Person: GÜRAN, TÜLAY
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GÜRAN
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TÜLAY
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Publication Metadata only Predictors of surgical outcomes in boys with hypospadias(2022-09-01) GÜRAN, TÜLAY; Scougall K., Bryce J., Baronio F., Boal R. L. , Castera R., Castro S., Cheetham T., Costa E. C. , Darendeliler F., Davies J., et al.Publication Metadata only Venous thrombosis in a pseudohypoparathyroidism patient with a novel GNAS frameshift mutation and complete resolution of vascular calcifications with acetazolamide treatment(2023-01-01) TRUE, ÖMER; BUĞDAYCI, ONUR; GÜRAN, TÜLAY; BEREKET, ABDULLAH; Menevse T. S., Iwasaki Y., Abali Z. Y., Tosun B. G., Helvacioglu D., DOĞRU Ö., BUĞDAYCI O., Cyr S. M., GÜRAN T., BEREKET A., et al.Introduction: Pseudohypoparathyroidism type IA (PHP1A) is characterized by end-organ resistance to multiple hormones and Albright’s hereditary osteodystrophy (AHO). PHP1A is caused by inactivating mutations of the GNAS gene encoding the α-subunit of the stimulatory G protein (Gsα). In line with the underlying genetic defect, impaired inhibition of platelet aggregation has been demonstrated in some patients. However, no PHP1A case with thrombotic events has been described. Also, PHP1A cases typically have subcutaneous ossifications, but soft tissue calcifications are another common finding. Treatment options for those and other nonhormonal features of PHP1A are limited. Case Presentation: A female patient presented with short stature, fatigue, and exercise-induced carpopedal spasms at age 117/12 years. Diagnosis of PHP1A was made based on hypocalcemia, hyperphosphatemia, elevated serum parathyroid hormone, and AHO features, including short stature and brachydactyly. A novel frameshift variant was detected in the last exon of GNAS (c.1065_1068delGCGT, p.R356Tfs*47), showing complete loss of baseline and receptor-stimulated activity in transfected cells. The patient developed venous thrombosis and vascular and subcutaneous calcifications on both forearms after venous puncture on the right and extravasation of calcium gluconate during treatment on the left. The thrombosis and calcifications completely resolved following treatment with low-molecular-weight heparin and acetazolamide for 5 and 8 months, respectively. Conclusions: This case represents the first PHP1A patient displaying thrombosis and the first successful use of acetazolamide for PHP1A-associated soft tissue calcifications, thus providing new insights into the treatment of non-endocrinological features in this disease.Publication Metadata only Di̇yabeti̇n nadi̇r formu: mi̇tokondri̇yal di̇yabet tanisinda olgularla yol gösteri̇ci̇ bulgular(2022-05-13) GÜRAN, TÜLAY; Güran T.Publication Metadata only EP-004 maternal anti̇ti̇roi̇d İlaç kullanimina bağli konjeni̇tal guatr olgusu(2022-02-18) GÜRAN, TÜLAY; Güran T.Publication Metadata only Change of menarcheal age in schoolgirls living in Istanbul over the last 12 years(2022-09-01) GÜRAN, TÜLAY; GÜRPINAR TOSUN, BUŞRA; HALİLOĞLU, BELMA; DEMİRCİOĞLU, SERAP; HIDIROĞLU, SEYHAN; BEREKET, ABDULLAH; GÜRAN T., Alir F., Arslan Y. T. , Molla G., Sahin B., Sayar M. E. , Atay Z., Helvacioglu D., GÜRPINAR TOSUN B., HALİLOĞLU B., et al.Publication Metadata only Breast ultrasonography: How useful in the diagnosis of precocious puberty?