ESPE Abstracts

Key words: Dysgerminoma, gonadoblastoma, virilizationIntroduction: Gonadoblastoma is a rare ovarian tumor composed of sex cord cells and primitive germ cells. Although it is frequently seen in patients with 46,XY gonadal dysgenesis, it is also rarely seen in patients with a 46,XX karyotype. Here, we report a girl with a 46,XX karyotype presenting due to an uncommon cause of virilization, which was caused by bilateral gon...

Background: Familial Mediterranean Fever (FMF) is the most common hereditary periodic fever syndrome in Turkey. The effects of FMF on growth and puberty characteristics have yet to be investigated. This study aims to describe the features of children with FMF in terms of growth and puberty and compare them with healthy children.Methods: This retrospective study analyzed the clinical and laboratory records of 140 FMF-diag...

Background: In early-onset obesity, metabolic and cardiovascular problems like insulin resistance, hypertension, dyslipidemia, and metabolic syndrome start early in life. Our study aimed to investigate the relationship between metabolic and microvascular abnormalities in children with early-onset severe obesity using a non-invasive method, nailfold video capillaroscopy (NVC).Methods: In this cross-sectional study, 27 pat...

Background: Current Turkish growth reference charts based on anthropometric measurements of individuals with high socioeconomic status in Istanbul in 1989-2002 (TK2002) had shown an increase of mean adult height (1.4 and 2.7 cm in males and females) compared with 1978. Given recent improvements in nutrition, hygiene and access to preventive health services, we hypothesized that this positive secular trend may continue.Methods:</s...

Background: Deficiency of one or more pituitary hormones, often with growth hormone (GH) deficiency, is defined as multiple pituitary hormone deficiencies (MPHD) or congenital hypopituitarism (CH). CH cases are mostly sporadic and have a prevalence of 1/3000-4000 live births. There are many known and yet unknown molecular pathways explaining the complex structure and functions of the pituitary gland. Many different gross and small sequence variants in the gene...

Introduction: Short stature is a multifactorial condition caused by both genetic and environmental factors. Genetic causes include chromosomal disorders and diseases inherited by monogenic and multifactorial inheritance. The purpose of genetic evaluation in short stature is not only for diagnosis, but also to provide additional information to the patients and their families about prognosis of the disease, treatment approaches and genetic counseling.<p clas...

Background: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. 21-hydroxylase enzyme deficiency (21-OHD) occurs in 90–95% of all cases of CAH. Despite it being a treatable condition, if unrecognized, CAH may present with life-threatening cardiovascular collapse. Mortality in the first years is reported to be higher than in the general population. Neonatal screening for CAH is effective in detecting the salt-wasting f...

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

Background: Aromatase excess syndrome (AEXS) (OMIM 139300) is a rare condition characterized with gynecomastia in boys and macromastia in girls. Estrogen excess in boys can lead to prepubertal and pubertal gynecomastia, bone age progression and short adult stature. While most of girls are usually asymptomatic, there are few reported female patients with excessive breast growth, early puberty, menstrual irregularities, and short adult stature. Male and female children with AEXS...

Background: Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11OHD), a rare autosomal recessive disorder, is the second most common form of CAH, resulting in glucocorticoid deficiency, hyperandrogenism and hypertension.Objective and hypotheses: To investigate the specific CAH mutations in CYP11B1 gene and to examine for genotype-phenotype correlations.Method: 21 patients (n=9, 46, XX; <...