ESPE Abstracts

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,...

Introduction: High doses of biotin are reported to cause incorrect results in various immunoassays in some patients. However, there is no systematic study regarding biotin interference in childhood.Aim: To assess thyroid function with different methods in subjects with biotinidase deficiency, to determine the factors causing interference, and to investigate the efficiency of the methods for overcoming interference.Method: The study...

Background: There exists limited data regarding genetic etiology of hypophosphatemic rickets in Turkey.Objective and hypotheses: To investigate the type of genetic defect in 16 index children and their families (12 unrelated, 1 related).Method: Following clinical and laboratory assessment, PHEX analysis was made initially unless a mutation in another gene was suspected. If negative, FGF23, SLC34A3, SL...

Background: Estimation of the child’s genetic height potential (target height) is an important tool in evaluating growth disorders. Midparental height (MPH) calculated as (Mothers height+Fathers height)/2±6.5 cm), used for this purpose, represents the child’s expected height based on parental heights.Objective and hypotheses: To evaluate the classical MPH calculations for our population and to explore the optimal MPH model using different ...

Background: MODY is an autosomal dominant inherited type of diabetes with significant genetic heterogeneity. To date, there are mutations in more than ten different genes that result in the MODY phenotype and new mutations causing MODY are still being found.Objective and hypotheses: In this study, we aimed to perform a molecular analysis of pediatric MODY patients by next-generation sequencing which enables the simultaneous analysis of multiple genes in ...

Background: Pancreas aplasia (PA) and neonatal diabetes mellitus (NDM) syndrome is a rare disease that usually presents in the 1st months of life.Objective and hypotheses: We aimed to characterize molecular genetic defects in a cohort of six NDM/PA patients with up-to-date unknown pathogenesis with optimum genetic testing.Method: As part of our ESPE-RU-project ‘Understanding the molecular basis of diabetes mellitus associated ...

Background: C1q/tumor necrosis factor-related proteins (CTRPs) are the recently recognized members of the adipokine family, secreted from adipose tissue. Some types of CTRPs, including CTRP-13, play an important role in energy metabolism in humans. Also, CTRP-13 was found as an anorexigenic factor in experimental studies.Objective: We aimed to investigate serum CTRP-13 levels in obese and healthy children, as well as the...

Background: Resistance to thyroid hormone alpha (RTH-α) is characterized by varying degrees of symptoms and findings related to hypothyroidism. However, diagnosis is difficult since thyroid-stimulating hormone (TSH) levels are normal. Free triiodothyronine (fT3) and free thyroxine (fT4) levels can also be normal, but normo- or macrocytic anemia is generally present in the reported cases. L-thyroxine can alleviate some symptoms; however, there is limited ...

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: The etiology of infantile colic is unknown. Its timing overlaps with that of minipuberty. To the best of our knowledge, the relationship between these entities has not been investigated. In this study, we aimed to assess the relationship between minipuberty and infantile colic by measuring the levels of sex steroids in saliva among infants with and without infantile colic.Methods: Saliva samples were collecte...