ESPE Abstracts

The homozygous deletion c.2422delT in the carboxyl-terminal coding region of the hTPO gene results in a frameshift mutation and leads to an early stop codon in exon 14 of the gene (p.Cys808AlafsX24). Combination with double heterozygous DUOX2 mutations was also reported. We present the data on the clinical course of CH in three patients with permanent congenital hypothyroidism (CH) harboring one and the same mutation. Pat1 was followed 29 yrs; after an uneventful pregnancy (no...

Background: Septo-optic dysplasia (SOD) is a rare congenital anomaly, clinically heterogeneous, combining optic nerve and pituitary gland hypoplasia, midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis is made when two or more features of the classic triad are present. HESX1, SOX2, SOX3, FGF8, FGFR1, PROKR1, SHH, are implicated in the etiology of SOD.Objective and hypotheses: Description of a ...

Background: Congenital pituitary hormone deficiency is etiologically heterogeneous and occurs in 1:4000 live births. Of those, isolated GH deficiency (IGHD) is the most common, followed by combined pituitary hormone deficiency with or without extrapituitary anomalies.Objective and hypotheses: Description of a patient with IGHD, associated with multiple additional organ anomalies.Method: Case report, Sequencing of HESX1, SOX2</e...

Congenital hypothyroidism (CH) is a partial or complete loss of function of the thyroid gland resulting in absent or decreased synthesis and secretion of thyroid hormones affecting infants since birth. Mutations of the hTPO gene are associated with autosomal recessive forms of CH. Based on our TSH screening results, the number of children with eutopic primary CH is increasing. Molecular biology techniques can identify the CH genetic cause after selection based on family histor...

Of the several genetic defects responsible for thyroid dyshormonogenesis, mutations in TPO gene are the most prevalent causes of inherited defects in CH. Prevalent mutations are in exons 8-11 (catalytic site).Case presentation: Girl, born at 16d after term, before the introduction of the neonatal screening, with asphyxia, BL 55 cm, BW 4 kg. Because of insufficient weight gain, feeding difficulties, prolonged jaundice she was referred to a pediatric endoc...

Background: The transcription factor (TF) SOX2 is expressed early in the embryological development and is essential for the development of many structures like neural system, pituitary gland, eyes, ears, esophagus, and gonads. The most common clinical manifestations of mutations in the SOX2 gene are eye abnormalities (anophthalmia/microphthalmia, coloboma, nystagm, and refractive errors) and hypopituitarism (deficiency of gonadotropic, GH, TSH, and ACTH). Molecular genetic stu...

Introduction: Systematic newborn screening (NBS) based on 17 ɑ OHP, followed by molecular analysis for the most frequent adrenal enzyme steroid abnormalities in newborns at high risk for congenital adrenal hyperplasia (CAH), allowed to reveal the nature of genotype-phenotype correlations in most of the patients (pts) presented as “classical CAH” – salt wasters (SW) or simple virilizers (SV). According to the enzyme rest activity they co...

Introduction: The first patient with Temple syndrome (TS, ORPHA 254516) was described in 1991. The genetic condition is rare (prevalence<1/1000 000, <100 described patients). An abnormal expression of genes in the imprinted 14q32.2 region has been revealed. The 14.32.2 region is characterized by three differentially methylated regions (DMRs) and a cluster of paternally and maternally expressed genes. Main clinical features are growth delay (pre-and postn...

The CYP21A2 and the TNXB genes are highly homologous with their corresponding pseudogenes (CYP21A1P and TNXA), leading to frequent homologous recombination. The TNXB includes 43 exons, the mRNA encodes tenascin-X (TNX), an extracellular matrix glycoprotein, highly expressed in connective tissue.CAH patients with a "contiguous gene syndrome" comprising a deletion of both genes- CYP21A2 and TNXB have been described. Chimeric genes generated by larg...