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    11 beta hidroksilaz enzim eksikliğinde yeni bir mutasyon
    (Çocuk Endokrinolojisi ve Diyabet Derneği, 2016) Ünal, Edip; Yıldırım, Ruken; Haspolat, Yusuf Kenan
    Konjenital adrenal hiperplazinin (KAH) en sık görülen ikinci nedenidir (%5-8). Hastalık otozomal resesif geçişlidir. 11 beta hidroksilaz enzim eksikliğinde 17 hidroksiprogesteron da birikir, ancak esas biriken madde kortizol öncülü olan 11-deoksikortizol ve 11-deoksikortikosteron (DOC)'dur.
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    46XY cinsiyet gelişim bozukluğu olan bir olguda tanı zorluğu
    (Çukurova Üniversitesi-Çocuk Endokrinolojisi ve Diyabet Derneği, 2016) Yıldırım, Ruken; Ünal, Edip; Haspolat, Yusuf Kenan
    46XY cinsiyet gelişim bozuklukları (CGB); testis gelişim bozuklukları, androjen sentez veya etkisinde yetersizlik ve diğer (sendromlar, kriptorşidizm, izole hipospadias) nedenler ile meydana gelen bir rahatsızlıktır.
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    49,XXXXY sendromlu bir çocukta konjenital hipotiroidi
    (Çocuk Endokrinolojisi ve Diyabet Derneği, 2017) Ünal, Edip; Yıldırım, Ruken; Taş, Funda Feryal; Haspolat, Yusuf Kenan
    49,XXXXY sendromu nadir görülen seks kromozom anöplöidi durumlarından biridir. Hipogonadizm, mental retardasyon ve radioulnar sinositoz gibi klasik bulgularla birlikte, atipik yüz görünümü, kardiyak patolojiler, kognitif fonksiyonlarda bozulma ve öğrenme problemleri sık görülmektedir.
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    Adölesan obezlerde kan lipid profilinin karotis intima media kalınlığına etkisi
    (Dicle Üniversitesi Tıp Fakültesi, 2022) Tekin, Suat; Pirinççioğlu, Ayfer Gözü; Ünal, Edip; Akın, Alper; Türe, Mehmet
    Giriş: Çocukluk ve adölesan dönem obezitesi erişkin dönem obezite riskini arttırmaktadır. Bu da aterosklerotik hastalık riski oluşturmaktadır. Karotis intima media kalınlığı (KIMK) ölçümleri erken, preklinik aterosklerozun tespiti için kullanılan yeni belirteçlerdendir. Son çalışmalar, ailesel hiperkolesterolemi ve ciddi obezitesi olan çocuklarda KIMK’nın artmış olduğunu göstermektedir. Amaç: Bu çalışmamızın amacı obezitesi olan adölesanlarda kan lipid profili ve KIMK arasındaki ilişkinin incelenmesi ve KIMK’nın preklinik ateroskleroz belirteci olarak kullanılabilirliğini değerlendirmektir. Yöntemler: Çalışmaya yaşları 10-20 arasında değişen ve vücut kitle indeksi (VKİ) yaşa ve cinse göre 95. persentilin üzerinde olan 108 obez hasta çalışma grubu, VKİ 85. persentilin altında olan 101 sağlıklı birey kontrol grubu olarak alındı. Çalışma grubundan en az 12 saatlik açlık sonrası kan glikozu, lipid profili (trigliserit, LDL, VLDL, HDL, total kolesterol) tespiti için kan örneği alındı. Çalışmaya alınan hastaların KIMK değerleri ekokardiyografi cihazı ile ölçüldü. Bulgular: Kontrol grubu ile kıyaslandığında çalışma grubunda KIMK ve VKİ daha yüksek tespit edildi. Gruplar kan lipid profili yönünden kıyaslandığında trigliserit, LDL ve total kolesterol düzeyleri obez grupta daha yüksek, HDL düzeyi daha düşük tespit edildi. Obez grupta kan lipid profili ile KIMK arasında istatiksel olarak anlamlı bir ilişki saptanmadı. Sonuç: Çalışmamızda adölesan obezlerde KIMK normal popülasyona göre artmış saptandı. Ancak lipid profili ile KIMK arasında herhangi bir ilişki saptanmadı. Bu nedenle obez adölesanlarda aterosklerozun erken belirlenmesi ve buna yönelik tedbirlerin alınması açısından kan lipid profili normal olsa bile KIMK ölçümünü önermekteyiz.
