hrp0095p1-14 | Adrenals and HPA Axis | ESPE2022

Demographic, Clinical, Hormonal And Genetic Characteristics Of Children And Adolescents With Congenital Adrenal Hyperplasia Due To 11-Beta Hydroxylase Deficiency

Nur Peltek Kendirci Havva , Bayramoğlu Elvan , Aycan Zehra , Hatipoğlu Nihal , Ahmet Uçaktürk Seyit , Özalkak Şervan , Özsu Elif , Demet Akbaş Emine , Aydın Murat , Dündar İsmail , Ercan Oya , Demirbilek Hüseyin , Çetinkaya Semra

Introduction: 11-beta hydroxylase deficiency(11β-OHaseD) is the second frequent congenital adrenal hyperplasia(CAH) form. This study aimed to determine demographic and genetic characteristics and final height, to evaluate the long term clinical follow-up of children&/adolescents with 11β-OHaseD.Material and Methods: The study is designed as a multicenter, national, retrospective. 60 cases from 11 Pediatric ...

hrp0098p3-255 | Thyroid | ESPE2024

Encephalopathy in Hashimoto's Thyroiditis: A Case Report

Arbatauskaite Laura , Galinyte Kristina , Navardauskaite Ruta

Introduction: Hashimoto's autoimmune thyroiditis is the primary cause of acquired hypothyroidism, with encephalopathy being a rare complication, particularly in children. Early and accurate diagnosis is crucial, as appropriate treatment is usually successful, while untreated cases can result in permanent impairment.Case presentation: A 17-year-old girl complained of numbness on the right side of her body and tongue,...

hrp0094fc1.6 | Adrenal | ESPE2021

Tumor DNA methylation profiling as a prognostic marker for pediatric patients with adrenocortical tumors

Bueno Ana Carolina , da Silva Rui M P , Stecchini Monica F. , Gutierrez Junier M , Cardinalli Izilda A , Scrideli Carlos A , Junqueira Thais , Molina Carlos A F , Ramalho Fernando S , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra N Z , Brandalise Silvia R , Yunes Jose A , de Castro Margaret , Vencio Ricardo Z N , Antonini Sonir R ,

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients’ clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

hrp0092p1-321 | Diabetes and Insulin (2) | ESPE2019

A Case of Late-Onset Monogenic Diabetes Due to a Homozygous Variant in the GCK Gene

Filibeli Berna Eroglu , Çatli Gönül , Ayranci Ilkay , Manyas Hayrullah , Kirbiyik Özgür , Dündar Bumin

Introduction: Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause MODY 2. Conversely, homozygous loss-of-function mutations in the same gene give rise to permanent neonatal diabetes mellitus (DM). Previously, two patients diagnosed with DM in adolescence and had homozygous GCK mutations were reported. Variants in these patients have been shown to exhibit inactivated kinetics that are indistinguishable from neonatal ons...

hrp0092p3-215 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

MKRN3 Gene Mutation in a Case of Familial Central Precocious Puberty

Eroğlu Filibeli Berna , Ayranci İlkay , Manyas Hayrullah , Kirbiyik Özgür , Dündar Bumin , Çatli Gönül

Introduction: Gain-of-function mutations in KISS1 and KISS1R genes and loss-of-function mutations in the gene encoding the makorin RING-finger protein 3 (MKRN3) expressed only in the paternal allele are the most common genetic reasons of familial central precocious puberty (CPP).Aim: We report a case of familial CPP and a pathogen variant in the MKRN3 gene.<stron...

hrp0097p1-31 | Diabetes and Insulin | ESPE2023

Metabolic trajectories during treatment of diabetic ketoacidosis described by breath analysis

Awchi Mo , Dev Singh Kapil , Bachmann-Brenner Sara , Burckhardt Marie-Anne , Hess Melanie , Zumsteg Urs , Zeng Jiafa , N. Datta Alexandre , Frey Urs , Szinnai Gabor , Sinues Pablo

