ESPE Abstracts

Introduction: Gonadotropin releasing hormone analogs(GnRHa) have been used safely for many years in the treatment of central precocious puberty(CPP).Although rare; pain, swelling, erythema at the injection site are known local side effects in patients receiving GnRHa treatment and are temporary.Sterile abscess(SA) development is also one of the rare local side effects.We presented three cases of treatment failure due to the development of SA after GnRHa therap...

Objective: The incidence of congenital hypothyroidism (CH) has increased worldwide. Lowering cut-off in screening programs has led to an increase in the rate of transient CH. We aimed to evaluate the rates of permanent and transient CH in cases referred from the screening program and to investigate the clinical and laboratory factors to predict the transient CH.Methods: 109 cases referred from the screening program to ou...

Introduction: IMAGE Syndrome (#614732) is an autosomal dominant inherited syndrome as a result of CDKN1C mutation characterized by the association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. Here, long-term follow-up of a case with clinical IMAGE syndrome, no genetic mutation was detected, will be presented.Case: A three-month-old baby boy was brought wi...

Introduction: Isodicentric-Ychromosome;has phenotypic findings such as gonadal dysgenesis, short stature, Turner syndrome in girls, infertility in boys, and insufficient virilization. Here, a case with growth retardation, short statureand infertility findings, and isodicentric-Ychromosomal anomaly(in addition to tuberosclerosis) who underwent endocrine follow-up due to obesity will be presented.Case: The patient, who was...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnose...

Background: Osteogenesis imperfecta (OI) is a genetic disorder characterized by diffuse osteoporosis, recurrent fractures, and resulting deformities. Bruck syndrome (BS) is a rare autosomal recessive disease that manifests with many symptoms of OI. In addition to the deficiency of type I collagen in OI, congenital joint contractures also occur in BS. BS is caused by mutations of FKBP10 (BS type 1) and PLOD2 (BS type 2) genes encoding the chaperone-collagen com...

Background: Laron syndrome (LS) is a disorder of primary growth hormone (GH) resistance caused by genetic defects in GH and insulin-like growth factor 1 (IGF-1) axis. Here, we present the variable clinical spectrum in two sibling cases of Iraqi Arab origin with GH receptor (GHR) mutation.CASES: Two siblings referred to our clinic with the chief complaint of short stature. They had been born with a normal weight at term.Their parents were...

Introduction: SHOX deficiency is the most common cause of monogenic short stature and results in short stature with a highly variable phenotype. In this study, we aimed to detect SHOX gene pathologies in patients who applied to the pediatric endocrine outpatient clinic with short stature and who were found to have Madelung deformity on hand-wrist radiography, and to evaluate the clinical, laboratory features and responses to growth hormone (GH) treatment.<...

Resistance to thyroid hormone mediated by defective TRβ (RTHβ) or TRα(RTHα).Separate genes (THRA, THRB) undergo alternate splicing, generating nuclear receptors (TRα1, TRβ1, TRβ2) with distinct tissue distributions, which mediate thyroid hormone action; the function of a non-hormone binding protein (α 2), derived from the THRA locus, is unknown.RTHβ a dominantl...

Background: A subset of central obese but normal weight individuals has been identified, who harbor potentially increased risks for development of MS despite a normal BMI.Objective and hypotheses: We try to evaluate metabolic syndrome (MS) components of normal weight central obese adolescents in Korea stratified by waist-to-height ratio (WHR).Method: This is a cross-sectional study. Data were obtained from the Korean National Healt...