Person: GÜRAN, TÜLAY
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GÜRAN
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TÜLAY
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Publication Open Access Constitutional Growth Delay Pattern of Growth in Velo-Cardio-Facial Syndrome: Longitudinal follow up and final height of two cases(2008) BEREKET, ABDULLAH; Turan, Serap; Ozdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, AbdullahWe report two patients with velo-cardio-facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS -3.4 SDS), but showed spontaneous catch-up and ended up with a final height of -2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty.Publication Metadata only Cushing's syndrome due to a non-adrenal ectopic adrenocorticotropin-secreting Ewing's sarcoma in a child(2009) BEREKET, ABDULLAH; Guran, Tulay; Turan, Serap; Ozkan, Behzat; Berrak, Su Gulsun; Canpolat, Cengiz; Dagli, Tolga; Eren, Funda Sirin; Bereket, AbdullahEctopic ACTH syndrome (EAS) is extremely rare in the pediatric age group. Sarcomatous tumors causing EAS are even rarer. We report a 9 year-old girl presenting with Cushing's syndrome caused by ectopic ACTH production by a Ewing's sarcoma. This case illustrates that rapid appearance of Cushingoid symptoms, absence of growth retardation and the presence of hypokalemia are suggestive clues for ectopic ACTH production as the source of Cushing's syndrome.Publication Metadata only Alopecia: association with resistance to thyroid hormones(2009) BEREKET, ABDULLAH; Guran, Tulay; Bircan, Rifat; Turan, Serap; Bereket, AbdullahResistance to thyroid hormone (RTH) syndrome is caused by thyroid hormone beta receptor (TRbeta) mutations. Goiter, learning disabilities, psychological abnormalities, sinus tachycardia, hearing deficits, short stature, and growth delay are among the most common symptoms in patients with RTH. Alopecia areata (AA) is an autoimmune disease of the hair follicle, frequently associated with other autoimmune disorders. In some cases local alopecia of different genetic backgrounds could be misdiagnosed as AA. We describe here clinical, biochemical and genetic features of a family having RTH syndrome, caused by a novel TRbeta mutation, coexistent with alopecia. Mutational analyses of the TRbeta gene and the hairless gene (HR) in genomic DNA were performed. The index patient is a 9-4/12 year-old boy with RTH due to a novel heterozygous missense mutation of the TRbeta gene (I353V), and diffuse, patchy alopecia without autoimmune thyroid disease. This mutation was also detected in his father and elder brother, who also have local alopecia. One of his paternal aunts and paternal grandmother have local alopecia and they have previously been operated for goiter. Although they refused any genetic analysis, the pre-operative medical report of the paternal aunt was compatible with RTH. A second paternal aunt has alopecia totalis universalis but has no RTH mutation in genomic DNA. Genomic DNA sequence of the HR gene of the family (index patient, two brothers, father, mother and second paternal aunt) was normal as well. CONCLUSION: We speculate that RTH due to a novel I353V TRbeta mutation could be causally related to different phenotypic expressions of alopecia in this family, either by a direct effect of unresponsiveness to T3 of the hair follicle or by the modulated action of the HR gene.