(2022-09-01) BIYIKLI, ERHAN; BUĞDAYCI, ONUR; DEMİRCİOĞLU, SERAP; GÜRAN, TÜLAY; BEREKET, ABDULLAH; Helvacioglu D., BIYIKLI E., BUĞDAYCI O., DEMİRCİOĞLU S., GÜRAN T., BEREKET A.Publication Metadata only Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations(2022-09-01) YILMAZ GÖLER, AYŞE MİNE; GÜRAN, TÜLAY; Dursun F., Genc H. M. , YILMAZ GÖLER A. M. , Tas I., Eser M., Pehlivanoglu C., Yilmaz B. K. , GÜRAN T.Publication Metadata only Challenges in the management of a 7 years old child with thyrotropin-secreting pituitary adenoma and the review of the literature(2023-01-01) KIRKGÖZ, TARIK; GÜRPINAR TOSUN, BUŞRA; ELTAN, MEHMET; HALİLOĞLU, BELMA; KAYGUSUZ, SARE BETÜL; SEVEN MENEVŞE, TUBA; BOZKURT, SÜHEYLA; ÖNEŞ, TUNÇ; GÜRAN, TÜLAY; DAĞÇINAR, ADNAN; BEREKET, ABDULLAH; DEMİRCİOĞLU, SERAP; KIRKGÖZ T., Abali S., Seker A., GÜRPINAR TOSUN B., ELTAN M., Helvacioglu D., HALİLOĞLU B., KAYGUSUZ S. B., Yavas Abali Z., SEVEN MENEVŞE T., et al.Introduction: Thyrotropin-producing pituitary adenoma (TSHoma) is a very rare disease, representing less than 1% of the pituitary tumours, present with elevated thyroid hormones and normal/high TSH concentrations. Case Presentation: A 7-year-old boy with nervousness was referred by his psychiatrist for elevated free T4, T3 and TSH levels. Initial evaluation revealed an elevated -subunit.Pituitary MRI demonstrated a macroadenoma. The patient underwent a trans-sphenoidal tumour resection (TSS) which showed positive immunohistochemical staining for TSH, growth hormone, and prolactin in tumoral tissue. Euthyroidism was achieved for one year after TSS, then, recurrence of tumour with elevated TSH and thyroid hormone levels necessitated a re-operation with TSS followed by gamma-knife radiosurgery. The euthyroid state was achieved and lasted for 2.5 years this time, but, due to the recurrence, medical treatment had been commenced with cabergoline and octreotide. Euthyroidism was maintained for the last 4 years on monthly octreotide treatment. A repeat MRI demonstrated no pituitary mass but a mass in the sphenoidal sinus had been detected. Removal of this mass by surgery did not achieve euthyroidism. 68Ga-DOTA-TATE PET/CT showed residual tissue extending from the pituitary region to the sphenoid sinus.The patient\"s bone age was advanced 2 years at diagnosis which became 4 years in one year after the diagnosis and remained so throughout follow-up, leading to a final height of -3.3 SDS below his target height at the age of 16 years. Conclusion: The diagnosis, treatment, and follow-up of TSHomas are challenging and short stature due to accelerated bone maturation is a complication of paediatric TSHomas.Publication Metadata only Nadi̇r bi̇r hi̇popi̇tui̇tari̇zm nedeni̇: MSS lenfomasi(2022-05-13) GÜRAN, TÜLAY; Güran T.Serum kortizol düzeyinin uzun süre ve anormal yüksek kalması sonucu vücutta gelişen durum cushing sendromu olarak adlandırılır. Çocukluk çağında cushing sendromu nadir görülmektedir. Genelde 7 yaş üzerinde hipofizer kaynaklı olup kilo artışı başlıca yakınmadır. Burada bacaklarda şişlik nedeniyle başvurup geç evrede tanı almış cushing sendromu olgusu sunulmuştur.Publication Metadata only Gonadal morphology in 46,XY gonadal dysgenesis: I-DSD registry-based study(2022-09-01) GÜRAN, TÜLAY; Tadokoro-Cuccaro R., Hughes I., Cools M., van de Vijver K., de Mendonca B. B. , Domenice S., Batista R. L. , Dallago R. T. , Gomes N. L. , Costa E. F. , et al.