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    ALP geninde yeni bir mutasyon saptanan bir odontohipofosfatazya olgusu
    (2019) Taş, Funda Feryal; Ünal, Edip; Beştaş, Aslı; Karakaya, Amine Aktar; Haspolat, Yusuf Kenan
    ALP geninde yeni bir mutasyon saptanan bir odontohipofosfatazya olgusu hakkında konferans bildirisi.
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    Are thyroid functions affected in children diagnosed with COVID-19?
    (MediHealth Academy Yayıncılık, 2021) Yılmaz, Kamil; Ünal, Edip
    Introduction: In December 2019, a novel type of coronavirus infection (SARS-CoV-2) emerged in China and started to spread rapidly. It is unclear whether the thyroid gland is affected in patients with COVID-19. We aimed to investigate the changes in thyroid function in pediatric patients with COVID-19. Material and Method: This study enrolled 79 patients aged 0-18 years with confirmed COVID-19 and the control group consisted of 57 healthy children. All patients thyroid function tests and acute phase reactants were studied. Results: The median age was 132 months in the patient group and 108 months in the control group. TSH level was lower in the COVID-19 patients compared to the controls although the difference did not statistical significance (p=0.051). Free T3 level was significantly lower in the patient group compared to the control group (p<0.001). All patients with COVID-19 had normal TSH levels and fT3 was lower in 7 (8.8%) of 79 patients. Correlation analysis showed a negative correlation between fT3 level and CRP, procalcitonin levels. No significant correlation was found between disease severity and thyroid hormone levels. Conclusion: as far as we know, our study is the first to evaluate thyroid functions in children with COVID-19. As in many other severe disease states, ESS may develop in COVID-19. It can be concluded that the pituitary-thyroid axis is not severely affected in pediatric patients COVID-19, especially in those with asymptomatic or mildly symptomatic disease. It should be remembered that the disease course may be more severe particularly in patients who develop ESS.
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    Aromatase deficiency due to a novel mutation in CYP19A1 gene
    (Galenos Yayınevi, 2018) Ünal, Edip; Yıldırım, Ruken; Taş, Funda Feryal; Demir, Vasfiye; Onay, Hüseyin; Haspolat, Yusuf Kenan
    Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during pregnancy due to increased concentration of androgens. A 19 months old girl patient was assessed due to presence of ambiguous genitalia. There were findings of maternal virilization during pregnancy. The karyotype was 46,XX. Congenital adrenal hyperplasia was not considered since adrenocorticotropic hormone, cortisol, and 17-hydroxyprogesterone levels were within normal ranges. At age two months, follicle-stimulating hormone and total testosterone levels were elevated and estradiol level was low. Based on these findings, aromatase deficiency was suspected. A novel homozygous mutation IVS7-2A>G (c.744-2A>G) was identified in the CYP19A1 gene. Pelvic ultrasound showed hypoplasic ovaries rather than large and cystic ovaries. We identified a novel mutation in the CYP19A1 gene in a patient who presented with ambiguous genitalia and maternal virilization during pregnancy. Presence of large and cystic ovaries is not essential in aromatase deficiency.
