hrp0098rfc8.4 | Adrenals and HPA Axis 2 | ESPE2024

Rare Genetic Etiology of Primary Adrenal Insufficiency in Children; Clinical and Genetic Characterization of a Large Sudanese Cohort

Musa Salwa , Abdullah Mohamed , Hassan Samar , Fauzi Luqman , Qamar Younus , Hall Charlotte , Maitra Saptarshi , Maharaj Avinaash , Mariela Marroquin Ramirez Lucia , Read Jordan , F Chan Li , A Metherell Louise , J Smith Chris

Background: Studies of Primary Adrenal Insufficiency (PAI) from Africa are scanty while in Sudan, congenital adrenal hyperplasia (CAH) followed by Triple A syndrome are the commonest reported genetic etiologies in children. Diagnosis is challenging, especially in resource limited settings where presentation can mimic common childhood diseases and facilities for biochemical and genetic testing are restricted.Patients & Methods...

hrp0092p1-378 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Vascular Anomalies and Aortic Dilatation in Turner Syndrome Study in a Large Cohort of Young-Adult Patients

Scarano Emanuela , Varini Susanna , Tamburrino Federica , Perri Annamaria , Costa Margherita , Prandstraller Daniela , Lovato Luigi , Balducci Anna , Gibertoni Dino , Mazzanti Laura

Background: Patients with Turner Syndrome (TS) are at high risk for congenital heart disease (CHD), aortic dilatation and dissection with increased mortality and morbidity. Thoracic gadolinium-enhanced MRI angiography allows clear imaging of all great vessels and revealed a spectrum of silent vascular anomalies (VA), both venous and arterial, undetected at Echocardiography.The aim of this study is to retrospectively evaluate the prevalen...

hrp0089p2-p017 | Adrenals and HPA Axis P2 | ESPE2018

Childhood Growth Advancement in Girls with Premature Adrenarche Heralds Anabolic Effects by Adulthood

Liimatta Jani , Utriainen Pauliina , Laitinen Tomi , Voutilainen Raimo , Jaaskelainen Jarmo

Background and aim: Children with premature adrenarche (PA) have often tall stature, advanced bone maturation, and a tendency to be overweight. It has been speculated that PA may lead to unfavourable outcome, including obesity-related metabolic disturbances, but the data on long-term outcome of PA are insufficient. The aim of this work was to describe adult body composition in young females with a history of PA.Subjects and design: This prospective case-...

hrp0084wg2.2 | Diabetes Technology and Therapeutics Thursday, 1 October | ESPE2015

The Pros and Cons of Using Sulfonylurea before Genetic Testing in Neonatal Diabetes Mellitus

Polak Michel

Background: Very early onset diabetes mellitus (neonatal diabetes mellitus (NDM)) seems to be unrelated to autoimmunity in most instances. A number of conditions are associated with NDM, some of which have been elucidated at the molecular level. Among these, the recently elucidated mutations in the KCNJ11 and ABCC8 genes, encoding the Kir6.2 and SUR1 subunit of the pancreatic KATP channel involved in regulation of insulin secretion, account for one...

hrp0098p3-330 | Late Breaking | ESPE2024

Phosphocalcic profile and orthopedic manifestations in turner syndrome

Rachedi Hanae , Yagoubi Latifa , Zahra Najioui Fatima , Bouichrat Nisrine , Rouf Siham , Latrech Hanane

Introduction: Turner syndrome is one of the most common chromosomal anomalies occurring in approximately 1 in 1500 live-births females (1), resulting from the partial or complete absence of X-chromosome. It is associated to several skeletal abnormalities including short stature, delayed skeletal maturation, angular deformities of the limbs, spinal deformity, and early-onset osteoporosis. This study aims to evaluate the prevalence of these skel...

hrp0095wg4.1 | ESPE Working Group on Diabetes Technology (DT) Symposium | ESPE2022

Use of Automated Insulin Delivery systems (AIDs) in preschool children

de Beaufort Carine

Management of type 1 diabetes in preschool children is a huge challenge for their caregivers. Age-specific factors (e.g. unpredictable food intake and physical activity, small insulin doses, high insulin sensitivity, frequent intercurrent infections, high variability in insulin requirements) increase the complexity of daily diabetes management. Furthermore, the preschool child depends completely on his/her caregiver. To meet recommended treatment targets while avoiding hypogly...

hrp0082p2-d1-518 | Pituitary | ESPE2014

Goliath, a Variant of DAVID Syndrome?

Hasselmann Caroline , Samuels Mark E , Van Vliet Guy

Background: DAVID syndrome (deficit in anterior pituitary function and variable immune deficiency) (J Clin Endocrinol Metab 97 E121, 2012) can be caused by NFKB2 mutations (Am J Hum Genet 93 13, 2013). All patients have an orthotopic posterior pituitary (PP) and most only ACTH deficiency.Objective and Hypothesis: To describe a girl with common variable immunodeficiency (CVID), ectopic PP (EPP) ...

hrp0082p2-d1-589 | Thyroid | ESPE2014

No Difference in Cognitive Development of Young Adults and Adolescents Affected by Congenital Hypothyroidism Compared to Their Sibling Controls Despite High Dose L-Thyroxin Treatment

Aleksander Paulina , Blankenstein Oliver , Gruters Annette , Krude Heiko

Background: An early diagnosis and treatment based on neonatal screening offers a normal cognitive development in patients affected with congenital hypothyroidism (CH). However, several studies within cohorts of young adults have shown a still existing difference compared to control groups of up to eight IQ points. Moreover it has been claimed recently that a high L-T4 dose with subsequent episodes of overtreatment results in less favourable IQ outcom...

hrp0094p2-491 | Thyroid | ESPE2021

Pediatric Graves’ disease in southern Tunisia

Kmiha Sana , Zghal Mohammed Ali , Chabchoub Imen , Ameur Salma Ben , Aloulou Hajer , Kammoun Thouraya

Background: Hyperthyroidism is uncommon in children. Graves’ disease is the most common cause in pediatric population. The diagnosis is based on the presence of anti-TSH receptor antibodies. Pediatric Graves’ disease has some peculiarities mainly in term of treatment and evolution, since its prognostic is different than adults.Aim: The aim of this study is to describe the epidemiological, clinical and biological features of pediatric Graves...

hrp0098p3-183 | Multisystem Endocrine Disorders | ESPE2024

An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review

Zou Chao-Chun , Mao Shao-Jia , Zhao Jia , Shen Zheng

Background: Fucosidosis is one of the rare autosomal recessive lysosomal storage diseases (LSDs) attributed to FUCA1 variants causing the deficiency of α-L-fucosidase in vivo. Α-L-fucosidase deficiency will cause excessive accumulation of fucosylated glycoproteins and glycolipids, which eventually leads to dysfunction in all tissue systems and presents with multiple symptoms. Fucosidosis is a rare disease which is approximately 120 cases h...