Person: DEMİRCİOĞLU, SERAP
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DEMİRCİOĞLU
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SERAP
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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 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 Open Access Dysosteosclerosis: Clinical and radiological evolution reflecting genetic heterogeneity(2022-08-01) DEMİRCİOĞLU, SERAP; GÜRPINAR TOSUN, BUŞRA; GÜRAN, TÜLAY; BEREKET, ABDULLAH; ALAVANDA, CEREN; ARMAN, AHMET; DEMİRCİOĞLU S., Mumm S., ALAVANDA C., Kaygusuz B. S., GÜRPINAR TOSUN B., ARMAN A., Huskey M., GÜRAN T., Duan S., BEREKET A., et al.Dysosteosclerosis (DSS), the term coined in 1968 for ultrarare dysplasia of the skeleton featuring platyspondyly with focal appendicular osteosclerosis, has become generic by encompassing the genetic heterogeneity recently reported for this phenotype. We studied four unrelated Turkish patients with DSS to advance understanding of the new nosology. Patient 1 suffered femur fractures beginning at age 1 year. DSS was suspected from marked metaphyseal osteosclerosis in early childhood and subsequently platyspondyly accompanying patchy osteosclerosis of her appendicular skeleton. She harbored in SLC29A3, in 2012 the first gene associated with DSS, a unique homozygous duplication (c.303_320dup, p.102_107dupYFESYL). Patient 2 presented similarly with fractures and metaphyseal osteosclerosis but with no platyspondyly at age 2 months. She was homozygous for a novel nonsense mutation in SLC29A3 (c.1284C>G, p.Tyr428*). Patient 3 had ocular disease at age 2 years, presented for short stature at age 11 years, and did not begin to fracture until age 16 years. Radiographs showed mild platyspondyly and focal metaphyseal and femoral osteosclerosis. She was homozygous for a unique splice site mutation in TNFRSF11A (c.616+3A>G). Patient 4 at age 2 years manifested developmental delay and frequent infections but did not fracture. He had unique metadiaphyseal splaying and osteosclerosis, vertebral end-plate osteosclerosis, and cortical thinning of long bones but no mutation was detected of SLC29A3, TNFRSF11A, TCIRG1, LRRK1, or CSF1R associated with DSS. We find that DSS from defective SLC29A3 presents earliest and with fractures. DSS from compromised TNFRSF11A can lead to optic atrophy as an early finding. Negative mutation analysis in patient 4 suggests further genetic heterogeneity underlying the skeletal phenotype of DSS. (c) 2022 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.Publication Metadata only Low-dose ACTH Stimulation Test: Comparison of Cortisol Response at 30, 40, and 60 Minutes(2022-09-01) GÜRAN, TÜLAY; GÜRPINAR TOSUN, BUŞRA; ARIKAN, HAZAL; DEMİRCİOĞLU, SERAP; BEREKET, ABDULLAH; GÜRPINAR TOSUN B., ARIKAN H., DEMİRCİOĞLU S., BEREKET A., GÜRAN T.Publication Metadata only Diagnostic Features and Risk Factors for Childhood Thyroid Cancers(2022-09-01) ŞAHİN, PINAR; GÜRPINAR TOSUN, BUŞRA; YUMUŞAKHUYLU, ALİ CEMAL; GÜRAN, TÜLAY; HALİLOĞLU, BELMA; OYSU, ÇAĞATAY; DEMİRCİOĞLU, SERAP; BEREKET, ABDULLAH; ŞAHİN P., GÜRPINAR TOSUN B., YUMUŞAKHUYLU A. C. , GÜRAN T., Helvacioglu D., Abali Z. Y. , HALİLOĞLU B., OYSU Ç., BEREKET A., DEMİRCİOĞLU S.Publication Metadata only Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central(2023-03-01) KIRKGÖZ, TARIK; KAYGUSUZ, SARE BETÜL; ALAVANDA, CEREN; GÜRPINAR