ESPE Abstracts

Introduction: Turner syndrome (TS), sometimes referred as congenital ovarian dysgenesis syndrome, is a genetic disorder that results when one of the X chromosomes (sex chromosomes) is missing (monosomic) or partially absent (mosaicism). It can cause a variety of medical and developmental problems, including short height. It is one of the most common syndromes that is included in the list of diseases treated with rhGH during the last 22 years in Albania. This s...

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...

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...

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...

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 ...

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...

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...

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...

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...

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...