hrp0097p1-11 | Adrenals and HPA Axis | ESPE2023

Girls with Premature Adrenarche but not SGA Reach Their Target Height

Bingöl Aydın Dilek , Tin Oğuzhan , Turan Hande , Bayramoğlu Elvan , Ercan Oya , Evliyaoğlu Olcay

Introduction:Premature adrenarche (PA) is the most common cause of premature pubic and axillary hair growth before the age of 8 in girls. At the time of diagnosis, the height and bone age of the cases with premature adrenarche were determined to be higher than their peers. The long-term effects of advanced bone age on the final length of the cases are controversial. In this study, it is aimed to share the long-term follow-up data of the cases diagnosed with pr...

hrp0097p1-189 | Thyroid | ESPE2023

Anemia-based Screening for Resistance to Thyroid Hormone Alpha in Children

Akın Kağızmanlı Gözde , Kırbıyık Özgür , Abacı Ayhan , Böber Ece , Yiş Uluç , Demir Korcan

Background: Resistance to thyroid hormone alpha (RTH-α) is characterized by varying degrees of symptoms and findings related to hypothyroidism. However, diagnosis is difficult since thyroid-stimulating hormone (TSH) levels are normal. Free triiodothyronine (fT3) and free thyroxine (fT4) levels can also be normal, but normo- or macrocytic anemia is generally present in the reported cases. L-thyroxine can alleviate some symptoms; however, there is limited ...

hrp0092rfc1.4 | Diabetes and Insulin Session 1 | ESPE2019

Estimation of Mody Frequency and Prevalent Subtypes in Pediatric Patients by Targeted NGS

Salamanca Luis , Kadaoui Maria Al , Guerrero Julio , Carcavilla Atilano , Itza Nerea , Mora Cristina , Barreda Ana Coral , Dominguez Jesús , Vallespín Elena , Pozo Angela Del , Solis Mario , Aragonés Angel , Hermoso Florinda , Ramirez Joaquín , Teresa Muñoz Maria , Garzón Lucía , Rodriguez Amparo , Escribano Arantxa , Gonzalez Isabel , Campos Angel

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...

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.<...

hrp0095p1-92 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Reference National Standards for Placental Weight in Infants born between the 37th and 43rd weeks of Gestation in Qatar. (A Population-Based Retrospective Data Analysis (n = 80722).

Alyafei Fawzia , Al-qubasi Mai , Soliman Ashraf , Ali Hamdy , Olukade Tawa , Alturk Mohamad , Alaaraj Nada , Hamed Noor , Ahmed Shayma

Introduction: Because of the associations and links between abnormal placental weight and both fetal and maternal disorders, it is important to have the national normal standard for placental weight as a normality reference.Aims: To find out the national placental weight standards for babies born between 37th and 43rd weeks of gestation in all groups of males and females babies born AGA, SGA, and LGA.<p class="abstex...

hrp0095p1-494 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Postnatal growth pattern in (n=51) infants of non-diabetic mothers (INDM) who were born preterm or near term and had significant neonatal hypoglycemia

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Alyafei Fawzia , Ali Hamdy , Itani Maya , Al-Naimi Fatima , Shaat Mona , Al-Yousef Doaa

Prematurity is a risk factor for significant hypoglycemia even in infants born to non-diabetic mothers (INDM) which could lead to postnatal growth abnormalities. This study evaluated the growth pattern from birth until the age of 2 years of 51 INDM who were born preterm or near term and admitted with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4,6,12,18 and 2 years were measured in 51 INDM who admitted with neonatal hypoglycemia (Plasma value les...

hrp0095p2-130 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Postnatal Growth in Infants of Diabetic Mothers (IDM) (n = 79) Who Were Born at or Near Term and Had Severe Neonatal Hypoglycemia Without Other Comorbidities.

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Alyafei Fawzia , Ali Hamdy , Itani Maya , Al-Naimi Fatima , Shaat Mona , Al-Yousef Doaa

Abnormal postnatal patterns of linear growth and weight gain have been reported in infants born to mothers with gestational diabetes (IDM). We evaluated the growth pattern from birth to the age of 2 years of 79 IDMs who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18, and 2 years were measured in 79 IDM who presented with significant neonatal hypoglycemia (Plasma value less than 20-25 mg/dL (1.1-1.4 mmol/L)) t...

hrp0092fc2.4 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

New Imaging Approaches to the Quantification of Musculoskeletal Alterations in X-Linked Hypophosphatemic Rickets (XLH)

Raimann Adalbert , Mehany Sarah N. , Feil Patricia , Weber Michael , Pietschmann Peter , Boni-Mikats Andrea , Klepochova Radka , Krssak Martin , Haeusler Gabriele , Schneider Johannes , Raum Kay , Patsch Janina

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...

hrp0092p1-308 | Diabetes and Insulin (2) | ESPE2019

ABCC8 MODY in an Obese Adolescent Misdiagnosed with Type 2 Diabetes

Filibeli Berna Eroglu , Çatli Gönül , Manyas Hayrullah , Ayranci Ilkay , Kaya Özge Özer , Dündar Bumin

Introduction: An activating mutations in the ABCC8 gene cause both transient and permanent neonatal diabetes mellitus (DM) or MODY 12. In relation to the variant in the ABCC8 gene, patients may also present with either neonatal hyperinsulinism and/or DM later in life. Besides, the same variant can cause different phenotypic features among family members. Response to the sulfonylurea treatment may vary between patients.<...

hrp0098p1-205 | Thyroid 2 | ESPE2024

Treatment Outcomes in Pediatric Differentiated Thyroid Carcinoma: A Single Center Experience

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

Objectives: American Thyroid Association (ATA) and European Thyroid Association (ETA) published guidelines about evaluation, treatment and follow-up. Despite these recommendations, published data on this subject is insufficient. This study aims to investigate the outcome of pediatric DTC and factors predicting the response to therapy in pediatric DTC.Methods: Medical records of 46 children diagnosed with DTC, between 200...