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Öğe ALP geninde yeni bir mutasyon saptanan bir odontohipofosfatazya olgusu(2019) Taş, Funda Feryal; Ünal, Edip; Beştaş, Aslı; Karakaya, Amine Aktar; Haspolat, Yusuf KenanALP geninde yeni bir mutasyon saptanan bir odontohipofosfatazya olgusu hakkında konferans bildirisi.Öğe Amiodaron ilişkili hipertroidi gelişen hastada takip ve tedavi(Çocuk Endokrinolojisi ve Diyabet Derneği, 2020) Karakaya, Amine Aktar; Beştaş, Aslı; Taş, Funda Feryal; Haspolat, Yusuf KenanAmiodaron ilişkili hipertiroidi (AIH) amiodaron kullanan hastaların yaklaşık %7-15'ini etkiler. Aşırı iyot yüklenmesi veya doğrudan sitotoksisite yaparak tiroid fonksiyon bozukluğu yapar. Amiodaron uzun yarı ömür ve yağ dokusunda depolanma özelliği nedeniyle bu etkisini ilaç kesiminden aylar sonra bile gösterebilir.Öğe Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey(Springer, 2024) Akalın, Akçahan; Özalkak, Şervan; Yıldırım, Ruken; Karakaya, Amine Aktar; Kolbaşı, Barış; Durmuşalioğlu, Enise Avcı; Kökali, Funda3 M syndrome is a well-known autosomal recessive skeletal genetic disorder caused by biallelic pathogenic variants in the CUL7, OBSL1, and CCDC8 genes. Affected individuals exhibit profound pre- and postnatal growth retardation, distinctive facial features with normal intelligence. This study aims to provide insight into the comprehensive evaluation of clinical, laboratory, and radiological findings, expand the mutational spectrum of the disease, and establish a genotype-phenotype correlation in the present cases. A total of 25 patients from 19 unrelated families were included in the study. Genetic etiology was determined in probands through the utilization of Sanger sequencing and/or targeted gene panel analysis. The clinical, laboratory, and genetic features of all patients at admission and during follow-up were documented. Genotype-phenotype correlation was carried out in the CUL7 and OBSL1 groups. The genetic etiology was established in all patients (n = 25/25, 100%). We identified 15 distinct variants in CUL7, OBSL1, and CCDC8 genes, with eleven being novel. CUL7 variants were present in 13 patients (n = 13/25, 52%), while OBSL1 variants were found in 11 patients (n = 11/25, 44%). No notable distinctions were found in mean birth weight, height, and standard deviation scores between the CUL7 and OBSL1 mutation groups (p > 0.05). Patients with CUL7 variants exhibited significantly lower height standard deviation scores both at admission and at the last examination, as well as lower weight standard deviation scores at the last examination, compared to those with OBSL1 variants (p < 0.05). Conclusion: To date, genotype-phenotype correlations have been identified in a limited number of studies. Further research involving larger cohorts is necessary to solidify these correlations.Öğe Down sendromlu hastalarda tiroid fonksiyonlarının değerlendirilmesi(Fırat Üniversitesi Tıp Fakültesi, 2023) Karakaya, Amine Aktar; Ünal, Edip; Beştaş, Aslı; Haspolat, Yusuf KenanAmaç: 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.Öğe 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.Öğe Evaluation of Oral Glucose Tolerance Test Results in Children with Cystic Fibrosis(Kare Publ, 2024) Bestas, Asli; Unal, Edip; Karakaya, Amine Aktar; Beyazit, Nurcan; Savas, Suat; Sen, VelatObjectives: Current guidelines suggest that patients with cystic fibrosis (CF), who are over the age of 10, should be annually evaluated with oral glucose tolerance test (OGTT). In this study, it was aimed to evaluate the OGTT results in patients above the age of 10, who were followed up in our center with the diagnosis of CF. Methods: In the study, 46 patients with CF at the age of 10 and above, who underwent OGTT were included. Data such as gender, age at diagnosis, anthropometric measurements, lung function (FEV1 %) and the OGTT results were obtained. In the analysis, the patient groups with normal glucose tolerance (NGT) and abnormal glucose tolerance(AGT) were compared. Results: NGT was found in 37(80.4%) of the patients, and AGT was found in 9(19.5%) of the patients. The median fasting glucose levels of the patients in the NGT group and the mean glucose levels measured at 120 minutes in the OGTT were found to be lower compared to the patients in the AGT group(p<0.005). Although the mean body weight, height, VK & Idot;-SDS, FEV1in the AGT group were found to be lower than the patients in the NGT group, the difference was not statistically significant (p>0.05). Conclusion: We detected AGT in approximately 1 out of 5 patients with CF who were at the age of 10 and above. Almost half (44.4%) of the patients with AGT were found to have normal fasting blood glucose levels. Therefore, cystic fibrosis-related diabetes screening should be performed with OGTT instead of fasting blood glucose in patients with CF.