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KUTLU, ESRA

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    PublicationOpen Access
    Pseudohypoparathyroidism Type Ia with Normocalcemia
    (2019-04-01T00:00:00Z) Kutlu, Esra; CESUR, Yaşar; ÖZGEN, İLKER TOLGA; Yesil, Gozde; KUTLU, ESRA; ÖZGEN, İLKER TOLGA; CESUR, YAŞAR; YEŞİL, GÖZDE
    Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms and additional hormonal resistance can be observed in type Ia, which is also known as Albright hereditary osteodystrophy. Our patient was an eight-year and nine-month old girl with typical Albright-s hereditary osteodystrophy phenotype including short stature, obesity, round face, low nasal bridge, shortened metacarpals, and mild mental retardation. In her biochemical examination, high PTH level and hypothyroidism is detected in spite of normal calcium and phosphor levels. As a result of clinic and laboratory tests, the findings were consistent with PHP type Ia with normocalcemia. In her guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 (GNAS 1) gene serial analysis, C-308T>C (p1103T) transformation was detected, which was previously reported in a PHP type Ia patient. In this report, we-ve aimed to emphasize the fact that calcium and phosphor level in the blood of the patient with PHP type Ia can be measured normal.
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    The Relationship Between Precocious Puberty and Premature Thelarche with Serum Irisin Levels
    (2019-09-01T00:00:00Z) Özgen, İlker Tolga; Kutlu, Esra; Bulut, Huri; Temur, Hafize Otcu; Torun, Emel; Cesur, Yaşar; KUTLU, ESRA; ÖZGEN, İLKER TOLGA; BULUT, HURI; TORUN, EMEL; CESUR, YAŞAR
    https://www.karger.com/?DOI=10.1159/000495021
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    PublicationOpen Access
    A Case with Laron Syndrome
    (2019-07-01T00:00:00Z) ÖZGEN, İLKER TOLGA; CESUR, Yaşar; Kutlu, Esra; Yesil, Gozde; ÖZGEN, İLKER TOLGA; KUTLU, ESRA; CESUR, YAŞAR; YEŞİL, GÖZDE
    Laron syndrome (LS) is a rare disorder leading to short stature as a result of growth hormone (GH) insensitivity. It is caused by mutations in GH receptor gene and characterized by post-natal growth retardation, craniofacial abnormalities, high serum GH and low insulin-like growth factor-1 (IGF-I) levels. Several different genetic mutations have been documented up to date. In this article, a patient with LS is reported.