hrp0094p2-68 | Bone, growth plate and mineral metabolism | ESPE2021

Mutational analysis and genotype-phenotype correlation of the PHEX gene in Brazilian patients with X-linked hypophosphatemic rickets

Samartino Ana , Azevedo Eduardo , Peixinho Julha , Marcatto Fernanda , Silva Isabella , Nunes Julia , Carneiro Zumira , Hirose Thiago , Lourenco Charles ,

Background: X-Linked hypophosphatemic rickets (XLH) is a disorder of phosphate homeostasis, characterized by renal phosphate wasting and hypophosphatemia, with normal to low 1,25-dihydroxy vitamin D3 serum levels. PHEX is the gene defective in XLH and different mutations and genomic rearrangements have been described in different families affected by this disease.Objectives: To detect inactivating mutations in the PHEX g...

hrp0098p1-175 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Current Practice of Managing Hypogonadotropic Hypogonadism in Male Infants during Minipuberty – an International Survey

Laurer Elisabeth , Rohayem Julia , Heger Sabine , Hoegler Wolfgang , Castro Sebastian , Rey Rodolfo , Nordenström Anna , Howard Sasha

The activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first six months of life in boys marks the period of “mini-puberty”. It is characterized by a surge of gonadotropins, testosterone, and an increase of Sertoli cells and germ cells, crucial for future reproductive capacity. Boys with severe congenital hypogonadotropic hypogonadism (CHH) often present with undescended testes and micropenis and lack mini-puberty, leading to impaired responses t...

hrp0098p2-210 | Multisystem Endocrine Disorders | ESPE2024

Endocrine Phenotypic Variability in Schaaf-Yang Syndrome: Insights from a Case Series

Goldman Shira , Gruber Noah , Mazor Aronovitch Kineret , Katz Julia , Pode-Shakked Ben , Rein-Rothschild Annick , Pinhas-Hamiel Orit

Introduction: Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder first identified in 2013, characterized by features overlapping with Prader-Willi syndrome (PWS) but distinguished by unique symptoms, such as joint contractures and high rates of autism spectrum disorder (ASD). SYS is caused by pathogenic heterozygous variants in the paternally-derived MAGEL2 allele. We sought to describe a case series of three SYS patients, highlighting t...

hrp0098p2-379 | Late Breaking | ESPE2024

Hypothalamic obesity following craniopharyngioma surgery; what is the role of hypothalamic inflammation and gliosis?

Yurddas Doga , A.J. Nievelstein Rutger , Bison Brigitte , Hulsmann Sanne , Beckhaus Julia , L. Muller Hermann , M. van Santen Hanneke

Background: Childhood craniopharyngioma (cCP) poses significant risks of hypothalamic damage, leading to severe obesity in up to 75% of survivors. Despite hypothalamus-sparing surgical techniques, hypothalamic obesity remains a prevalent issue. We aim ed to fill a critical gap by exploring the presence of hypothalamic inflammation and gliosis following cCP surgery on MRI. In the future we will correlate our findings to subsequent hypothalamic dysfunction and o...

hrp0095rfc3.5 | Early Life and Multisystem Endocrinology | ESPE2022

Chronotropic Insufficiency impairs Cardiorespiratory Fitness in Boys and Adolescents with Klinefelter Syndrome

Spiekermann Julia , Höppner Jakob , Sinningen Kathrin , Hanusch Beatrice , Brinkmann Folke , Schündeln Michael M. , Kleber Michaela , Kiewert Cordula , Grasemann Corinna

Background: Klinefelter syndrome (KS) is associated with an increased metabolic and cardiovascular risk profile1,2 and a metabolic syndrome is evident at a prepubertal age in 10% of the affected boys. Boys with KS tend to avoid competitive sports and describe themselves as ‘not good at sports’. Cardiopulmonary fitness in adults with KS has been found to be compromised by chronotropic insufficiency (CI) and a reduced maximal oxygen uptake...

