hrp0094p2-474 | Thyroid | ESPE2021

Recurrent fractures in a child with Graves' disease

Kilci Fatih , Jones Jeremy , Çizmecioğlu Jones Filiz Mine

Introduction: Graves' disease is the most common paediatric cause of hyperthyroidism. Although hyperthyroidism has been reported to cause a decrease in bone mineral density (BMD), its association with recurrent bone fractures is extremely rare.Case: A 10-year-old male patient, who had a pre-existing 7-year diagnosis of autism spectrum disorder, presented to emergency with right leg pain that started after collision with an armchair. On initial exami...

hrp0094p2-42 | Adrenals and HPA Axis | ESPE2021

A case of adrenal insufficiency during the course of multisystem inflammatory syndrome in children (MIS-C)

Kilci Fatih , Kozler Selen Hurmuzlu , Jones Jeremy , Doğan Kenan , Aydın Duygu , Mine Cizmecioğlu Filiz ,

Introduction: Multisystem inflammatory syndrome in children (MIS-C) is associated with Covid-19. MIS-C was first reported in April 2020 with similar symptoms to Kawasaki disease and has several treatment options, one of which is glucocorticoids.Autopsy studies in Covid-19 patients have shown degenerative adrenal changes.It has been reported that rarely Covid-19 may affect adrenal function and cause both primary and secondary adrenal insufficiency.Here we prese...

hrp0094p2-165 | Diabetes and insulin | ESPE2021

Co-existence of new onset diabetic ketoacidosis with severe hypertriglyceridemia in a 9 year old girl.

Kilci Fatih , Kozler Selen Hurmuzlu , Jones Jeremy , Cizmecioğlu Jones Filiz Mine ,

Introduction: Insulin regulates the activity of lipoprotein lipase, the enzyme responsible for triglyceride metabolism. Although mild hypertriglyceridemia is seen in diabetic patients, severe hypertriglyceridemia (>1000 mg/dl) is extremely rare in the pediatric population. We present a case of co-existence of new onset diabetic ketoacidosis (DKA) with severe hypertriglyceridemia, together with therapeutic outcome.Case: A 9-year-old, ...

hrp0097p1-302 | GH and IGFs | ESPE2023

Influencing Factors on Selection of Initial Treatment Dose in Children Diagnosed with Isolated Growth Hormone Deficiency

Mert Erbaş İbrahim , Uyar Nilüfer , Nalbantoğlu Özlem , Özkan Behzat

Background: Although it has been recommended to start treatment in the range of 22-35 µg/kg/day in growth hormone (GH) deficiency, individualized dose selection is more preferred for those patients instead of a fixed dose. However, there is no consensus as to which dose should be started for which patient. In this study, we aimed to reveal the factors that affect the clinicians' preferences in the selection of the starting dose of GH treatment.<...

hrp0097p1-531 | Multisystem Endocrine Disorders | ESPE2023

Clinical analysis of 193 patients with McCune-Albright syndrome in China based on literature review

Feng Xin , Yuan ke , Lu Huifei , Tu Haifeng , Zhu Jianfang , Fang yanlan , Yan Qingfeng , Wang Chunlin

Objective Summarizing and analysing the clinical characteristics of 193 patients with McCune-Albright syndrome (MAS) in China to improve the understanding of MAS for early detection, diagnosis and management. Methods All MAS-themed case-report or case-series studies published by the Chinese between January 1990 and November 2022 were retrieved from the Wanfang Full Text, CNKI, China Science and Technology Journal, PubMed and Embase databases, and clinical data were collected. ...

hrp0097p1-193 | Thyroid | ESPE2023

Thyroid hormone resistance syndrome due to a new mutation in the TRHA gene

Tuhan Hale , Donbaloğlu Zeynep , Kırbıyık Özgür , Parlak Mesut , Demir Korcan

Introduction: Resistance to thyroid hormones is defined as lack of response of peripheral tissues to triiodothyronine (T3) which is the active form of thyroid hormones. In general (85%) a mutation is detected in the thyroid hormone receptor β (THRB) gene and more rarely, the thyroid hormone receptor α (TRHA) gene.Case: A 4.7-year-old boy, was admitted to the pediatric endocrinology outpatient clinic of Akdeniz...

hrp0086p1-p817 | Syndromes: Mechanisms and Management P1 | ESPE2016

Silver-Russell Syndrome with 11p15 Epimutation: Clinical Analysis of Adrenarche, Central Puberty and Body Mass Index in a Cohort of French Children

Canton Ana , Brioude Frederic , Netchine Irene

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, a typical phenotype and feeding difficulties. It is related to 11p15 ICR1 hypomethylation in up to 50% of the cases. Some patients may exhibit signs of early puberty or premature adrenarche, including premature pubarche and/or an exaggerated adrenarche (high dehidroepyandrosterone sulfate (DHEAS) levels for chronological age). Despite early feeding difficulties, some ch...

hrp0086p2-p974 | Thyroid P2 | ESPE2016

Severe Growth Retardation and Hypothyroidism due to Hashimoto’s Thyroidits

Krstevska-Konstantinova Marina , Stamatova Ana , Gucev Zoran

Background: Hashimoto’s thyroiditis is a common autoimmune disease in pubertal and adolescent girls. In the past years the incidence of this autoimmune disease of the thyroid gland has increased.Objective and hypotheses: We present a 12.5 year old girl who had her first visit at our Pediatric Endocrinology Department at the age of 10 years due to short stature and clinical signs of hypothyroidism. Her height was – 3SD SDS and her BMI was 12.7. ...

hrp0082p3-d2-853 | Growth (3) | ESPE2014

Switching From the Original to the Biosimilar Recombinant Human GH – Omnitrope®: an Experience of a Single Paediatric Centre in Spain

Gila Ana Gomez , Garcia Margarida Palla

Introduction: In 2009/2010 Hospital Virgen del Rocío, Seville, Spain changed the treatment of patients with GH deficiency (GHD) from various original recombinant human GH (rhGH) to a biosimilar rhGh (Omnitrope®, Sandoz).Objective: To evaluate the consequences on growth parameters of switching treatment, from original rhGHs to Omnitrope® in children with GHD, in a window period of 36 months.Metho...

hrp0084p3-1091 | Perinatal | ESPE2015

Transient Neonatal Hypoparathyroidism Secondary to an Unknown Maternal Parathyroid Adenoma

Teresa Perez Maria , Regina Labra , Ana Llorente

Background: Transient neonatal hypoparathyroidism (hPT) by inhibition of fetal parathyroid secondary to undiagnosed asymptomatic hyperparathyroidism (HPT) in the mother often debuts as late neonatal seizures.Objective and hypotheses: To emphasise the indication of maternal metabolic study (Cacium-Ca-, Phosphorus-P- and PTH) in addressing late neonatal hypocalcemia, especially in the case of late neonatal hypocalcemic seizures.Metho...