ESPE Abstracts

Background: Cystic fibrosis is an autosomal recessive genetic disorder affecting typically the lungs, the pancreas, the gastrointestinal tract and tissues that produce mucus secretion, such as sweat glands. Impaired glucose tolerance and cystic fibrosis-related diabetes are the most common complications of cystic fibrosis. Cystic fibrosis-related diabetes is another type of diabetes mellitus and carries some of the characteristics of type1 and type2 diabetes.<p class="abst...

Background: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in patients with a normal female phenotype and 46, XX karyotype. Various anomalies may accompany MRKH. The number of cases with accompanying hyperandrogenemia is limited.Case presentation: We describe a combination of Mullerian agenesis and hyperandrogenemia (total testosterone level 0.85 ng/ml) in a patient presenting with primary amenorrhea and mild hir...

Context: Thyroid growth and insulin like growth factor-1 (IGF-1) change depending on pubertal status and body mass index (BMI). The previous studies have reported some inconsistent results on association between thyroid volume (TV) and IGF-1 in terms of puberty and obesity.Objective: The aim of present study is to investigate pubertal effect of on TV and IGF-1 in morbid obese children.Design: The study population consisted of 250 c...

Introduction and objective: Atherosclerosis is one of the most important causes of obesity-related diseases. The clinical symptoms usually begin in adulthood, but the pathological changes in vascular structure could be observed in a much earlier period. Carotid intima–media thickness (cIMK) which is one of the noninvasive marker of early atherosclerotic changes, has been shown to be significantly increased in obese children. Subepicardial adipose tissue (SAT) is a compone...

Introduction: Hypergonadotropic hypogonadism is mainly characterised by streak or dysgenetic gonads. It is primer gonadal insufficiency which occurs as a result of chromosome abnormalities, gonad developmental and steroid synthesis defects. However, Y microdeletions associated hypergonadotropic hypogonadism due to disorder of sexual development has been reported, there are no many studies. Moreover, it is not known enough to contribution for development of sexual ambiquity. Ai...

Background/Aim: Although there are many well-known components that affect the growth response to recombinate growth hormone (rGH), its effect on total height gain is still not fully predictable. Current knowledge on the relationship between growth response to rGH and its immunogenicity is limited. The aim of the study was to reveal its relationship with the antibody formation against rGH and growth-promoting effect.Materials and Methods:...

Background/Aim: Although there are many well-known components that affect the growth response to recombinant growth hormone (rGH), its effect on total height gain is still not fully predictable. A limited number of studies have been reported revealing up-to-date data on the relationship between immunogenicity and growth-promoting effects of rGH. The study aimed to examine the antibody formation against rGH and its consequences on growth-promoting effect in chi...

Introduction: Mucopolysaccharidoses (MPS) are lysosomal storage diseases. The frequency of endocrinological problems such as osteoporosis and hypothyroidism among children with MPS is not known and there are limited studies. In this study, the clinical findings, bone health and other endocrine functions of patients with MPS diagnosis and access to current treatments were retrospectively evaluated.Materials and Methods:Th...

Background: Secondary PHA is a transient aldosterone resistance condition mostly occurring in relation with urinary system infection and/or malformations. Secondary PHA cases and very few case series have been reported in the literature. In this article, we reported a case series of eight patients including different clinic presentations which have not as yet been reported in the literatüre and their long-term follow-ups.Method: Patients who have se...

Background: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare condition inherited as an autosomal dominant trait. The responsible genetic defect is in the region 10p. Phenotype is very similar to DiGeorge Syndrome (DGS) which occurs due to 22q11 microdeletion.Method: An 8-year-old girl was referred to Pediatric Endocrinology outpatient department because of hypoparathyroidism. She was born at 36 weeks after a normal pregnancy and ...