ESPE Abstracts

Introduction: Hypoglycemia can be caused by inherited metabolic disorders, but sometimes hypopituitarism causes hypoglycemia separately or in combination with other health problems. It is important to diagnose the medical problem and start the treatment to avoid hypoglycemia complications.Case report: 5 years old male patient with recurrent fasting ketotic hypoglycemia, post-prandial hyperglycemia, with short stature, wa...

Introduction: Hypoglycemia can be caused by inherited metabolic disorders, such as glycogen storage disease (GSD) type 0a, which is mild form of the GSD. After diagnosis patient received appropriate treatment and care. Assessment 3 years after diagnosis may improve the treatment of key disorders in this disease and allow the identification of disorders occurring in long-term patients.Case report: 4 years old female patie...

Introduction: Single, large scale mitochondrial DNA (mtDNA) deletions (SLSMDs) comprise clinically heterogeneous group of rare and progressive multisystem disorders. Diverse initial symptoms, evolving and overlapping phenotype together with genetic heterogeneity pose a major challenge in diagnosis and treatment. We report on a young girl with SLSMD who presented with unique constellation of initial symptoms including diabetes mellitus (DM), macrocytosis, and s...

Context: Turner Syndrome (TS) is associated with ovarian dysgenesis leading to infertility in most of the cases. There are some options for fertility preservation in patients with sufficient follicle numbers. The most recently studied are oocyte preservation and ovarian tissue preservation. Due to premature ovarian failure among TS girls, the procedure should be performed as early as possible.The aim of this study is to ...

Background: Steroid 5-Alpha-Reductase-2 deficiency(5-ARD) is a result of mutations in the SRD5A2 gene. It causes disorder of sexual differentiation(DSD) in 46XY individuals with a variable genital phenotype. We present two siblings with a female external genitalia at birth and bilateral inguinal testes, raised as females. These are the first molecularly sharacterized patients from the Republic of Macedonia with a different clinical course due to the time of th...

Introduction: Beta thalassemia is a common genetic disorder in Mediterranean countries. Congenital hypothyroidism is also a condition resulting with deficiency of thyroid hormone in newborn infants. Autoimmune thyroid dysfunction in childhood patients with thalassemia major is uncommon and poorly described. We report a case of a child with two independent diseases - clinical hypothyroidism diagnosed in early childhood, and beta thalassemia major who developed ...

Context: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder. Individuals with PWS are at risk to develop sleep-disordered breathing, including obstructive and central sleep apnea syndromes. PWS patients commonly receive Growth hormone (GH) treatment. Concerns have been raised following reports of sudden death shortly after GH initiation. During recent years GH treatment was increasingly initiated earlier – commencing treatment already during the first...

Introduction: Patients with Floating-Harbor syndrome have broad spectrum of clinical presentation, but most of them have short stature, low birth weight, delayed bone age, delayed speech development, typical craniofacial features, anomaly of fingers and toes, cryptorchidism in males, renal anomalies, strabismus. Some of them are treated with growth hormone.Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- with...

Objectives: Survivors of childhood acute lymphoblastic leukemia (cALL) present elevated fracture rates compared to the general population. A polygenic risk score for estimated bone mineral density (BMD), named gSOS, validated to predict the risk of adult osteoporotic fracture, has been previously associated with significant fracture risk in childhood. We hypothesized that gSOS could be associated with long-term, bone health-related mobidities in survivors of c...

Objective: Clustering of rare diseases and private founder mutations is a common phenomenon in many founder populations such as Romani. Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to estimate the prevalence of 21-OHD and the frequency of particular CYP21A2 gene mutations in the Croatian Romani population. Methods. Data f...