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    Association of Subclinical Hypothyroidism with Dyslipidemia and Increased Carotid Intima-Media Thickness in Children
    (2017) Demir, Vasfiye; Yıldırım, Ruken; Haspolat, Yusuf Kenan; Yıldız, İsmail; Akın, Alper; Ünal, Edip
    Objective: Subclinical hypothyroidism (SH) is defined as an elevated serum thyroid-stimulating hormone (TSH) level with free thyroxine (fT4) level in the normal range. There are very few studies in the literature reporting on the effect of SH on lipid metabolism and carotid intima-media thickness (CIMT) in children.Methods: The study included 38 children diagnosed with SH and a control group comprising 38 healthy, euthyroid children. SH was diagnosed based on an elevated TSH level (4.2-20 mIU/L) and normal fT4 level measured in two morning fasting blood samples obtained at an interval of 2 to 6 weeks. Blood samples were collected by venipuncture in the morning after an overnight fast.Results: The patient group included 38 children (16 male, 22 female) with SH and the control group -38 healthy, euthyroid children (20 male, 18 female). Mean age was 8.1±3.6 years in the patient group and 8.9±2.4 years in the control group. In the patient group, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), TC/high-density lipoprotein cholesterol (HDL-C), and LDL-C/HDL-C were higher compared to the control group (p=0.049, p=0.014, p=0.002, and 0.003, respectively). In the patient group, CIMT was also significantly higher compared to the control group (p=0.001). The patient group was further divided into two subgroups based on their serum TSH level: (I) patients with mildly elevated TSH (TSH=4.2±10 mIU/L) (n=33) and (II) patients with high TSH (TSH>=10 mIU/L) (n=5). However, no significant difference was found between the patients with mild and severe SH with regard to TC, LDL-C, HDL-C, triglyceride level and CIMT levels (p=0.635, p=0.424, p=0.310, p=0.342, and 0.610, respectively).Conclusion: Subclinical hypothyroidism leads to increased dyslipidemia (increased TC and LDL) and increased CIMT, which leads to increased risk of cardiovascular disease. Further studies are needed to substantiate these findings in children with SH.
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    Association of subclinical hypothyroidism with dyslipidemia and increased carotid intima-media thickness in children
    (Galenos Yayınevi, 2017) Ünal, Edip; Akın, Alper; Yıldırım, Ruken; Demir, Vasfiye; Yıldız, İsmail; Haspolat, Yusuf Kenan
    Objective: Subclinical hypothyroidism (SH) is defined as an elevated serum thyroid-stimulating hormone (TSH) level with free thyroxine (fT4) level in the normal range. There are very few studies in the literature reporting on the effect of SH on lipid metabolism and carotid intima-media thickness (CIMT) in children. Methods: The study included 38 children diagnosed with SH and a control group comprising 38 healthy, euthyroid children. SH was diagnosed based on an elevated TSH level (4.2-20 mIU/L) and normal fT4 level measured in two morning fasting blood samples obtained at an interval of 2 to 6 weeks. Blood samples were collected by venipuncture in the morning after an overnight fast. Results: The patient group included 38 children (16 male, 22 female) with SH and the control group -38 healthy, euthyroid children (20 male, 18 female). Mean age was 8.1±3.6 (range, 3.5-15) years in the patient group and 8.9±2.4 (range, 4.5-15) years in the control group. In the patient group, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), TC/high-density lipoprotein cholesterol (HDL-C), and LDL-C/HDL-C were higher compared to the control group (p=0.049, p=0.014, p=0.002, and 0.003, respectively). In the patient group, CIMT was also significantly higher compared to the control group (p=0.001). The patient group was further divided into two subgroups based on their serum TSH level: (I) patients with mildly elevated TSH (TSH=4.2±10 mIU/L) (n=33) and (II) patients with high TSH (TSH≥10 mIU/L) (n=5). However, no significant difference was found between the patients with mild and severe SH with regard to TC, LDL-C, HDL-C, triglyceride level and CIMT levels (p=0.635, p=0.424, p=0.310, p=0.342, and 0.610, respectively). Conclusion: Subclinical hypothyroidism leads to increased dyslipidemia (increased TC and LDL) and increased CIMT, which leads to increased risk of cardiovascular disease. Further studies are needed to substantiate these findings in children with SH.
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    Bilateral inmemiş testis nedeniyle başvuran olguda 11 beta hidroksilaz enzim eksikliği
    (Çocuk Endokrinolojisi ve Diyabet Derneği, 2018) Ünal, Edip; Taş, Funda Feryal; Yıldırım, Ruken; Haspolat, Yusuf Kenan
    Konjenital adrenal hiperplazi (KAH) kortizol sentezi için gerekli olan enzimlerden birinin eksikliği sonucu ortaya çıkan ve otozomal resesif kalıtılan bir grup hastalıktır.
