hrp0097fc7.4 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

The effect of common genetic variants in CYP19A1 on serum Estradiol to Testosterone Ratio in healthy Danish children and adolescents

L. R. Groendahl Veronica , A. Holmboe Stine , S. Busch Alexander , Aksglaede Lise , P. Hagen Casper , H. Johannsen Trine , H. Petersen Jørgen , Almstrup Kristian , Frederiksen Hanne , Juul Anders

Background and Aim: Despite the broad individual variation of pubertal maturation, references traditionally describe growth in relation to just chronological age and not biological age. Hence, growth references for the adolescent period have been of limited usefulness for monitoring individual growth in clinic and for research. Especially for children and adolescents with chronic diseases is there a need to better evaluate if changes in SD-scores just before a...

hrp0097rfc5.2 | Diabetes and insulin 1 | ESPE2023

Comparison of Optical Coherence Tomography Angiography Findings in Children with Type 1 Diabetes Mellitus and Autoimmune Thyroiditis with Healthy Children

Anıl Korkmaz Hüseyin , Devebacak Ali , Mert Erbaş ibrahim , Değirmenci Cumali , Uyar Nilüfer , Afrashi Filiz , Özkan Behzat

Aim: The study aimed to assess the development of early diabetic retinopathy (DR), one of the microvascular complications, in patients with isolated type 1 diabetes mellitus (DM) (group 1), type 1 DM with a diagnosis of autoimmune thyroiditis (AT) (group 2), and healthy controls (group 3), which were matched for age, sex, number, and body mass index for comparison.Methods: In this prospective and observational study, gro...

hrp0097p1-168 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Parental perceptions and concerns in a cohort of infants with unoperated hypospadias

L. Leunbach Tina , Ernst Andreas , Wisniewski Amy , Berglund Agnethe , H. Gravholt Claus , Faisal Ahmed Syed , M. Hvistendahl Gitte , F. Rawashdeh Yazan

Background: Hypospadias surgery is usually performed during infancy at which time parents act as proxy decision makers. Parental decisional regret, a common phenomenon after hypospadias surgery, may be affected by the process of informed consent where decision making between parents and healthcare provider is shared based on available evidence and individual concerns.Objective: To identify short- and long-term parental c...

hrp0097p1-391 | Thyroid | ESPE2023

Molecular Genetic Causes In Elevated TSH: Frequency And Genotype-Phenotype Characteristics

Gül Balki Hanife , Parıltay Erhan , Özalp Kızılay Deniz , Gökşen Damla , Darcan Şükran , Özen Samim

Introduction: The most common cause of elevated TSH is iodine deficiency, and other common causes are drug use, systemic diseases, and underlying genetic conditions.Objective: We aimed to investigate molecular genetic etiology, genotype-phenotype relationships and the follow-up data in cases with elevated TSH initiated on L-thyroxine treatmentMethods: We retrospectively evaluated c...

hrp0097lb14 | Late Breaking | ESPE2023

Prevalence and risk factors of bone problems in children with supratentorial midline Low Grade Glioma.

van Roessel IMAA , Gorter JE , Bakker B , van den Heuvel - Eibrink MM , Lequin MH , van der Lugt J , Meijer L , Schouten - van Meeteren AYN , van Santen

HM

Introduction: Children with cancer are at increased risk of endocrine complications, especially children with a brain tumor. One of these late effects includes bone disorders (ranging from low bone mineral density (BMD) to osteoporosis). Children with a suprasellar Low Grade Glioma (LGG) may be especially at risk for bone problems due to exposure to multiple treatment modalities, hypothalamic dysfunction and/or decreased mobility in combination with vision los...

hrp0097p2-160 | Adrenals and HPA Axis | ESPE2023

Factors Influencing the Final Height of Congenital Adrenal Hyperplasia Patients

Gül Balkı Hanife , Arslan Emrullah , Jalilova Arzu , Özalp Kızılay Deniz , Özen Samim , Gökşen Damla , Darcan Şükran

