hrp0084p1-160 | Miscelleaneous | ESPE2015

Septo-Optic Dysplasia Associated with Koolen-de Vries Syndrome: A Case Report

Aroyo Ani , Stoeva Iva , Stancheva Gergana , Koleva Reni , Kaneva Radka

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 ...

hrp0084p3-1099 | Pituitary | ESPE2015

Isolated GH Deficiency (IGHD) Associated with 7q11.23 Duplication Syndrome: a Case Report

Aroyo Ani , Stoeva Iva , Stancheva Gergana , Avdshieva Daniela , Kaneva Radka

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...

hrp0082p3-d1-624 | Adrenals &amp; HP Axis | ESPE2014

Genotype–Phenotype Correlations in Bulgarian Patients with c.293-13A/C>G Splice Mutation of 21CYPA2 Picked up by Neonatal Screening (NS)

Stoeva Iva , Dineva Ganka , Kirov Andrey , Kostova Antoaneta , Todorov Tihomir , Aroyo Ani , Todorova Albena , Mitev Vanio

Background: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by defects in one of the several adrenal steroidogenic enzymes. 80–95% of CAH are due to mutations in CYP21A2 gene encoding 21 hydroxylase. Its residual activity defines the clinical form. Except deletions and large gene conversions, nine pseudogene-derived mutations are responsible for 95% of all CAH alleles. The mutational distribution varies between diffe...

hrp0082p3-d1-626 | Adrenals &amp; HP Axis | ESPE2014

Cyp21a2 Mutation Spectrum in Bulgarian Cah Patients

Todorova Albena , Kirov Andrey , Stoeva Iva , Todorov Tihomir , Dineva Ganka , Kostova Antoaneta , Aroyo Ani , Mitev Vanio

Background: Congenital adrenal hyperplasia (CAH) is a group of inborn errors of steroidogenesis. It is mainly caused by steroid 21-hydroxylase coding gene (CYP21A2) mutations. More than 30% of the CYP21A2 mutations are deletions, with ethnic specific differences. The Bulgarian mutational spectrum of CYP21A2 gene is unknown.Objective and hypotheses: To determine CYP21A2 mutation spectrum in Bulgarian CAH patients.<p...

hrp0082p3-d3-912 | Pituitary (1) | ESPE2014

Screening for SOX2 Mutations in Bulgarian Patients with Congenital Hyposomatotropism: First Results

Aroyo Ani , Stoeva Iva , Dacheva Daniela , Kaneva Radka , Mitkova Atanaska , Oscar Alexander , Haikin Vassil , Mitev Vanio

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...

hrp0082p3-d1-631 | Adrenals &amp; HP Axis | ESPE2014

Homozygous c.923dupT Combined with Heterozygous c.334G>A CYP21A2 Mutation: a Case Report from the Bulgarian CAH Screening Programme

Kostova Antoaneta , Stoeva Iva , Kirov Andrey , Dineva Ganka , Todorov Tihomir , Todorova Albena , Stefanova Elissaveta , Kazakova Krassimira , Aroyo Ani , Mitev Vanio

Background: This case underlines the importance of a newborn screening programme combined with genotyping for confirmation and prognosis of disease severity.Objective and hypotheses: Case presentation of a girl with three CYP21A2 mutations.Method: Girl, born from first uneventful pregnancy per vias naturalis. Birthweight 3200 g, birthlenght 50 cm. Intensive jaundice, start at d3, necessitating phototherapy. Discharged from...