ESPE Abstracts

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...

Background: Androgens play a pivotal role in non-reproductive tissues, such as the kidney, heart, and liver, as well as the pancreas. Since the androgen receptor is expressed in pancreas and liver cells, this raises the possibility that excess testosterone results in insulin hypersecretion, and in fetuin-A, a protein produced in the liver. However, whether fetuin-A and insulin levels are affected by androgens in classic congenital adrenal hyperplasia (CAH) due...

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...

Aims: A decrease in health-related quality of life (HRQOL) measures among obese and overweight (OB/OW) children has been shown in several studies, but very little is known about the variables affecting HRQOL impairments. The aim of this study was to evaluate the relationship between HRQOL and sociodemographic characteristics, anthropometric measurements, metabolic parameters, mental symptoms and parental attitudes in the sample of OB/OWchildren.<p class="a...

Objective: Several studies have shown that sleep plays an important role as a modulator of metabolic homeostasis. Indeed, hundreds of studies have been published to examine the relationship between insufficient sleep, late bedtime and obesity. We have studied bedtime snack as another parameter. We suggested that it may be a risk factor for obesity. When we looked at the literature, we could not find any study about bedtime snack in childhood, but there are a few studies in adu...

Objective: Sedentary lifestyle obviously increases the risk of obesity. Reduced physical activity and increased screen-time seem to act as major determinants of the rapid increase of childhood obesity. Prevention of obesity is easier and more practical in comparison with treatment of obesity and its complications. Treatment of childhood obesity not only carries positive biopsychosocial consequences for the child but also serves as an important public health issue by preventing...

Introduction: Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous mutation in CYP19A1.Case report: A 4-month-old girl was referred due to cliteromegaly. Her mother had developed acne, hair loss,...

Background: Hyponatremia is defined as a serum sodium level below 135 mEq/l. It is associated with increased morbidity and mortality. Hyponatremia has many causes and can be classified as acute/chronic or hypo/hypo/euvolemic. The main rule in fluid and electrolyte disorders (and especially in hyponatremia) is excluding hypothyroidism and hypocortisolism and then making the correct diagnosis. Hypothyroidism and hypocorticolism can also cause euvolemic chronic hyponatremia but t...