ESPE Abstracts

Background: Heterozygous inactivating mutations in the calcium sensing receptor (CaSR) gene cause mild hypercalcemia, normal to slightly elevated parathormone (PTH) levels and may vary from an asymptomatic clinical picture to a mild course. This clinical picture is also called familial hypercalcemic hypocalciuria. In this study, it is aimed to present two sibling cases due to CaSR mutation with interesting features.Case...

Introduction: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disease that caused by mutations in the vitamin D receptor (VDR) gene. Hypocalcemia, high alkaline phosphatase, secondary hyperparathyroidism, high 1.25-OH vitamin D (1.25-OHD) levels despite normal 25-OH vitamin D (25-OHD) levels are diagnostic. The clinical signs are rickets, short stature, recurrent lung infections and total/subtotal alopecia. Here, we present a case of...

Introduction: Beta thalassemia major (βTM) is an autosomal recessive anemia characterized by a defect in the production of the β-globin chain of hemoglobin. There may be endocrine problems secondary to hemochromatosis in the clinical follow-up of the patients. Here, a case who was followed up with the diagnosis of βTM, consulted for primary amenorrhea and diagnosed with 5-alpha reductase deficiency (5ARD) is presented and clinical follow-up expe...

Introduction: Chronic inflammation is closely associated with metabolic disorders such as obesity, insulin resistance and Type 2 DM, and is dependent on abnormal cytokine production and activation of inflammatory signaling pathways. Adipose tissue is a metabolically active organ that can be a source of low-grade chronic inflammation in obese individuals. Our aim in this study; to determine whether there are changes in proinflammatory and antiinflammatory cytok...

Introduction: A derivative chromosome (der) is a structurally rearranged chromosome generated either by a chromosome rearrangement involving two or more chromosomes or by multiple chromosome aberrations within a single chromosome. Balanced segmental anomalies such as inversion or translocation can lead to derivative chromosomes with partial duplication and deletion during meiosis. Here we present two patients with hypergonadotropic hypogonadism and various acc...

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: 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: APECED Syndrome; is a rare, autosomal recessive disease caused by mutations in the autoimmun regulatuar AIRE gene on the chromosome 21. Although classical triad is mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency; endocrine / non-endocrine involvement may also be seen. Possible involvement should be evaluated without any clinical signs. We report a case of APECED syndrome with autoimmune hypophysitis secondary to growth hor...

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...