ESPE Abstracts

Introduction: Sex determining region Y (SRY gene) located in chromosome Yp11.3, initiate gonadal differentiation into testes, which subsequently leads to development of Wolffian duct, male external genitalia, and regression of Mullerian duct. Not only SRY, SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10 contribute for gonadal differentiation. Imbalance of expression of above genes in the absence of SRY leads to 46, XX testicular DSD. We describe a case of 46...

Introduction: The wide aromatization of androgens during puberty is responsible for the rapid bone maturation at this age. In this context, the use of aromatase inhibitors (AIs) has been justified by the potential to slow down the advancement of bone age and thus improve growth. For more than two decades, studies have pointed out the validity of AIs to improve the predicted final height (PFH). However, data on near-final height (NFH) of children treated with A...

Background: Childhood obesity is a growing global problem that linked with health issues including type II diabetes. Early screening and diagnosis using OGTT and/or HbA1c of obese children is recommended in order to minimize type II diabetic risk. OGTT requires fasting and two venesections impeding the child’s compliance. In contrast, hemoglobin A1c (HbA1c) is a convenient test and evaluation of HbA1C as a diagnostic tool of type II diabetes in the obese...

Background: Isolated GH deficiency type II (IGHD II), the autosomal-dominant form of GH deficiency, is mainly caused by specific splicing mutations in the human GH (hGH) gene (GH-1). These mutations, occurring in and around exon 3, cause complete exon 3 skipping and produce a dominant-negative 17.5-kDa GH isoform that reduces the accumulation and secretion of wt-GH.Objective and hypotheses: As the severity of IGHD II inversely correlate...

Introduction: About 20 thousands of new cases of obesity (Ob) are first registered in children and adolescents in Ukraine annually (morbidity 2.72/1000, prevalence 13.50/1000 of the corresponding population on 01.01.2016). Adolescent Ob shows catastrophic rise (prevalence 8.9/1000 in 2001 vs 28.3/1000 in 2015). Completely unclear the role of Ghr in the etiopathogenesis of obesity in adolescents.Methodology: A total of 39 obese children with HD (14 boys, ...

Introduction: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Rearrangements affecting chromosome 15 are rare and affected patients show a variety of nonspecific features...

Congenital adrenal hyperplasia is an autosomal recessive inborn error of metabolism due to impaired activity of one enzyme required for cortisol biosynthesis. Steroid 21-hydroxylase (21OH) deficiency is the cause in more than 90% of the patients. The 21OH is encoded by the CYP21A2 gene located on the chromosome 6 in the region known as the RCCX module. Due to the high homology and tandem-repeat organization of the RCCX module, this region of the genome is subjected to...

Background: Neonatal diabetes (ND) is a rare monogenic form of diabetes presenting within the first six months of life. The most frequent causes include mutations in KCNJ11, ABCC8 and insulin genes, but up to 40% of patients remain without a molecular genetic diagnosis.Case presentation: Case 1: a female newborn of non-consanguineous parents, born at 35 weeks, SGA. She presented with hyperglycemia at second day of life...

Background: In total of 48,XXYY Syndrome occurs in 1:20.000–1:50.000 male births. It used to be considered as a variant of Klinefelter syndrome, but now it is considered as a distinct clinical and genetic entity with increased risks for congenital malformations, additional medical problems and more complex psychological and neurodevelopmental involvement. 48,XXYY Syndrome results from the fertilization of a normal female oocyte (Xm), with an aneuploid sperm (XpYpYp) produ...

Background: X-Linked hypophosphatemic rickets (XLH) is a disorder of phosphate homeostasis, characterized by renal phosphate wasting and hypophosphatemia, with normal to low 1,25-dihydroxy vitamin D3 serum levels. PHEX is the gene defective in XLH and different mutations and genomic rearrangements have been described in different families affected by this disease.Objectives: To detect inactivating mutations in the PHEX g...