hrp0084p3-1090 | Perinatal | ESPE2015

Crystal Formation in the Meibomian Glands as Diagnostic Proof of Pseudohypoaldosteronism Type I

van der Werf-Grohmann Natascha , Lausch Ekkehart , Wurm Michael , Kannan Cecil , Fuchs Hans , Spiekerkotter Ute , Schwab Karl Otfried

Background: Pseudohypoaldosteronism type I (PHA1) is a rare disease of mineralocorticoid resistance (MR). Neonatal manifestation leads to life-threatening dehydration due to massive salt-loss, acidosis and frequently, failure to thrive. Two clinically and genetically distinct forms exist, namely systemic and renal PHA1 caused by mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and mineralocorticoid recep...

hrp0094p1-54 | Bone B | ESPE2021

Decreased bone mineral density in children receiving long-term anticoagulation is associated with pubertal development

Raimann Adalbert , Patsch Janina , Weber Michael , Haufler Florentina , Pees Christiane , Albinni Sulaima , Male Christoph , Haeusler Gabriele , Thom Katharina ,

Background: Children and adolescents with chronic conditions are at increased risk of secondary osteoporosis. In adult patients, long-term anticoagulation (LTA) including Vitamin K antagonist (VKA) treatment is associated with lower bone mineral density and hip fractures. In children and adolsescent, risk factors for impaired skeletal health and the role of LTA on bone metabolism during the vulnerable phase of linear bone growth remain poorly defined.<p cl...

hrp0094p2-2 | Adrenals and HPA Axis | ESPE2021

How do urine steroid metabolites of spot samples correlate with 24 hour urine specimens in children with congenital adrenal hyperplasia?

Sommer Grit , Abawi Ozair , Groessl Michael , Halbsguth Ulrike , Charmandari Evangelia , Akker Erika L.T. van den , Fluck Christa E. ,

Introduction: Steroid profiling in children with congenital adrenal hyperplasia (CAH) is used to monitor the balance between androgen and cortisol metabolites and to decide on the optimal glucocorticoid dosage. Twenty-four hour collection is the gold standard for measurement of steroid metabolites in urine, because steroid production follows a circadian rhythm and is influenced by short-term stress and steroid drugs. For some children, e.g. those who were diap...

hrp0097fc9.1 | Diabetes and insulin 2 | ESPE2023

Reference values for the insulin response to glucose challenge enable the early detection of emerging (pre)diabetes in children and young adults with obesity

Stein Robert , Vogel Mandy , Stanik Juraj , Kratzsch Jürgen , Stumvoll Michael , Blüher Matthias , Kiess Wieland , Körner Antje

Background: The course of type 2 diabetes is more severe among children with obesity than among adults. Therefore, children at high risk for glycemic deterioration should be detected early enough to guide preventive (and interventional) clinical management.Methods: We established age- and puberty-specific reference values for 7 different indexes addressing the insulin response during oral glucose tolerance testing upon 4...

hrp0097fc11.5 | GH and IGFs | ESPE2023

Effective GH Replacement with Once-weekly Somapacitan in Japanese Children with GH Deficiency: 2-year Results from REAL4

Ohata Yasuhisa , Mori Jun , Fujisawa Yasuko , Sato Yukihito , Röhrich Sebastian , Højby Rasmussen Michael , Beck Bang Rikke , Horikawa Reiko

Growth hormone deficiency (GHD) in children results in reduced adult height. Children with GHD typically require daily subcutaneous (s.c.) injections of growth hormone (GH). Daily injections are burdensome for both patients and their caregivers and reduced adherence negatively impacts clinical outcomes. Somapacitan (Novo Nordisk) is a long-acting reversible albumin-binding human GH derivative in development for once-weekly s.c. administration in children with GHD, aiming to ov...

hrp0097t11 | Section | ESPE2023

The serum steroid signature of PCOS hints at the involvement of novel pathways for excess androgen biosynthesis

Murat Altinkilic Emre , du Toit Therina , Sakin Onder , Attar Rukset , Grössl Michael , E. Flück Christa

Context: Polycystic ovary syndrome (PCOS) is defined by androgen excess and ovarian dysfunction in the absence of a specific physiological diagnosis. The best clinical marker of androgen excess is hirsutism, while the best biochemical parameter is still a matter of debate. Current consensus guidelines recommend serum free testosterone as the most sensitive serum parameter to measure androgen excess. Recently, however, novel active androgens and androgen metabo...

hrp0097t20 | Section | ESPE2023

Hyperparathyroidism is associated with inferior event free survival in lymphatic childhood malignancies in a single center retrospective analysis

Grasemann Corinna , Höppner Jakob , Tippelt Stephan , Grabow Desiree , Cario Gunnar , Zimmermann Martin , Reinhardt Dirk , M Schündeln Michael

Introduction: Vitamin D status is investigated as a modifier for the risk and course of multiple malignant diseases. Findings point towards a detrimental role of low vitamin D levels for event free and overall survival (EFS/OS). However, vitamin D deficiency is often associated with secondary hyperparathyroidism, which may influence EFS/OS in childhood malignancies.Methods: Real world data from 1547 cases (873 male) of c...

hrp0098p1-68 | Growth and Syndromes 1 | ESPE2024

Impact of Idiopathic Short Stature (ISS) on children’s well-being.

Juul Anders , Linglart Agnes , Højby Rasmussen Michael , Lund Leunbach Tina , Pietropoli Alberto , Pedersen Mikkel , de Fries Jensen Lasse

Introduction: Idiopathic short stature (ISS) is characterized by a reduced height (at least 2 standard deviation scores [SDS]) from expected norms based on age, sex, and population-specific height standards in the absence of growth hormone (GH) deficiency or other known etiologies. ISS is a registered indication for GH therapy in USA but not in Europe. The psychosocial burden of ISS remains underexplored, including its impact on quality of life. Using National...

hrp0098p1-77 | Multisystem Endocrinology | ESPE2024

An atypical presentation of McCune Albright syndrome

Bonnet Nicolas , Laurent Romain , Van-Nieuwenhuyse Jean-Paul , Becker Marianne , De Beaufort Carine , Schierloh Ulrike , Witsch Michael , Ghaddhab Chiraz

McCune-Albright syndrome (MAS) is a rare genetic disorder caused by somatic activating mutations in the GNAS gene. Depending on the embryonic stages at which the mutation occurs, the phenotype of MAS may vary widely. Typical features include polyostotic fibrous dysplasia, café-au-lait skin lesions and multiple endocrinopathies, most frequently a peripheral precocious puberty. More rarely, patients have a liver involvement. We report the case of a 2 years-old boy with a ...

hrp0095fc6.2 | Sex Development and Gonads | ESPE2022

Predictive value of ovarian reserve parameters for follicle detection in ovarian tissue cryopreservation

Gruber Noah , Zajicek Michal , Volodarsky-Perel Alexander , Shai Daniel , Dick-Necula Daniela , Raanani Hila , Karplus Gideon , Kassif Eran , Weisz Boaz , Meirow Dror

Introduction: In youth, primary ovarian insufficiency (POI) is due to genetic, autoimmune, iatrogenic, and idiopathic etiologies. When POI is diagnosed early with evidence of an ovarian reserve, fertility preservation can be offered. When the girl is premenarchal, the preferred fertility preservation method is ovarian tissue cryopreservation (OTC) containing primordial follicles. In the past, when OTC was performed in an unselected group of children and adoles...