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    Boy kısalığı ile başvuran noonan sendromlu bir olgu
    (Türkiye Klinikleri, 2016) Ünal, Edip; Yıldırım, Ruken; Erten, Özlem; Çim, Abdullah; Haspolat, Yusuf Kenan
    Noonan sendromu (NS); boy kısalığı, konjenital kalp defektleri, iskelet anomalileri ve yeleboyun ile karakterize genetik bir hastalıktır. Ayrıca kanama diyatezi, ekdodermal anomaliler, len-fatik displazi, inmemiş testis ve kognitif fonksiyonlarda bozulma gibi birçok sistemi de etkilediği bi-linmektedir. Bu çalışmada NS tanısı konulan ve büyüme hormon tedavisi başlanan bir olgusunulmuştur.
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    Boy kısalığı ile tanı alan Ellis Van Creveld sendromlu bir olgu
    (Çocuk Endokrinolojisi ve Diyabet Derneği, 2017) Yıldırım, Ruken; Ünal, Edip; Başak, Emrah; Haspolat, Yusuf Kenan
    Kondroektodermal displazi olan Ellis Van Creveld (EVC) sendromu otozomal resesif geçişli nadir bir hastalıktır. Sıklığı 7/1.000.000 ve her iki cinsiyette eşit oranda görülür. Hastalıktan sorumlu genin 4p16 kromozomunda lokalize olan EVC geni olduğu tespit edilmiştir. Uzun kemiklerde ve kostalarda kısalık, orantısız boy kısalığı, tırnak ve diş hipoplazileri, polidaktili, konjenital kalp hastalıkları ve gingiva hipertrofisi görülür.
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    The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey
    (Springer, 2023) Yıldırım, Ruken; Ünal, Edip; Ünal, Aysel Tekmenuray; Taş, Funda Feryal; Özalkak, Şervan; Çayır, Atilla; Özbek, Mehmet Nuri
    Aim: Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia, and alacrimia. This disorder is caused by mutations in the AAAS gene. The aim of this study is to discuss the clinical, laboratory and molecular genetic analysis results of 12 patients with TAS. Method: We evaluated 12 patients from 8 families. Clinical and laboratory data were retrospectively collected from the medical records of the patients in the database for the period 2015–2020. All exons and exon-intron junctions of the AAAS gene were evaluated by next-generation sequencing method. Detected variants were classified according to American Collage of Medical Genetics criteria. Results: Alacrimia was found in all patients (100%); achalasia was found in 10 patients (83.3%) and adrenal insufficiency was found in 10 patients (83.3%). In addition, hyperreflexia(6/12), learning disability(5/12), hypernasal speech(5/12), muscle weakness(8/12), delayed walking(7/12), delayed speech(6/12), excessive sweating(7/12), optic atrophy(1/12), epilepsy(1/12), palmoplantar hyperkeratosis(5/12), multiple dental caries(9/12), atrophy of the thenar/hypothenar muscles(4/12) and short stature(4/12) were detected. The DHEA-S levels were measured in 10 patients and were found to be low in 8 of them. In all patients, the sodium and potassium levels were found to be normal. AAAS gene sequencing revealed four previously reported c.1066_1067del (p.Leu356fs*8), c.1432 C > T (p.Arg478*), c.688 C > T (p.Arg230*), and c.1368_1372del (p.Gln456fs*38) variants and two novel homozygous c.1250-1 G > A and c.398_399 + 2del variants in the AAAS gene. Conclusion: We detected two novel variants in the AAAS gene. While the classic triad is present in 66.7% of the cases, neurological dysfunction, skin and dental pathologies also occur quite frequently. The earliest and most common finding of TAS is alacrimia. Therefore, adrenal insufficiency should be investigated in all patients with alacrimia and if necessary, genetic analysis should be performed for TAS. In addition, TAS should be followed up with a multidisciplinary approach since it involves many systems.
