hrp0098fc13.6 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Voice frequency in healthy children and adolescents: A biomarker of androgen action in puberty

A Holmboe Stine , Vilmann Lea , R Grøndahl Veronica , E. Thomsen Charlotte , Ø. Fritzbøger Andrés , Edström Pernille , S. Busch Alexander , Aksglaede Lise , P. Hagen Casper , Juul Anders

Introduction: The pubertal transition is accompanied by voice break in boys. Studies asking men to retrospectively recall their age at voice break report an average age of voice break corresponding to 13.4-14.0 years. However, it may be difficult to remember precisely when your voice broke, and recall bias is quite large. Little is known about voice frequency in boys and girls in relation to pubertal timing.Aim: To asses...

hrp0098fc15.2 | Late Breaking | ESPE2024

Amount and Pattern Of Pulsatile GH Secretion Induced By The Oral Growth Hormone Secretagogue LUM-201 Is Related To Growth And IGF-1 Responses In Moderate Pediatric Growth Hormone Deficiency (PGHD)

Roslan Amirul , Román Rossana , Avila Alejandra , Said Daniela , Baier Ingrid , L. Brincks Erik , Bruchey Aleksandra , C. McKew John , Duke Pitukcheewanont Pisit , L. Johnson Michael , Garner Terence , O. Thorner Michael , E. Clayton Peter , Stevens Adam , Cassorla Fernando

Background: Oral LUM-201 normalizes growth rates in moderate PGHD over 12 months (Phase 2 Trials: OraGrowtH210/OraGrowtH212) [FC-746 ESPE 2024]. In OraGrowtH212, GH profiles, based on 10-minute sampling over 12 hours (8am-8pm), showed significant increases in inter-pulse, pulsatile and total GH secretion in response to 1.6 and 3.2 mg/kg/day doses of LUM-201 over 6 months, with no difference between the doses [FC14.3, ESPE 2023].O...

hrp0098p1-32 | Diabetes and Insulin 2 | ESPE2024

Factors Associated with Pump Set Occlusion

Tuğçe Tunca Küçükali Elif , Kuşkanadı Büşra , Özdemir Uslu Zülal , Akın Agâh , Muratoğlu Şahin Nursel , Çetinkaya Semra

Introduction: The most common non-metabolic complication of insulin pump therapy is set occlusion, and the literature on factors associated with occlusion is limited. This study aims to investigate the factors influencing set occlusion.Methods: A total of 52 patients with type 1 diabetes using insulin pumps were included in the study. A 36-item questionnaire related to set occlusion was administered to the healthcare per...

hrp0098p1-243 | Fetal and Multisystem Endocrinology | ESPE2024

Experience with Cinacalcet in Neonatal Severe Hyperparathyroidism Due to CASR Mutation

Karagöz Kıymet , Karacan Küçükali Gülin , Sumru Kavurt Ayşe , Kulalı Ferit , Asli Bala Keziban , Kolkıran Abdülkerim , Keskin Melikşah , Kurnaz Erdal , Savaş Erdeve Şenay

Introduction: The calcium-sensing receptor (CaSR) detects calcium levels and regulates parathyroid hormone (PTH) secretion to maintain serum calcium within normal ranges. Inactivating mutations in the CASR gene cause hyperparathyroidism and hypercalcemia. Heterozygous mutations lead to familial hypocalciuric hypercalcemia (FHH), homozygous mutations cause neonatal severe hyperparathyroidism (NSHPT). Cinacalcet is an allosteric modulator of CaSR. This ...

hrp0098p1-272 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Nonfunctioning pituitary adenomas in childhood: A single-center experience

Hürmüzlü Közler Selen , Koçyiğit Esra , Gürpınar Gözde , Böke Koçer Gizem , Tuğçe Aygün Sibel , Jones Jeremy , Anık İhsan , Çizmecioğlu Jones Filiz

Introduction: The clinical spectrum of nonfunctioning pituitary adenomas (NFPA), which are rare in childhood, varies from asymptomatic to hypopituitarism and/or severe compression-associated symptoms. We present the diagnosis, follow-up, and treatment of pediatric NFPA cases evaluated in a pituitary referral center.Methods: Data of patients aged <18 years and diagnosed with NFPA between 2002 and 2024 were reviewed ret...