TOSUN, BUŞRA; ELTAN, MEHMET; SEVEN MENEVŞE, TUBA; GÜRAN, TÜLAY; ARMAN, AHMET; DEMİRCİOĞLU, SERAP; BEREKET, ABDULLAH; KIRKGÖZ T., KAYGUSUZ S. B., ALAVANDA C., Helvacioglu D., Abali Z. Y., GÜRPINAR TOSUN B., ELTAN M., SEVEN MENEVŞE T., GÜRAN T., ARMAN A., et al.Objectives: Central precocious puberty (CPP) develops as a result of early stimulation of the hypothalamic-pituitary-gonadal (HPG) axis. The loss-of-function mutations in the Makorin-ring-finger3 (MKRN3) gene appear to be the most common molecular cause of familial CPP. We aimed to identify MKRN3 gene mutations in our CPP cohort and to investigate the frequency of MKRN3 mutations.Methods: 102 patients with CPP included. 53 of them had family history of CPP in the first and/or second-degree relatives. MKRN3 gene was analyzed by next-generation sequencing.Results: Possible pathogenic variants were found in 2/53 patients with family history of CPP (3.8%) and 1/49 patient without family history (2%). A novel heterozygous c.1A > G (p.Met1Val) mutation, a novel heterozygous c.683_684delCA (p.Ser228*) and a previously reported c.482dupC (Ala162Glyfs*) frameshift variations were detected. The two novel variants are predicted to be pathogenic in silico analyses.Conclusions: In our cohort, possible pathogenic variants in MKRN3 gene were detected in 2.9% of the total cohort, 3.8% of the familial and 2% of the nonfamilial cases, slightly lower than that reported in the literature. Two novel variants detected contribute to the molecular repertoire of MKRN3 defects in CPP. Classical pattern of paternal inheritance has been demonstrated in all three cases. However, the father of the patient 3 did not have history of CPP suggesting that the father inherited this variant from his mother and had phenotype skipping. Therefore, we emphasize that the absence of history of CPP in the father does not exclude the possibility of a MKRN3 mutation.Publication Metadata only Differences due to the variant type in the inheritance pattern of BMP15 gene-related primary ovarian insufficiency: a girl with a homozygous null BMP15 gene variant(2022-09-01) ELTAN, MEHMET; GÜRPINAR TOSUN, BUŞRA; GÜRAN, TÜLAY; DEMİRCİOĞLU, SERAP; BEREKET, ABDULLAH; Abali Z. Y. , Ates E. A. , ELTAN M., GÜRPINAR TOSUN B., BEREKET A., GÜRAN T., DEMİRCİOĞLU S.Publication Metadata only Wide phenotypical spectrum with the same karyotype: Mixed gonadal dysgenesis(2022-09-01) SEVEN MENEVŞE, TUBA; GÜRPINAR TOSUN, BUŞRA; DEMİRCİOĞLU, SERAP; GÜRAN, TÜLAY; BEREKET, ABDULLAH; SEVEN MENEVŞE T., GÜRPINAR TOSUN B., Helvacioglu D., Abali Z. Y. , Kirmizibekmez H., Dursun F., DEMİRCİOĞLU S., BEREKET A., GÜRAN T.Publication Metadata only Basal cortisol measurements in the prediction of low-dose ACTH stimulation test outcomes(2022-09-01) GÜRPINAR TOSUN, BUŞRA; HALİLOĞLU, BELMA; DEMİRCİOĞLU, SERAP; GÜRAN, TÜLAY; BEREKET, ABDULLAH; Gacemer H., GÜRPINAR TOSUN B., Abali Z. Y. , Helvacioglu D., HALİLOĞLU B., DEMİRCİOĞLU S., BEREKET A., GÜRAN T.Publication Metadata only Glucagon response to hypoglycemia during extended oral glucose tolerance test in children with cystic fibrosis and comparing with healthy peers(2022-09-01) HALİLOĞLU, BELMA; SEVEN MENEVŞE, TUBA; GÜRPINAR TOSUN, BUŞRA; GÜRAN, TÜLAY; DEMİRCİOĞLU, SERAP; GÖKDEMİR, YASEMİN; ERDEM ERALP, ELA; BEREKET, ABDULLAH; HALİLOĞLU B., SEVEN MENEVŞE T., GÜRPINAR TOSUN B., GÜRAN T., DEMİRCİOĞLU S., Ispir T., GÖKDEMİR Y., ERDEM ERALP E., BEREKET A.