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    Clinical variability in a family with noonan syndrome with a homozygous PTPN11 gene variant in two individuals
    (Galenos Publ House, 2024) Yıldırım, Ruken; Ünal, Edip; Özalkak, Şervan; Akalın, Akçahan; Aykut, Ayça; Yılmaz, Nevzat
    Objective: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 (PTPN11) gene. The aim of this study was to evaluate two patients with a previously reported PTPN11 homozygous variant for the first time and seven other kindred members carrying the same heterozygous variant in terms of clinical, biochemical, genetic, and response to treatment. Methods: Nine patients diagnosed with NS due to the same variants in the PTPN11 gene were included in the study. Results: The median (range) age at diagnosis was 11.5 (6.8-13.9) years and the mean follow-up duration was 4.7 (1-7.6) years. In eight patients (88.9%), short stature was present. The height standard deviation score of the patients on admission was -3.24 +/- 1.15. In six of the patients, growth hormone treatment was initiated. Cardiovascular or bleeding disorders were not detected in any of the patients. Three (33.3%) had hearing loss, two (22.2%) had ocular findings and one (11.1%) had a horseshoe kidney. The mean psychomotor development performance score was 84.03 +/- 17.09 and the verbal score was 82.88 +/- 9.42. Genetic analysis revealed a variant in the PTPN11 gene [c.772G>A; (p.Glu258Lys)] that had been previously described and was detected in all patients. Two patients were homozygous for this variant and short stature was more severe in these two. Conclusion: A previously described in PTPN11 affected nine members of the same kindred, two with homozygous inheritance and the remainder being heterozygous. To the best of our knowledge, these are the first homozygous PTPN11 case reports published, coming from two related consanguineous families.
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    A different perspective of elevated lactace in pediatric patients with diabetic ketoacidosis
    (Romanian Academy, 2020) Ünal, Edip; Pirinççioğlu, Ayfer Gözü; Yanmaz, Sercan Yücel; Yılmaz, Kamil; Taşkesen, Mustafa; Haspolat, Yusuf Kenan
    Objective: This study aims to determine the frequency and prognostic significance of lactic acidosis in children with diabetic ketoacidosis (DKA) admitted to the pediatric intensive care unit. Methods: The study was carried out retrospectively by examining the patients admitted to the pediatric intensive care unit for the treatment of DKA. The ages of the patients ranged from 2 to 18 years. The patients with the following parameters were enrolled in the study: serum blood glucose>200 mg/dL, ketonuria presence, venous blood gas pH ≤7.1, bicarbonate <15. Results: A total of 56 patients were included in the study with a mean age of 111.07 ± 51.13 months. The recovery time from DKA was 16.05 ± 6.25 h in the group with low lactate level and it was 13.57 ± 8.34 h in the group with high lactate level with no statistically significant difference. There was a negative correlation between lactate levels and the recovery time from DKA. Conclusion: Lactic acidosis is common in DKA, and unlike other conditions, such as sepsis, it is not always a finding of poor prognosis that predicts the severity of the disease or mortality. We think that high lactate may even protect against possible brain edema-cerebral damage in DKA.
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    Does subclinical hypothyroidism affect lipid and epicardial fat tissue thickness in children?
    (Medcom, 2021) Ünal, Edip; Akın, Alper; Yıldırım, Ruken; Türe, Mehmet; Balık, Hasan; Taş, Funda Feryal; Pirinççioğlu, Ayfer Gözü; Haspolat, Yusuf Kenan
    Objective: The aim of this study was to measure serum lipid levels and epicardial adipose tissue thickness in patients determined with subclinical hypothyroidism. Methods: The study included 61 paediatric patients with a diagnosis of subclinical hypothyroidism and a control group of 61 healthy children. The thyroid hormone levels, lipid parameters and epicardial adipose tissue thickness were examined in all the patients. Results: The mean epicardial adipose tissue thickness of the subclinical hypothyroidism patients was higher than that of the control group but not at a level of statistical significance (4.15±0.91 vs 4.06±0.99, p=0.598). The mean high-density lipoprotein cholesterol level of the subclinical hypothyroidism group was statistically lower than that of the control group (p=0.040). Conclusion: The results of this study showed a significant decrease in the high-density lipoprotein cholesterol levels of children with subclinical hypothyroidism. No significant increase was seen in the epicardial adipose tissue thickness of the children with subclinical hypothyroidism. This is the first study to have examined epicardial adipose tissue thickness in children with subclinical hypothyroidism.
