hrp0097p1-138 | Multisystem Endocrine Disorders | ESPE2023

An isolated hyperchlorhidrosis in a a patient with CA12 mutation.

Alkhalaf Abeer , Alfaraidi Haifa

Hyponatremia is a common electrolytes disorder in children. It can result from sodium chloride losses through GI, the kidneys, or in the sweat. Sodium chloride loss in the sweat can be caused by many different etiologies as cystic fibrosis, malnutrition, metabolic diseases, dermatological diseases and endocrine diseases. We are reporting a 6 months old boy, medically free, who had recurrent admissions to the PICU as a case of hyponatremic dehydration, with a sodium level of 11...

hrp0097p1-350 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Onset of puberty and timing of menarche in Saudi schoolgirls: Riyadh Puberty Study II

Al Alwan Ibrahim , Babiker Amir , Alfaraidi Haifa , Al Juraibah Fahad , Al Dubayee Mohamed , Al Malki Samia , Tamimi Waleed

Objective: Puberty has a significant contribution to different psychosocial wellbeing aspects. Hence; it is crucial to understand the normal variations in onset and tempo of puberty in a specific population. In this study, we aimed to provide normative data on timing of onset of puberty and age of menarche in Saudi schoolgirls in RiyadhMethods: This is a cross-sectional field study (2011-2013) including Saudi schoolgirls...

hrp0086p2-p703 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

French National Healthcare Network for Rare Endocrine Diseases (FIRENDO): The First Year of Activity to Monitor Patients with Rare Endocrine Diseases

Givony Maria , Minime Fanny , Lopes Euma Fortes , Varillon Yvonne , Le Verger Delphine , Ghenim Sabine , Provost Marion , Rahabi-Layachi Haifa , Bouvattier Claire , Polak Michel , Brue Thierry , Nunes Marie-Laure , Delemer Brigitte , Netchine Irene , Mouriquand Pierre , Borson-Chazot Francoise , Bony-Trifunovic Helene , Rodien Patrice , Juliane Leger , Bertherat Jerome

Background: Twenty-three national healthcare networks for rare diseases were identified in 2014 as part of the French scheme on rare diseases. The rare endocrine disease national healthcare network FIRENDO (www.firendo.fr) includes six centers of reference with complementary fields of expertise certified between 2005 and 2006, 30 centers of competence covering all French regions, 18 research and 37 diagnostic laboratories, 5 national learned...