Introduction: CAH is a common clinical condition with treatment and follow-up challenges. As a result, the adult height of the cases is known to be affected. We aimed to assess the growth and pubertal development of CAH patients and the factors that influence final height.Method: Between 1980-2022, 41 patients diagnosed with CAH were observed at our clinic. Only cases that attained the final height were retrospectively a...

hrp0098fc1.6 | Diabetes and Insulin | ESPE2024

Comprehensive rescreening of the known congenital hyperinsulinism genes provides a new genetic diagnosis for 18% of the Finnish cohort

M E Männistö Jonna , A L Houghton Jayne , Keskinen Päivi , Hopkins Jasmin , Raivo Joose , Otonkoski Timo , Huopio Hanna , E Flanagan Sarah

Background: Congenital hyperinsulinism (HI) is a group of insulin secretion disorders with highly heterogeneous genetic aetiologies, which may significantly impact on treatment and follow-up. Genetic diagnosis is unsolved in up to 50% of the individuals, but the benefits of retesting including all the recent genetic discoveries has not been previously assessed.Aim: We examined the effectiveness of rescreening the known H...

hrp0098fc7.6 | GH and IGFs | ESPE2024

Growth, IGF-1 and IGFBP-3 Responses to Oral LUM-201 in OraGrowtH210 and OraGrowtH212 Trials in Pediatric Growth Hormone Deficiency (PGHD) over 12 to 24 Months on Treatment

Petriczko Elzbieta , Cassorla Fernando , Investigator Group OraGrowtH210 , Research Team OraGrowtH212 , Bruchey Aleksandra , Smith Christopher , L. Brincks Erik , C. McKew John , O. Thorner Michael , “Duke” Pitukcheewanont Pisit

Background: LUM-201, a potent long-acting oral GH secretagogue (GHS), acts on the GHS Receptor-1a to induce GH secretion. The best candidates for this investigative oral treatment are pre-pubertal children with moderate GHD (standard stimulation testing peak GH between ≥3 <10ng/ml) that respond positively to the LUM-201 Predictive Enrichment Marker (PEM) test (Bright et al JES, 2021). PEM positive responders have basal serum IGF-1 >30ng/ml and a peak ...

hrp0098rfc10.6 | Multisystem Endocrine Disorders | ESPE2024

Different Faces of Carney Complex: Report of Three Cases

Altun Ilayda , Bayramoglu Elvan , Dagdeviren Aydilek , Karakas Hasan , Ucar Mert , Velioglu Haslak Gökce , Bingöl Aydın Dilek , Evlıyaoglu Olcay , Turan Hande

Carney Complex (CNC) is a rare genetic disorder characterized by multiple endocrine and nonendocrine neoplastic manifestations across various organ systems, primarily driven by mutations in the PRKAR1A gene. The most common clinical effects are on the adrenocortical axis. This study seeks to dissect the clinical heterogeneity observed in CNC patients with PRKAR1A mutations, emphasizing the adrenocortical axis and its impacts on patient outcomes.C...

hrp0098p1-9 | Adrenals and HPA Axis 1 | ESPE2024

Exploring the Long-Term Consequences of Congenital Adrenal Hyperplasia: First Study of Testicular Adrenal Rest Tumors Profile in Indonesia

Angelina Chandra Epifani , Utari Agustini , P.H. Adriaansen Bas , Westra Dineke , Hendara Ningrum Farah , Eduard van Herwaarden Antonius , L. Claahsen-van der Grinten Hedi

Background: Late identification of male patients with congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency (21OHD) can increase the risk of developing a benign tumor near the mediastinum testes called testicular adrenal rest tumors (TART), that can cause infertility. However, these long-term consequences of 21OHD have not yet been studied in Indonesia.Objective: This study aims to elucidate the prevalenc...