hrp0098p2-23 | Adrenals and HPA Axis | ESPE2024

Adrenal Lesions Evaluated in A Pediatric Endocrinology Department

Hürmüzlü Közler Selen , Böke Koçer Gizem , Gürpınar Gözde , Koçyiğit Esra , Tuğçe Aygün Sibel , Jones Jeremy , Çizmecioğlu Jones Filiz

Introduction and Aim: Adrenal lesions (AL) in childhood present with a variety of clinical features, and their evaluation can be challenging. Diagnosis and follow-up should be evaluated on a case-by-case basis. Adrenal hemorrhage (AH) can be seen in infants due to sepsis and prematurity. Adrenal incidentalomas (AI) are detected in imaging performed without suspicion of adrenal disease. We aimed to present the characteristics of the cases evaluated for AL.<...

hrp0098p2-36 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

KIF22 Mutation with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type 2 (SEMDJL2)

Liv Çanga Betül , Özkaya Dönmez Beyhan , Kurnaz Erdal , Sezer Abdullah , Gökçe Çınar Hasibe , Keskin Melikşah , Aslı Bala Keziban , Savaş Erdeve Şenay

Introduction: Spondyloepimetaphyseal dysplasia (SEMD) (OMIM 603546) is a skeletal dysplasia that may present with a number of characteristics, including short stature, joint dislocations with laxity, limb malalignment and spinal deformity. It is believed that mutations in the KIF22 (kinesinfamilymember22) gene (16p11.2) may be the cause of this condition. In this case, we will present a case of leptodactylic type SEMD due to a KIF22 mutation.<p class="abst...

hrp0098p2-129 | Fat, Metabolism and Obesity | ESPE2024

Evaluation of genetic etiology and genotype-phenotype association in endogenous obesity

Koçyiğit Esra , Hürmüzlü Közler Selen , Gürpınar Gözde , Böke Koçer Gizem , Tuğçe Aygün Sibel , Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Many genes have now been identified in which rare, high penetrant variants cause obesity, accounting for ~10% of children with severe obesity.Aim: To describe clinical characteristics, genetics, and associated comorbidities in pediatirc endogenous obesity due to rare genetic obesity syndromes.Methods: After excluding patients with obesity due to endocrine disturbances...

hrp0098p2-178 | Growth and Syndromes | ESPE2024

Co-Occurrence of DNET and Lymphoma in a patient with Noonan syndrome and mutation in PTPN11 gene

Rosa Pellicciari Caroline , Aparecida Siviero Miachon Adriana , Maria Spinola e Castro Angela , Maria Cappellano Andrea , Saba da Silva Nasjla , Augusto Vercillo Luisi Flavio , A. L. Jorge Alexander , C. Malaquias Alexsandra

Background: Noonan Syndrome (NS; OMIM 163950) is a common autosomal dominant disorder distinguished by facial dysmorphism, short stature, heart defects, chest deformities, and learning disabilities or mental retardation. NS stems from heterozygous germline causative variants in genes regulating the RAS/MAPK signaling pathway, including PTPN11, SOS1, RAF1, RIT1, KRAS, NRAS, BRAF, LZTR1, and SOS2. The condition exhibits considerable clinical variability and shar...

hrp0098p2-224 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Successful Experience with Tolvaptan in Syndrome of Inappropriate Secretion of Antidiuretic Hormone

Akın Agâh , Döğer Esra , Tuğçe Tunca Küçükali Elif , Mutlu Karakaş Nazmi , Vural Özge , Kılınç Uğurlu Aylin , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: Euvolemic hyponatremia is a typical feature of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Excessive secretion of antidiuretic hormone (ADH) leads to activation of the type 2 vasopressin receptor (AVPR2) in the kidneys, which plays a role in concentrating urine. Etiologies of SIADH include cranial surgery, intracranial malignancy, meningitis-encephalitis, cerebral hemorrhage, other cerebral pathologies, pulmonary path...