ESPE Abstracts

Diabetic ketoacidosis (DKA) is accompanied by intracerebral complications from 0.3% to 1%. Cerebrovascular events account for 10% of intracerebral complications. Our aim is to present a case of symptomatic cerebral infarction as a serious complication of DKA and draw attention to the management of DKA treatment. A 3.5-years-old male patient was referred to our department with DKA for further evaluation and treatment. Before coming to our center, insulin and sodium bicarbonate ...

Cushing syndrome (CS) is a rare disease in children associated with weight gain and stunting of their linear growth. In older children, pituitary adenomas are a more common cause of CS. The clinical presentation of CS varies in children such as truncal obesity, striae, facial plethora, hypertension, and PKOS-like (polycystic ovary syndrome) feature. Here in we report an adolescent presented with obesity, short stature and late puberty but without metabolic syndrome or hirsutis...

The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. Herein we report five patients with 1α-hydroxylase deficiencies. We studied six patients from three families who diagnosed as 1α-hydroxylase deficiency clinically. All patients had hypocalcemia, hypophosphatemia, hyperphosphatasemia, elevated serum PTH, normal or high v...

Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissue- nonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia.The newborn was evaluated for respiratory failure and generalized hypoton...

Background: The prevalence of childhood obesity is increasing all over the world and leading to an increase in obesity-related health problems such as adult obesity, cardiovascular diseases, type 2 diabetes and depression. There is no nationwide systematic study investigating obesity trends in Turkish children.Objective and hypotheses: The aim of this study is to determine the prevalence of overweight and obesity among school age children, to compare the...

Background: Short stature and gonadal dysgenesis are the main characteristics in Turner syndrome (TS). There are conflicting reports about the body proportions in TS. Some studies described a proportionate short stature, whereas others reported disproportionately short legs. It is known that body proportions are genetically controlled and are different in different populations or ethnic groups.Objective and hypotheses: To evaluate body proportions assess...

Objective: To evaluate metabolic syndrome parameters in children with premature adrenarche (PA) during presentation in prepuberty and afterwards in puberty.Methods: 54 (48 femals, six males) patients (mean age 12.5±2.4 years) diagnosed with PA and followed until puberty were included in our study; as the control group 28(22 females, six males) (age, sex, puberty matched) healthy children (mean age 13.5±2.2 years) were taken. CAH was ruled out i...

Background: GH treatment may cause insulin resistance, which is associated with metabolic syndrome and co-morbidities.Objective and hypotheses: The aim of our study was to evaluate GH deficiency (GHD) patients on GH treatment for hyperlipidemia, insulin resistance and carotid intima media thickness (CIMT) and left ventricular global longitudinal strain (GLS) and assess cardiovascular tissue level effects of insulin sensitivity.Meth...

Background: Mutations in CHD7 cause a rare multi-organ system disorder, CHARGE syndrome (CS). Genital hypoplasia has been described in 60-80% of reported cases because of idiopathic hypogonadotropic hypogonadism (IHH), which is a result of inadequate GnRH secretion in the hypothalamus. Correspondingly, IHH and anosmia are expected in cases with CHD7 mutation. However, due to the phenotypic spectrum of CHD7, mutations have also be...

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...