Öğe Final Height in GnRH Analogue Treatment in Girls Diagnosed with Early Puberty: Comparison with Untreated Controls(Galenos Publ House, 2022) Karakaya, Amine Aktar; Unal, Edip; Bestas, Asli; Yildirim, RukenIntroduction: In this retrospective study, it was aimed to examine the effect of gonadotropin-releasing hormone (GnRH) analogue treatment on final height in girls diagnosed with early puberty (EP) between the ages of 8 and 10. Materials and Methods: In the study, 87 girls who were diagnosed with EP and reached the final height were included. Two groups, those who received GnRH analogue treatment and those who did not, were formed. The average age, bone age, average height, height standard deviation score (SDS), body mass index SDS, target height, predicted adult height of the groups at the time of admission were calculated. The final height they reached and their menarche ages were noted. Results: No difference was found between the groups in terms of average age, average height, height SDS, bone age, body mass index SDS at the time of admission. The target height, predicted adult height, final height and the SDS of these were similar in both groups. All cases in both groups reached the target height. Conclusion: It was determined that the GnRH analogue treatment did not make a positive contribution to the final height in the EP group, who were between the ages of 8 and 10. Therefore, it can be recommended to use GnRHa treatment in EP patients with psychosocial problems and for delaying menarche.Öğe Hipertiroidinin nadir bir nedeni TSH reseptör gen mutasyonu(Çocuk Endokrinolojisi ve Diyabet Derneği-İstanbul Üniversitesi Tıp Fakültesi-İnönü Üniversitesi Çocuk Sağlığı Enstitüsü, 2019) Taş, Funda Feryal; Ünal, Edip; Karakaya, Amine Aktar; Beştaş, Aslı; Haspolat, Yusuf KenanKalıtsal toksik tiroid hiperplazi (non-otoimmün hipertroidizm) otozomal dominant geçiş gösteren bir hastalıktır. 14 kromozom uzun kolunda yer alan TSH reseptör geninde aktive edici mutasyon sonucu gelişir. TSHR'ün TSH dan bağımsız sürekli aktivasyonu söz konusudur.Öğe Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families(Springer, 2021) Ünal, Edip; Karakaya, Amine Aktar; Beştaş, Aslı; Yıldırım, Ruken; Taş, Funda Feryal; Onay, Hüseyin; Özkınay, Ferda; Haspolat, Yusuf KenanPurpose: Persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian structures in male with normal phenotype. Most cases occur as a result of mutations in the anti-Müllerian hormone (AMH) or AMHR2 genes. In this study, we aim to discuss the results of clinical, laboratory, and molecular genetic analysis of cases detected to have AMHR2 gene mutation. Methods: A total of 11 cases from 6 families were included in the study. AMHR2 gene mutation analyses were performed by sequencing of the coding exons and the exon-intron boundaries of the genes. The American College of Medical Genetics guidelines were used for the classification of the detected variants. Results: Six of the 11 cases were admitted due to bilateral undescended testes and five cases due to inguinal hernia (three transverse testicular ectopia and two hernia uterus inguinalis). All cases had normal AMH levels. Seven different variants were identified in the six families. The variants detected in four cases were considered novel (c.78del, c.71G > A, c.1460dup, c.1319A > G). Two of the novel variants were missense (exon 2 and exon 10) mutations, one was deletion (exon 2), and one duplication (exon 11). Conclusion: We identified four novel mutations in the AMHR2 gene resulting in PMDS. Duplication mutation (c.1460dup) in the AMHR2 gene causing PMDS was demonstrated for the first time. The most important complications of PMDS are infertility and malignancy. Early diagnosis is vital to preventing malignancy. Vas deferens and vascular structures may be injured during orchiopexy. Therefore, patients should always be referred to experienced clinics.Öğe Is Cranial Imaging Necessary in Girls Between 6-8 Years Diagnosed with Central Precocious Puberty?