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...

hrp0095p1-227 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Primary Hyperparathyroidism caused by a Mutation of the Vitamin D Receptor Gene

de Beldjenna Liliana Mejia de Beldjenna L

Objective: To present a patient with hypercalcemia caused by a parathyroid adenoma and a deletion of the VDR gene.Case clinic: The case is that of a 13-year-old male who presented with hypercalcemia, muscle weakness, nephrocalcinosis, two pathological fractures and a family history of nephrocalcinosis. Physical examination was unremarkable, except the presence of a fracture of the left femur. Laboratory findings: Total s...

hrp0095p2-197 | Growth and Syndromes | ESPE2022

Characterization of A Patient with "Rasopathies" Type of Noonan Syndrome Due to Mutation of PTPN11 in A Pediatric Endocrine Consultation

Mejia de Beldjenna Liliana , Mejia Valentina

Introduction: Noonan syndrome (NS) is an autosomal dominant disorder that involving multiple organ systems, with an incidence of 1:1,000 to 1:2,500.The clinical features as short stature, dysmorphic facial features, congenital heart defects most commonly pulmonary valve stenosis, typical chest, cryptorchidism. The PTPN11 gene is located on the long arm of chromosome 12q24.1 and encodes for the non-receptor protein tyrosine phosphatase SHP-2 (SHP2), generating ...

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...

hrp0094p2-74 | Bone, growth plate and mineral metabolism | ESPE2021

Primary hyperparathyroidism due to a deletion of the CDC73 gene.

de Beldjenna Liliana Mejia , Garcia Castano Alejandro , Gomez Conde Sara , Castano Luis ,

Introduction: Primary hyperparathyroidism (PHPT), often caused by a single adenoma (80%–85%) or hyperplasia or adenomas involving multiple glands, is the major cause of hypercalcemia. PHPT is common and occurs in individuals of all ages, but its prevalence is lower in young adults. Parathyroid tumors and PHPT can be caused by germline (hereditary PHPT) or somatic mutations of tumor suppressor genes (e.g., multiple endocrine neoplasia type 1 and CDC73) and...