Objective: This feasibility study aimed to investigate the anabolic effect of insulin on metabolites captured in exhaled breath during acute diabetic ketoacidosis (DKA) for a better pathophysiological understanding.Research Design and Methods: Children and adolescents with type 1 diabetes (T1D) with DKA (n=5) and without DKA (n=7) and children with epilepsy without ketogenic diet (n=18) were re...

hrp0086p2-p770 | Pituitary and Neuroendocrinology P2 | ESPE2016

Postoperative Water and Electrolyte Disorders and Affecting Factors in Children with Intracranial Tumors

Akbas Emıne Demet , Doger Esra , Ugurlu Aylın Kılınc , Bıdecı Aysun , Camurdan Orhun , Cınaz Peyamı

Introduction: Water and electrolyte disorders due to anterior and posterior pituitary deficiencies are common in children which are referred with intracranial tumors, especially arising from suprasellar and pituitary regions. But the prevelance and affecting factors of these disorders are not clear. We aimed that to determine the prevelance of postoperative water and electrolyte disorders and affecting factors in pediatric patients with intracranial tumors.<p class="abstex...

hrp0095p1-554 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Oligogenic Inheritance May Explain The Phenotypic Variability and Incomplete Penetrance of Deleterious GL1I2 Variants in Congenital Hypopituitarism

Javier Rodríguez-Contreras Francisco , Ros-Pérez Purificación , Amalia García de Santiago Fe , Regueras-Santos Laura , Ruiz-Cano Rafael , Vallespín Elena , Del Pozo Ángela , Solís Mario , Elise Heath Karen , González-Casado Isabel , Campos-Barros Ángel

Background: GL1I2 encodes a zinc-finger transcription factor expressed in the developing hypothalamus and in Rathke's pouch, the embryonic precursor of the pituitary gland. Pathogenic GL1I2 variants have been implicated in the etiology of the broad clinical spectrum of congenital hypopituitarism (CHY): holoprosencephaly, midline facial abnormalities, Culler-Jones syndrome, combined pituitary hormone-deficiency (CPHD) and isolated GH-defi...

hrp0095p1-385 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Rare and Treatable Cause of Prepubertal Gynecomastia: Large Cell Calcifying Sertoli Cell Tumor

Kağızmanlı Akın , Besci Özge , Yüksek Acinikli Kübra , Şeker Gül , Yaşar Elif , Öztürk Yeşim , Demir Korcan , Böber Ece , Abacı Gözde Ayhan

Introduction: Gynecomastia is common in boys at early-mid puberty, while prepubertal gynecomastia is a rare condition. Sertoli cell tumors (SCTs) account for 2% of prepubertal testicular tumors. Most of the SCTs in prepubertal boys, which are generally bilateral and diffuse, are in the content of Peutz-Jeghers Syndrome (PJS) or other familial syndromes (Carney complex). Large cell calcifying Sertoli cell tumor (LCCSCT) is a variant of SCT and is seen in PJS. I...

hrp0095p1-88 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

An Ongoing Phase 2 Study of HM15136, a Novel Long-acting Glucagon Analogue, in Subjects with Congenital Hyperinsulinism (ACHIEVE, Outline Protocol)

Shin Wonjung , Kang Jiyeon , Lee Grace , Maria Arbelaez Ana , Banerjee Indi , Dastamani Antonia , Mohnike Klaus , Okawa Erin , Cho Hyungjin , D De León Diva

Congenital hyperinsulinism (CHI) is an ultra-rare disease characterized by excessive insulin secretion that results in persistent hypoglycemia. If left untreated, CHI-induced severe prolonged hypoglycemia may lead to permanent neurologic damage. Currently used pharmacologic agents fail to prevent hypoglycemia in a subset of patients with CHI. HM15136 is a novel long-acting glucagon analogue that have demonstrated good stability and extended half-life ranging from 77 to 167 hou...