ESPE Abstracts

Bardet-Biedl syndrome (BBS) is a rare and multisystemic disorder characterized by rod-cone dystrophy, post-axial polydactyly, learning difficulties, renal abnormalities, obesity and hypogonadism. The disorder is genetically heterogeneous. To date, 21 genes present on different chromosomes have been mapped. The most common genes are BBS1 (locus 11q13) and BBS10 (locus 12q21.2). We aimed to report two family with five affected children with typical clinical features of Bardet-Bi...

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...

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...

Objective: Familial glucocorticoid deficiency (ACTH resistance); is a rare chronic adrenal insufficiency problem. Genetic tranmission is autosomal recessive. Glucocorticoid deficiency is characterized by increased ACTH levels and normal or partial incomplete aldosterone production. The familial glucocorticoid deficiency, which is a defect in the melanocortin receptor. Hypoglycemia, convulsions, increased pigmentation in the skin can be seen from the earliest stages of life.</p...

Objective: Noonan syndrome; is an autosomal dominant genetic disorder characterized by short stature, low hair line, webbed neck, cubitus valgus, chest wall deformities and congenital heart defects. Here; the patient was admitted to hospital by parents due to undescended testis and finally infant and mother were diagnosed Noonan syndrome.Case: A 14-month-old male patient was admitted to hospital because of bilateral undescended testis. On physical examin...

Background: Tacrolimus is highly potent immunosuppressant agent. Despite it is quite prophylactic effect on renal allogreft rejection, the most marked side effect of tacrolimus is lead to posttranslated diabetes mellitus. There are some predictive risk factors which are determined on development of tacrolimus related diabetes mellitus: Advanced age, familial history, genetic factors, ethnicity, impaired glucose tolerance or metabolic syndrome in pre-transplantation period, obe...

Background/Objective: The olfactory bulb (OB) and pubertal development have a close relationship as they share a common ontogenetic origin. The aim of this study is to analyze the potential relationship between the precocious puberty in girls as a sign of early pubertal timing and their OB volume as an indicator of its functional activity.Design: In the study group (n=125), OB volume, pituitary height, body ...

Objective: Congenital hypothyroidism; currently, it is one of the most common causes of preventable mental retardation in children. Thyroid dysgenesis, thyroid hormone production and efficacy disorders or temporary hypothyroidism can be seen with the tables. In this study; The aim of this study was to evaluate the etiology and prognosis of congenital hypothyroid patients guided by national screening and neonatal centers. In this way; Our aim is to produce the ...