , Comsa Codruta , Antonie Lavinia , Nicoleta Cima Luminita , Fica Simona

Introduction: Nephroblastoma or Wilms tumor is the most common pediatric abdominal malignancy. Typically, it is found in children younger than 5 years old, girls being more likely to have Wilms tumor than boys. The etiology of the disease is genetic, due to alteration in the development of the genitourinary tract.[1] Treatment is represented by surgery (unilateral nephrectomy), chemo- and radio-therapy. Paraneoplastic endocrine disorders may occur, but there a...