hrp0092p1-153 | Thyroid | ESPE2019

Homozygous c.2422delT hTPO Mutation in Three Patients with Congenital Hypothyroidism Followed Over 20 Years

Stoeva Iva , Mihova Kalina , Kaneva Radka

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...

hrp0089p3-p015 | Adrenals and HPA Axis P3 | ESPE2018

A Homozygous Mutation c.518T>A (p.lle173Asn) of the CYP21A2 Gene Presenting as Non-Classical Congenital Adrenal Hyperplasia (NCAH)

Karamfilova Teodora , Stoeva Iva , Mihova Kalina , Kaneva Rada , Tsochev Kaloyan , Iotova Violeta

Congenital adrenal hyperplasia due to P450c21 (21-hydroxylase) deficiency is an autosomal recessive disorder presenting as three phenotypes dependent on the residual enzyme activity: two classical ones (salt wasting and simple virilizing, SV) and the milder NCAH. All forms have increased adrenal androgens. Around 0.1% of Caucasians and up to several percent of certain ethnic groups are affected by NCAH. Most NCAH patients remain undiagnosed. Symptoms of NCAH may develop at any...

hrp0089p1-p257 | Thyroid P1 | ESPE2018

Results of the hTPO Mutational Screening in Bulgarian Patients with Congenital Hypothyroidism (CH)

Stoeva Iva , Mihova Kalina , Stoilov Boris , Koleva Reni , Mladenov Wilhelm , Iotova Violeta , Kaneva Radka

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...

hrp0089p2-p388 | Thyroid P2 | ESPE2018

Clinical Course in a Girl with Two hTPO Mutations – Homozygous c.1268G>A (p.Gly393Arg) and Heterozygous c.208C>G (p.Ala70Pro): 27 Years of Follow Up

Stoeva Iva , Mihova Kalina , Koleva Reni , Zheliaskov Mitko , Stoilov Boris , Kaneva Radka

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...

hrp0092p1-307 | Adrenals and HPA Axis (2) | ESPE2019

"CAH-X" Due to Homozygous Deletions of CYP21A2 and TNXB Exon 35 in a Newborn from the 17 OHP Screening

Stoeva Iva , Mihova Kalina , Georgieva Raliza , Vlahova Diana , Diankova Diana , Dimitrova-Dasheva Anna , Pramatarova Tania , Kaneva Radka

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...