hrp0097rfc6.5 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Efficacy and security of gonadotropin treatment in adolescents with congenital hypogonadotropic hypogonadism

Sayol-Torres Laura , González Judith , Gonzalez Núria , Campos Ariadna , Mogas Eduard , Yeste Diego , Clemente Maria

Objective: To describe efficacy and security of treatment protocol with gonadotropins in adolescents with hypogonadotropic hypogonadism (HH).Methods: Prospective study of patients with HH who received hGH and rhFSH in puberty. HH diagnosed during first months of life or in adolescence (testicular volume<4cc in >16 year-old with FSH<1.2UI/L, testosterone<40ng/dL and GnRH-test with LH-peak<6UI/L)<p class...

hrp0097p1-479 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Early-life exposure to phthalates and minipuberty: is there any relationship?

Lucaccioni Laura , Palandri Lucia , Trevisani Viola , Righi Beatrice , Calandra Bonaura Filippo , Predieri Barbara , Righi Elena , Iughetti Lorenzo

Background: Nowadays, the role of minipuberty in influencing pubertal development is well documented. Phthalates are ubiquitous environmental contaminants and endocrine-disrupting chemicals (EDCs) with reproductive toxic effect. Aim of this study is to assess phthalate exposure within the first months of life in a cohort of healthy term infants and their mothers and the possible relationship with minipuberty.Methods: Sin...

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...

hrp0098fc9.6 | Sex Endocrinology and Gonads | ESPE2024

The Gender Identity Questionnaire for Children: a useful tool for gender identity detection in early life

Trevisani Viola , Lucaccioni Laura , Palandri Lucia , De Pasquale Lisa , Insalaco Anna , Bruzzi Patrizia , Predieri Barbara , Righi Elena , Iughetti Lorenzo

Background: Gender identity (GI) is the unified and persistent self-perception on the male-female spectrum, and its acquisition is a multifactorial process maybe influenced also by minipuberty. GI develops in early childhood and is consolidated around 3-4 years. Several tests assess GI as the Gender Identity Questionnaire for Children (GIQC). GIQC is intended for parents and aims to assess GI in both clinical and non-clinical populations. Aim of the research i...

hrp0098rfc5.1 | Growth and Syndromes | ESPE2024

About caring for patients and understanding their pathways: 10 years of ‘the rotterdam centre for adults with rare genetic syndromes’

Goos Jacqueline , Davidse Kirsten , Baan Janneke , Pellikaan Karlijn , Rosenberg Anna , Carrasco García Álvaro , Delhanty Patric , Visser Jenny , Graaff Laura

Introduction: Patients with rare genetic syndromes (RGS) often have a combination of hormone deficiencies, organ problems and neurodevelopmental disorders. Due to excellent paediatric care, a growing number of patients is reaching adult age. Transition of these patients to adult health care system has proved to be challenging. Due to the rarity and complexity of their syndromes, patients with RGS often suffer from medical complications due to needless diagnost...

hrp0098t4 | Top 20 Posters | ESPE2024

More than 15 years of activity of the Ghent pediatric gender service: trends in referrals and medical steps.

Ciancia Silvia , Klink Daniel , Craen Margarita , Heyse Robin , Dhont Karlien , Bruneel Laura , van Schuylenbergh Judith , Motmans Joz , Cools Martine

Background: Lately, pediatric gender services have been confronted with a steep and unexplained increase of transgender and gender diverse (TGD) youngsters seeking psychological support and eventually medical care. We report on the evolution of referrals to our clinic for first psychological assessment and the rates of medical transition.Methods: The whole cohort of youngsters undergoing a first psychological intake betw...

hrp0098p1-97 | Thyroid 1 | ESPE2024

Long term follow up of children with intrathyroidal ectopic thymus

Todisco Tommaso , Pedicelli Stefania , Ubertini Graziamaria , Bizzarri Carla , Grossi Armando , Bottaro Giorgia , Chioma Laura , Fntini Danilo , Loche Sandro , Cappa Marco

Background: Intrathyroidal ectopic thymus (IET) represents a relatively rare embryologic anomaly, often discovered incidentally in paediatric patients. The long-term outcome of IET is not completely clear and differentiation from thyroid nodules is crucial to prevent invasive diagnostic procedures and/or unnecessary surgical interventions. This prospective observational study aims to elucidate the clinical characteristics, diagnostic workup, and long-term outc...

hrp0098p1-193 | Sex Endocrinology and Gonads 2 | ESPE2024

Under the Lens: A Study of Childhood Gender Identity Through the Toy Preference Test and its relation to minipuberty

Lucaccioni Laura , Trevisani Viola , Errigo Denian , Palandri Lucia , De Pasquale Lisa , Bruzzi Patrizia , Predieri Barbara , Righi Elena , Iughetti Lorenzo

Background: Gender role behaviour refers to a set of behaviours that differ for boys and girls, although its source and development remain controversial. Gender differences in the choice of toys and activities are observed as early as 12 months. Ad hoc tests, such as the Toy Preference Test (TPT), have been developed to highlight gender differences in paediatric populations. The aim of our study was to investigate play behaviour, to determine which toys are mo...

hrp0098p1-261 | Growth and Syndromes 3 | ESPE2024

Recombinant Growth Hormone Therapy in Pediatric Renal Failure: 30-Year-Experience in a Tertiary Hospital

Martínez Castillo Iratxe , Aziz Mariana , Adragna Marta , Monteverde Marta , López Laura , Ibañez Juan , Gil Silvia

Introduction: Growth failure represents a clinical challenge in children with chronic kidney disease (CKD). rhGH proved to be effective to enhance growth in patients (p) under conservative treatment (CT), dialysis (D), or after renal transplantation (RT).Aims: To report the results of rhGH treatment (GHT) in pediatric patients with CKD over the last 30 years in a single pediatric tertiary center. Study rhGH effectiveness...

hrp0098p2-45 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Hereditary hypophosphatemic rickets with hypercalciuria: a rare disorder not to be forgotten about

Pontone Matteo , Barbato Alesssandro , Cerutti Matteo , Chiti Nicolò , Corbelli Laura , Rossi Alessio , Soldovieri Sara , Trinati Eugenio , Municchi Giovanna , Stagi Stefano

Background: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by rickets, muscle weakness, bone pain, nephrocalcinosis or nephrolithiasis. It is caused by mutation in SLC34A3 gene, encoding for renal sodium-phosphate cotransporter IIc (NaPi-IIc).Case: A patient aged 10 years came for evaluation for bone pain at lower limbs. He was born at full term from no...