ESPE Abstracts

Introduction: 17α-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal insufficiency characterized with decreased cortisol and sex steroid biosynthesis, overproduction of ACTH, and increased mineralocorticoids. The overproduction of corticosterone hinders the symptoms of glucocorticoid deficiency and causes sodium retention, hypertension, and hypokalemia in severe cases. Affected 46,XX and 46,XY individuals are phenotypically female in the...

Background: Primary adrenal insufficiency other than congenital adrenal hyperplasia (non-CAH PAI) is very uncommon in children but associated with a variety of molecular defects. Biosynthesis of adrenocortical hormones is reduced although the relation of steroid profiles with underlying molecular etiology is not yet studied.Objective: Investigation of clinical and steroid hormone profiles of a multicenter cohort of child...

Background: Hypoparathyroidism is a rare disease characterized by inadequate parathyroid hormone (PTH), resulting in hypocalcemia and hyperphosphatemia. Hypoparathyroidism can be transient, inherited, or acquired, and is caused by inability to synthesize or secrete PTH, abnormal parathyroid gland development, destruction of parathyroid tissue, or peripheral resistance to PTH.Methods: Medical records from 20 children and adolescents diagnosed with hypopar...

Pseudohypoparathyroidism (PHP) is a disorder of hormone resistance characterized by end-organ resistance to the actions of parathyroid hormone (PTH). The resistance primarily occurs in the renal proximal tubule, thus leading to hypocalcemia, hyperphosphatemia, and elevated serum PTH. Indicating the resistance in this tissue, patients with PHP show blunted phosphate excretion in response to exogenously administered PTH. In PHP type I, the patients additionally demonstrate blunt...

Endochondral bone formation regulates bone growth both during embryonic development and after birth. Several different autocrine/paracrine or hormonal mechanisms govern the regulation of endochondral bone formation. Among those is the pathway involving stimulatory G protein, which primarily mediates the actions of parathyroid hormone-related peptide (PTHrP) in the growth plate. PTHrP is synthesized in the perichondrial cells and chondrocytes at the end of bones. In the growing...

Background: Diagnosis and treatment of Cushing’s disease in children are challenging.Objective and hypotheses: Cabergolin is a long acting dopamine receptor agonist used for the treatment of patients with recurrent Cushing’s disease.Method: year-old female patient admitted to the hospital because of short stature, amenorrhea, facial and body hair growth, rapid weight gain, hair loss and excessive acne.<p class="abstex...

Background: Survival from brain tumors is increasing in children and these patients will likely have severely GH deficiency.Objective and hypotheses: To evaluate the effect of GH treatment (GHT) in children treated for brain tumor successfully.Method: Thirteen patients who received GHT after brain tumor treatment were evaluated retrospectively. Height SDS, annual growth rate SDS, height gain, and serum IGF1 levels were collected at...

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...

Background: Proopiomelanocortin (POMC) deficiency is characterized by severe, early-onset hyperphagic obesity and congenital adrenal insufficiency, the latter secondary to ACTH deficiency.Case: 3.5 years old female patient whose initial diagnosis was neurometabolic disease because of motor mental retardation, ataxia, and bilateral hyperintense lesions in the basal ganglia in magnetic resonance imaging, increased lactate-lipid peak in proton magnetic reso...

Background/Aim: Sex hormones drive organizational and activational changes in craniofacial structures and various regions of the brain and establish a sexual dimorphism in the re-shaping of the brain and related structures during puberty. Although the evolutionary approach, which accepts the brain and related structures as secondary sex characteristics since they are target organs for sexual selection, increases awareness of the role of sex hormones in sex-spe...