ESPE Abstracts

Background: Short stature homeobox-containing (SHOX) gene that strongly affects height. Due to high prevalence of SHOX gene mutations, in all children with unexplained short stature should be investigated to benefit from early growth hormone (GH) treatment. The aim of this clinical study was to determine the rate of SHOX haploinsufficiency in short stature patients and describe their anthropometric measurements.Methods: Between...

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. Diagnosis, monitoring of treatment, adjustment of drug doses are important for height, puberty and psychologic status of patients and their families.Materials & Methods: Patients with classical CAH due to 21-hydroxylase deficiency who were followed regularly in pediatric endocrinology clinic between 1994 and 2019 were included in this study. Inform...

Introduction: Steroid hormone biosynthesis is initiated by the cholesterol side-chain cleavage enzyme (P450scc), which converts cholesterol to pregnenolone, the precursor of all steroid hormones. This enzyme is encoded by the CYP11A1 gene and is responsible for glucocorticoid, mineralocorticoid and sex steroid synthesis in the adrenal glands, gonads and placenta. Early or late onset adrenal insufficiency, 46, XY sex development disorder, and hypergonadotropic ...

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: 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...

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.<...

Introduction: Policystic ovarian syndrome (PCOS); is an endocrinopathy characterised by overlap of hyperandrogenism and hyperinsulinism and chronic anovulation. Etiopathogenesis is still not clearly defined. Fetuin-A is aserum glycoprotein. It is shown to play regulatory functions in many inflammatory processes. We aim to define the relationship of fetuin-A levels with hyperandrogenism and hyperinsulinism in PCOS patients and study the role in pathophysiology....

Introduction: Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disease characterized by very low serum magnesium levels. It is caused by mutations in the gene encoding the transient receptor potential melastatin 6 (TRPM6). It typically occurs in the first months of life with symptoms of increased neuromuscular excitability such as convulsions, muscle spasms and tetany. Prolonged untreated hypomagnesemia may lead to developmenta...