hrp0082p2-d3-612 | Turner Syndrome | ESPE2014

Anti-Mullerian Hormone: a Marker of Premature Ovarian Insufficiency in Girls with Turner Syndrome

Mendes Catarina , Pinho Liliana , Borges Teresa , Oliveira Maria Joao , Cardoso Helena

Background: Turner syndrome (TS) patients typically exhibit short stature and gonadal dysgenesis with pubertal delay and infertility. Up to 30% of these girls will have spontaneous pubertal development, however only 2% achieve a spontaneous pregnancy. Biochemical markers reflecting the ovarian reserve in girls and adolescents with TS are therefore needed.Objective and hypotheses: Evaluation of the ovarian reserve in girls and adolescents with TS using se...

hrp0082p3-d2-743 | Diabetes (3) | ESPE2014

Seip Berardinelli Syndrome Case Report

Pantoja Doly , Mejia Liliana

Background: Congenital generalized lipodystrophy (LCG) or Seip Berardinelli Syndrome is an autosomal resessive rare disease with a prevalence of one in 10 million live births and characterized an absence of adipose tissue and alterations in carbohydrates metabolism and diabetes mellitus, hypertrigliyceridemia, hypertrophic cardiomyopathy, hepatomegaly caused by fatty infiltration which may lead to cirrosis and polycystic ovary syndrome. The challenge is to prevent these compli...

hrp0094p2-93 | Bone, growth plate and mineral metabolism | ESPE2021

Characterization of Patients with Achondroplasia in a pediatric clinic of Cali, Colombia.

de Beldjnna Liliana Mejia ,

Introduction: Achondroplasia is the most common of the skeletal dysplasias and short stature with severe anatomic disproportion. Bone endochondrial growth is affected. The entity was described by Depaul in 1851 and the name which comes from the Greek word chondros (cartilage) and plasis (formation) was given by Parrot. It is an autosomal dominant monogenic disease with complete penetrance. Incidence is 1/25000 to 1/40000 of live births. It is caused by a mutat...

hrp0092p3-52 | Diabetes and Insulin | ESPE2019

Off Label use of CGM in a Pediatric Patient with Type 1 Diabetes Mellitus Under the Age of 2

Burdea Liliana , Robinson Sylvia , Mantis Stelios

Introduction: Continuous Glucose Monitoring (CGM) is an asset for patients with type 1 DM. The Dexcom G6 is FDA approved for use in patients 24 months and older. This CGM does not require any calibrations or point of care interventions and lasts up to 10 days when inserted into the subcutaneous tissue. We present a case of a 17 month-old patient started on CGM (Dexcom G6), with subsequent improvement in glucose variability and continued excellent glycemic cont...

hrp0092p3-251 | Thyroid | ESPE2019

A Case of Graves Disease with Negative Thyrotropin Stimulating Antibodies in a Pediatric Patient with Type 1 Diabetes

Burdea Liliana , Robinson Sylvia , Minutti Carla

Background: Graves disease (GD) is an autoimmune condition caused by direct stimulation of the thyroid epithelial cells by thyrotropin (TSH) receptor antibodies (TRAb). The action of TRAb can be stimulating, blocking or neutral. Antibodies with agonist action are also called thyroid stimulating immunoglobulins (TSI). The diagnosis of GD is typically confirmed with TSI titer which is positive in >90% of patients. In patients that have negative TSI, high...

hrp0084p2-507 | Pituitary | ESPE2015

Fanconi Anemia Endocrine Abnormalities – Case Report

Abreu Liliana , Martins Sofia , Marques Olinda

Background: Fanconi anemia (FA) is a rare, genetically and phenotypically heterogeneous, autosomal or x-linked recessive chromosome instability disorder characterized by multiple congenital anomalies, bone marrow failure, and increased susceptibility to specific malignancies. Other findings, including short stature, skin pigmentation, and endocrine abnormalities have been recognized, most notably GH deficiency (GHD), hypothyroidism, and hypogonadism.Case...

hrp0092p3-199 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Prolactinomas in a Pediatric Population

de Beldjenna Liliana Mejia , Vanegas Sara , Audrey Matallana , Siuffi Mirey

Introduction: Prolactinoma is the most frequent pituitary tumor (40 %) in children and adolescents is more common in females, sporadic and benign. It is classified into microprolactinoma (< 1.0 cm) and macroprolactinoma (>1.0 cm). In girls it presents clinically as amenorrhea and galactorrhea and occasionally as increased intracranial pressure. Management consist of medications and surgery.Objectives: To char...

hrp0092p1-364 | GH and IGFs (2) | ESPE2019

GH Values in Serum and Blood Spots on Filter Paper Samples in Neonates Until 30 Days of Life by Electrochemiluminescence (ECLIA).

Miras Mirta , Silvano Liliana , Campi Veronica , Ochetti Mariana , Sobrero Gabriela , Castro Laura , Martin Silvia , Testa Graciela , Franchioni Liliana

Growth Hormone deficiency (GHD) in newborn is an infrequent condition, which can cause threat to life due mainly to hypoglycemia that begins in the first week of life. A GH basal level (whether random or associated with spontaneous hypoglycemia) that distinguishes infants with GHD from those with GH sufficiency in the neonatal period is not conclusive. Few data have been reported about the GH measurements in serum and dried blood spots on filter paper samples in healthy neonat...

hrp0082p2-d1-459 | Growth | ESPE2014

Comparison Between GH assay: serum GH Cut-off Levels by ECLIA Performed in Pharmacological Estimulation Tests in Children With Short Stature

Aguirre Cecilia , Sobrero Gabriela , Schvab Giselle , Silvano Liliana , Alvarez Julia , Ochetti Mariana , Lescurat Maria , Paez Alejandra , Munoz Liliana , Martin Silvia , Miras Mirta

Background: The diagnosis of GH deficiency in children is based on clinical, auxological, radiographic and biochemical criteria which include response to Pharmacological Estimulation Tests (PhT). It is well known that GH concentrations vary according to the assay method used. Currently in our population, the proposed cut-off value of serum GH PhT is 4.7 ng/ml measured by ICMA using the IRP 98/574.Objective and hypotheses: The aims of this study were to d...

hrp0092p3-186 | Multisystem Endocrine Disorders | ESPE2019

Variable Expressivity in Three Generation from a Colombian Family with Multiple Endocrine Neoplasia with Mutation c.482G>A (p.Gly161Asp) in the Gene MEN1 not Described in Colombia

Mejia de Beldjenna Liliana , Diaz Lorena , Vanegas Sara , Perafan Lina , Pachajoa Harry

Introduction: Multiple endocrine neoplasia type 1 is an autosomal illness dominant caused by mutations in the gene menina (MEN1) with high penetrance, characterized by neoplasia parathyroid glands, anterior pituitary, endocrine pancreas and duodenum. Although it has been associated with other types of cancer like breast cancer.Methods and materials: Clinical analysis, mutational and sequencing report Sanger from gene MEN...