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    Down sendromlu hastalarda tiroid fonksiyonlarının değerlendirilmesi
    (Fırat Üniversitesi Tıp Fakültesi, 2023) Karakaya, Amine Aktar; Ünal, Edip; Beştaş, Aslı; Haspolat, Yusuf Kenan
    Amaç: Down sendromu en sık görülen kromozomal anomalidir. Bu bireylerde tiroid fonksiyon bozuklukları sık görülmektedir. Bu çalışmada, hasta- nemiz çocuk endokrinolojisi polikliniğine Down sendromu tanısı ile başvuran hastaların tiroid fonksiyon testlerinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Aralık 2018-Şubat 2020 tarihleri arasında Çocuk Endokrinoloji polikliniğine başvuran Down sendromlu toplam 79 olgunun verileri retrospektif olarak değerlendirildi. Hasta dosyalarından tiroid uyarıcı hormon (TSH), serbest tiroksin (fT4), anti-tiroid peroksidaz (anti-TPO), anti-tiroglobülin (anti-Tg) bakılıp bakılmadığı kaydedildi. TSH ve fT4 düzeyi normal olan hastalar ötiroidi, TSH yüksek ve fT4 düşük olan hastalar aşikar hipotiroidi, TSH yüksek ve fT4 normal olan hastalar ise subklinik hipotiroidi olarak tanımlandı. Hashimoto tiroiditi (HT) tanısı ise tiroid otoan- tikorlarının (anti-TPO ve/veya anti-Tg) pozitifliği ile konuldu. Bulgular: Çalışmaya 42’si (%53,2) erkek, 37’si (%46,8) kız olmak üzere toplam 79 hasta alındı. Hastaların ortanca yaşı 5,16 (1,58-9,41) yıl idi. Çalışmaya dahil edilen 79 olgunun 16’sında (%20,2) aşikar hipotroidi, 28’inde (%35,5) subklinik hipotroidi, 35’inde (%44,3) ötiroidizm saptandı. 79 hastanın 52’ine anti-TPO ve/veya anti-Tg bakılmıştı. Bu hastaların 9’unda (%17,3) tiroid otoantikorları pozitif idi. Sonuç: Down sendromlu çocuklarda tiroid fonksiyon bozukluğu özellikle subklinik hipotroidi sık görülmektedir. Bu nedenle bu hastalara belli aralık- larla tiroid fonksiyon testlerinin bakılması uygun olacaktır.
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    Evaluation of clinical and laboratory findings in the differential diagnosis of central precocious puberty and premature thelarche
    (Wolters Kluwer Medknow Publications, 2023) Beştaş, Aslı; Ünal, Edip; Demiral, Meliha; Karakaya, Amine Aktar; Haspolat, Yusuf K.
    In this study, it was aimed to examine the clinical and laboratory findings that can be used to predict central precocious puberty (CPP) in cases whose breast development started before the age of 8. Materials and Methods: The chronological age, anthropometric measurements, bone age (BA), hormone test results and pelvic ultrasonography findings of the cases were recorded. Those with a peak luteinizing hormone (LH) level of ≥5 IU/L in the gonadotropin‑releasing hormone (GnRH) stimulation test were classified as CPP and those with a peak LH level of <5 IU/L were classified as prepubertal cases. A receiver operating characteristic (ROC) analysis was performed to determine the diagnostic accuracy of laboratory variables. Findings: A total of 297 female cases were included in the study. The age at the time of admission, height‑standard deviation score (SDS), BA, the long axis of the uterus and the volumes of the right and left ovaries of the cases diagnosed with CPP were found to be significantly higher than those of the prepubertal group. The cut‑off value providing the best sensitivity (99%) and specificity (99%) for the peak LH was found to be 4.55; the cut‑off value providing the best sensitivity (94%) and specificity (85%) for the peak LH/follicle‑stimulating hormone (FSH) ratio was found to be 0.32 and the cut‑off value providing the best sensitivity (47%) and specificity (93%) for the basal LH was found to be 0.13. Conclusion: We believe that in female cases with early breast development, a peak LH level of ≥4.55 may possibly indicate CPP and a basal LH level of <0.13 can significantly rule out CPP.
