hrp0094p2-97 | Bone, growth plate and mineral metabolism | ESPE2021

Hungry Bone Syndrome associated to Rickets

Jimenez Catalina , Seiltgens Cristian ,

Introduction: Hereditary causes of rickets often take longer to be diagnosed because they are not very frequent. 1α-hydroxylase alteration is the most frequent vitamin D-dependent rickets. A delay in the treatment associated to a late diagnosis generates an abrupt parathormone deficiency. When initiating treatment, these patients have a risk of hungry bone syndrome.Case: 2-year-8-month-old male patient, with a history of psychomotor...

hrp0094p2-81 | Bone, growth plate and mineral metabolism | ESPE2021

Early-onset osteoporosis due to LRP5

Rios Beatriz , Acuna Pilar , Ochoa Fernanda , Cristian Seiltgens ,

Introduction: Primary osteoporosis are frequently linked to syndromic conditions such as osteogenesis imperfecta which also involves extra esqueletic tissues. With the advancement of medicine, this group has been reduced, due the ability to specifying the causal pathogenic variants. Among these, the LRP5 (Low-density lipoprotein receptor-related protein 5) gene mutations are the most frequent cause. LPR5 is a fundamental coreceptor in the wnt/betacatenin signa...

hrp0086p1-p43 | Adrenal P1 | ESPE2016

Severe Hypertension in a Girl: Cushing Syndrome or Apparent Mineralocorticoid Excess Syndrome? Utility of Molecular Study

Godoy Claudia , Seiltgens Cristian , Fardella Carlos , Lacourt Patricia , Pinochet Constanza , Carvajal Cristian

Background: Apparent mineralocorticoids excess syndrome (AME) is an unusual cause of hypertension, caused by genetic mutation of type 2 11β-hidroxysteroid desydrogenase (11BHSD2) enzime, which metabolizes cortisol(F) to cortisone(E). Patients with AME born from consanguineous parents, are small for gestagional age (SGA) and could have nephrocalcinosis, hypokalemia and high plasma cortisol/cortisone relation (F/E).Objective: To tell the clinical and ...

hrp0086p1-p691 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Neonatal Diabetes and Congenital Hypothyroidism, a Rare Condition: Report of 2 Cases with Different Genetic Causes

Mendoza Carolina , Garfias Carolina , Seiltgens Cristian , Silva Ricardo , Hodgson Isabel , Ugarte Francisca , Flanagan Sarah , Ellard Sian , Garcia Hernan

Background: Neonatal diabetes (ND) is a rare monogenic form of diabetes presenting within the first six months of life. The most frequent causes include mutations in KCNJ11, ABCC8 and insulin genes, but up to 40% of patients remain without a molecular genetic diagnosis.Case presentation: Case 1: a female newborn of non-consanguineous parents, born at 35 weeks, SGA. She presented with hyperglycemia at second day of life...

hrp0086p1-p699 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Role of PTPN22 C1858T Gene Polymorphism in Pediatric Polyautoimmunity

Seiltgens Cristian , Cristi Francisca , Iruretagoyena Mirentxu , Perez-Mateluna Guillermo , Talesnik Eduardo , Hogdson Isabel , Martinez-Aguayo Alejandro , Borzutzky Arturo

Background: Children with more than one AID (pediatric polyautoimmunity) may have a stronger genetic component than children with a single AID. PTPN22 C1858T SNP has been associated with multiple different AIDs in adults and children.Objective and hypotheses: Evaluate the association of PTPN22 C1858T gene polymorphism with pediatric polyautoimmunity.Method: A cross-sectional study was performed in subjects with an AID of p...

hrp0089p1-p039 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

3-epi-25 Serum 25-hydroxyvitamin D3 Concentrations in Chilean Children between 5 and 8 Years

Arancibia Monica , Seiltgens Cristian , Poggi Helena , Allende Fidel , Solari Sandra , Peredo Soledad , Trincado Claudia , Garcia Hernan , Moore Rosario , Dapremont Ivonne , Andrade Daniela , Sifaqui Sofia , Ossa Jt , Campino Carmen , Carvajal Cristian , Fardella Carlos , Baudrand Rene , Sanchez Ximena , Martinez-Aguayo Alejandro

Background: The C3 epimer of 25-hydroxi-vitamin D3 (Epi25OHD3) is present in the pediatric and adult population and varies according to age. If it measurement is clinically relevant and should be considered to classify Vitamin D status is still unknown.Objective: To measure 25OHD3, 25-hydroxy-Vitamin D2 (25OHD2) and Epi25OHD3 and to compare them with PTH and calcemia.Method: Subjects: Children between 5 and 8 years of age born very...

hrp0086p1-p698 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Clusters of Autoinmune Diseases in Children

Seiltgens Cristian , Iruretagoyena Mirentxu , Melendez Patricia , Ponce Maria Jesus , Talesnik Eduardo , Mendez Cecilia , Godoy Claudia , Martinez-Aguayo Alejandro , Hogdson Isabel , Harris Paul , Gana Juan Carlos , Riera Francisca , Garcia Hernan , Cattani Andreina , Borzutzky Arturo

Background: Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families.Objective and hypotheses: To identify clusters of AIDs in children and their first-degree relatives.Method: A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years) recruited at Pediatric ...