ESPE Abstracts

Background: Desert Hedgehog (DHH) gene acts on early testicu-lar development, testis cord formation and differentiation of fetal Leydig cells. It also has a role in nerve sheath formation. DHH gene mu-tations is a very rare cause of 46,XY gonadal dysgenesis (GD). Gonadal tumors and peripheral neuropathy have been associated with DHH mutations.Aim: To present three patients with 46,XY GD due to novel homozygous DHH muta...

Background: 17β-Hydroxysteroid Dehydrogenase3 (17b-HSD3) deficiency is a rare autosomal recessive disorder, caused by a mutation of the HSD17B3 gene. The phenotypic spectrum ranges from normal-appearing female external genitalia to microphallus with hypospadias and variable degrees of genital ambiguity. 17b-HSD3 deficiency phenotype is variable, leading to misdiagnosis especially with partial androgen insensitivity syndrome and 5alfa reductase deficiency.<p c...

Introduction: Growth hormone (GH) treatment is used to accelerate growth in patients with Turner syndrome (TS). During treatment, evaluation of IGF-1 is strongly recommended for efficacy and safety. Some patients, despite optimum GH doses, have persistent high IGF-1 levels. In this study, we aimed to evaluate the relationship between IGF-1 levels, IGF1R and growth responses of TS patients on GH treatment.Method: 54 patie...

Introduction: It is thought that long-term growth hormone (GH) treatment may impair hepatic glucose production and insulin-dependent glucose utilization, and therefore it is attributed that GH may adversely affect glucose metabolism.Objective: In our study, we aimed to examine the effects of GH treatment on insulin sensitivity and glucose metabolism in patients with GH deficiency after 1-year of treatment.<p class="a...

Introduction: The frequency of solid and hematological malignancies has been reported to be higher in children with Turner syndrome than in the general population. Mycosis fungoides (MF) represent the most common type of cutaneous T-cell lymphoma, which is a low-grade lymphoproliferative disease. To the best of our knowledge, the coexistence of Turner syndrome and MF has not yet been reported. Here, we report a girl with Turner syndrome and MF.<p class="ab...

Introduction: Langerhans cell histiocytosis (LCH) is a rare disease that the clinical presentation can vary from the involvement of a single region to widespread multiorgan involvement. The most common central nervous system infiltration is observed in the hypothalamic-pituitary region, which frequently leads to central diabetes insipidus (CD&Idot;) and occasionally to anterior pituitary hormone deficiencies. There is limited data on endocrinological findings,...

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...

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...