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    Evaluation of QT dispersion and Tp-e interval in children with subclinical hypothyroidism
    (Wiley, 2018) Akın, Alper; Ünal, Edip; Yıldırım, Ruken; Türe, Mehmet; Balık, Hasan; Haspolat, Yusuf Kenan
    Background: Studies on adults have shown increased dispersion of QT and corrected QT (QTc), peak-to-end interval of the T wave (Tp-e), Tp-e/QT ratio, and Tp-e/QTc ratio in subclinical hypothyroidism (SH), but there have been no pediatric studies. Materials and methods: A total of 40 SH patients were compared with 40 healthy children in respect to serum thyroid-stimulating hormone (TSH), serum-free level of triiodothyronine, and free level of thyroxine (fT4). SH diagnosis was accepted as TSH above the laboratory accepted upper limit (>4.2 mU/L) and normal fT4 values. The patient and control group data were compared by calculating the QT interval, QTc, QT dispersion (QTd), QTc dispersion (QTcd), Tp-e, Tp-e/QT ratio, and Tp-e/QTc ratio on 12-lead surface electrocardiogram. Results: The mean age was 7.91 ± 3.6 years in the SH group and 8.8 ± 2.4 years in the control group. In the SH group, the minimum QT (QTmin) was determined to be statistically significantly lower (P < 0.001) and maximum QT (QTmax), QTd, QTcd, Tp-e, Tp-e/QT ratio, and Tp-e/QTc ratio were statistically significantly higher (P = 0.028, P < 0.001, P = 0.003, P < 0.001, P = 0.001, P < 0.001, respectively). A positive correlation was determined between TSH and QTmax (r: +0.331, P = 0.037). Conclusions: The current study is the first to have shown significantly increased QTd, QTcd, Tp-e, Tp-e/QT ratio, and Tp-e/QTc ratio in children diagnosed with SH. A positive correlation was determined between TSH and maximum QT values, Tp-e, Tp-e/QT ratio, and Tp-e/QTc ratio. These results suggest the need to further assess the long-term risks of prolonged QT dispersion in the setting of subclinical hypothyroidism.
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    GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome
    (Oxford University Press, 2017) Campos, Adrian Palencia; Ullah, Asmat; Nevado, Julian; Yıldırım, Ruken; Ünal, Edip; Ciorraga, Maria; Barruz, Pilar; Chico, Lucia
    GLI1, GLI2 and GLI3 form a family of transcription factors which regulate development by mediating the action of Hedgehog (Hh) morphogens. Accordingly, inactivating variants in GLI2 and GLI3 are found in several developmental disorders. In contrast, loss-of-function mutations in GLI1 have remained elusive, maintaining enigmatic the role of this gene in the human embryo. We describe eight patients from three independent families having biallelic truncating variants in GLI1 and developmental defects overlapping with Ellis-van Creveld syndrome (EvC), a disease caused by diminished Hh signaling. Two families had mutations in the last exon of the gene and a third family was identified with an N-terminal stop gain variant predicted to be degraded by the NMD-pathway. Analysis of fibroblasts from one of the patients with homozygous C-terminal truncation of GLI1 demonstrated that the corresponding mutant GLI1 protein is fabricated by patient cells and becomes upregulated in response to Hh signaling. However, the transcriptional activity of the truncated GLI1 factor was found to be severely impaired by cell culture and in vivo assays, indicating that the balance between GLI repressors and activators is altered in affected subjects. Consistent with this, reduced expression of the GLI target PTCH1 was observed in patient fibroblasts after chemical induction of the Hh pathway.We conclude that GLI1 inactivation is associated with a phenotypic spectrum extending from isolated postaxial polydactyly to an EvC-like condition.