hrp0092fc14.1 | GH and IGF1 | ESPE2019

Inhibition of IGF1R by IGF1R/IR Inhibitor OSI906 as a Targeted Therapy for Glioblastoma: in vitro & in vivo Studies

Fernandez Maria Celia , Martin Ayelen , Clément Florencia , Venara Marcela , Fernanda Castro Julia , Lombardi Mercedes Garcia , Bergadá Ignacio , Pennisi Patricia

Background: CNS tumours are the most frequent solid tumours in children. In pediatric gliomas, IGF1R nuclear localization was significantly associated with both high grade tumours and increased risk of death and contributed to the aggressive phenotype of glioblastoma by increasing motility and metabolism of tumour cells rather than increasing its proliferation. For children chemotherapy after surgical resection is the mainstay of therapy. However, the best reg...

hrp0092rfc11.5 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

IGF-1 Serum Concentrations and Growth in Children with Congenital Leptin Deficiency (CLD) Before and After Replacement Therapy with Metreleptin

Beghini Marianna , von Schnurbein Julia , Körber Ingrid , Brandt Stephanie , Kohlsdorf Katja , Vollbach Heike , Lennerz Belinda , Denzer Christian , Wabitsch Martin

Background: Leptin, primarily secreted by adipocytes, is a pivotal signal of the body's energy status and exhibits pleiotropic effects. Homozygous mutations in the leptin gene which result in defective synthesis, release or bioactivity, cause intense hyperphagia and early-onset severe obesity, along with multiple metabolic, hormonal, and immunological abnormalities. In vitro and animal model studies suggest that leptin plays a role in linear growth. So far...

hrp0092p1-261 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Long-Term Urological and Psychosexual Outcome of Men Born with Hypospadias

Tack Lloyd , Van Hoecke Eline , Springer Alexander , Riedl Stefan , Tonnhofer Ursula , Weninger Julia , Hiess Manuela , Van Laecke Erik , Hoebeke Piet , Spinoit Anne-Françoise , Cools Martine

Introduction: According to EAU's guidelines, hypospadias (HS) repair is best performed between 6 and 18 months of age. Little is known about the long-term patient satisfaction or urological outcome following HS surgery.Aims: To examine the psychosexual and urological outcome of young adult men (16-21 years old) born with all forms of non-syndromic HS as compared to healthy controls, as well as patient and parental sa...

hrp0092p1-271 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Endocrine and Reproductive Outcome of Men Born with Various Degrees of Hypospadias

Tack Lloyd , Springer Alexander , Mahmoud Ahmed , Tilleman Kelly , Riedl Stefan , Tonnhofer Ursula , Hiess Manuela , Weninger Julia , Van Laecke Erik , Hoebeke Piet , Spinoit Anne-Françoise , Cools Martine

Introduction: Limited, small-scale studies have revealed that men with proximal hypospadias (HS) or with other signs of undermasculinisation (i.e. complex HS) are at risk of reduced fertility and/or impaired testicular hormone synthesis. However, the extent of this phenomenon and if milder forms of isolated HS are also affected, remains unclear.Aims: To explore reproductive hormones and semen quality of young men (16-21 ...

hrp0089rfc6.4 | Fat, Metabolism and Obesity | ESPE2018

Functionality and Phenotypic Characteristics of Mutations in the Human Leptin Receptor

Nunziata Adriana , Funcke Jan-Bernd , Borck Guntram , von Schnurbein Julia , Lennerz Belinda , Moepps Barbara , Gierschik Peter , Fischer-Posovszky Pamela , Wabitsch Martin

Objective: Merge and standardize the scarce data on molecular and phenotypic findings of mutations in the human leptin receptor (LEPR) gene causing a rare form of severe early-onset obesity.Methods: We summarized functional and phenotypic traits of LEPR mutations reported in the literature in a structured and comprehensive manner. Additional data was obtained from 6 subjects of our outpatient clinic not reported so far. Functionality of mutations was ass...