(Edizioni Minerva Medica, 2021) Bestas, Asli; Unal, Edip; Karakaya, Amine Aktar; Haspolat, Yusuf KenanAim: There is no clear consensus on whether a cranial MRI should be performed in all cases of central precocious puberty(CPP). In this study, we aimed at evaluating the incidence of intracranial lesions and analyzing cranial imaging results in females with CPP Methods: In the retrospective study medical records of the case, the age at the time of admission, anthropometric measurements, bone age, Tanner stages, serum follicle-stimulating hormone (FSH), serum luteinizing hormone(LH), serum estradiol (E2) levels, the peak LH level during the gonadotropin-releasing hormone (GnRH) stimulation test and the cranial MRI findings at the time of the diagnosis of CPP were collected. Results: The mean age diagnosis of the 154 girls included in the study was 6.9 +/- 1.08. Nine (5.8%) of 154 patients were diagnosed with organic-caused CPP. Four of the nine cases diagnosed with organic CPP had a previously known CNS pathology. The other five cases did not have any neurological findings at the time of diagnosis. Incidental lesions were detected at cranial MRI of nine of the 145 cases diagnosed with idiopathic CPP. The basal E2, basal LH, basal FSH, peak LH and peak LH/FSH levels of the cases with organic CPP were higher than those with idiopathic CPP. Conclusion: In our study, approximately 90% of organic CPP due to intracranial lesions were between 6-8 years. Therefore, we believe that cranial imaging should be performed in all females with CPP.Öğe A novel variant in LCHGR gene in 3 siblings with type 1 leydig cell hypoplasia(Taylor & Francis Group, 2020) Karakaya, Amine Aktar; Ünal, Edip; Beştaş, Aslı; Taş, Funda; Onay, Hüseyin; Haspolat, Yusuf KenanIntroduction: Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. The patients with LCH are usually in the female phenotype and are presented with the complaints of no breast development and primary amenorrhea. In this article, the cases of three siblings who presented with primary amenorrhea and who had LCH were presented. Case: A 16-year-old patient with female phenotype is presented with primary amenorrhea. Breast development was at Tanner stage 1, the external genitalia were completely in female phenotype. The karyotype was determined as 46, XY. The hormonal analyses revealed that the testosterone synthesis was insufficient despite the high level of luteinizing hormone (LH). Cortisol, ACTH, 17-Hydroxyprogesterone, and AMH levels were normal. LCH diagnosis was considered in the patient with elevated LH and no testosterone synthesis. A new mutation of homozygous c.161 + 4A > G was detected in LHCGR gene. The same mutation was detected in the patient's two siblings with female phenotype and 46, XY karyotype. Conclusion: In patients presenting with primary amenorrhea and karyotype 46, XY, there is no testosterone synthesis and if there is LH elevation, LCH should be considered. We found a novel variant in the LHCGR gene in three siblings with karyotype 46, XY and female phenotype.Öğe Osteopetroriketsli bir olgu(Çocuk Endokrinolojisi ve Diyabet Derneği, 2020) Beştaş, Aslı; Karakaya, Amine Aktar; Taş, Funda Feryal; Haspolat, Yusuf KenanOsteopetrorikets, infantil dönemde bilgi veren osteoklastik aktivitedeki azalma sonucu gelişen nadir bir genetik hastalıktır. Otozomal ressesif geçer. Kemik yapım ve yıkım arasındaki dengenin bozulması kemikte skleroza ve paradoks olarak kemik dokuda mineralizasyon kaybına neden olur.Öğe A rare cause of delayed puberty and primary amenorrhea: 17 alpha-hydroxylase enzyme deficiency(Springer, 2022) Beştaş, Aslı; Bolu, Semih; Ünal, Edip; Karakaya, Amine Aktar; Eroz, Recep; Tekin, Mehmet; Haspolat, Yusuf KenanAim 17 alpha-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders. In this study, we aimed to present the clinical, laboratory and genetic results of 13 patients from eight different families who were diagnosed with complete 17 alpha-hydroxylase enzyme deficiency. Methods The age, symptoms, anthropometric measurements, blood pressure, Tanner stages, and hormonal and chromosome analysis results at the time of admission were recorded from the medical records of the patients. Whole gene next-generation sequencing of CYP17A1 gene was performed to detect mutations. Multiplex ligation dependent probe amplification (MLPA) method were used to detect deletions in the seven patients who had no point mutation were detected in the CYP17A1 gene. Results The average age of the patients at the time of admission was 14.8 (range: 12.9-16.6) years. Also at this time, all patients were in adolescence and were raised as females. The karyotypes of eight patients were 46,XY, and of five patients were 46,XX. Ten patients presented with delayed puberty and primary amenorrhea, one patient with delayed puberty and hypertension, and two patients with hypertension and/or hypokalemia. Hypertension and hypokalemia were detected in nine and seven patients, respectively. Conclusions P450c17 enzyme deficiency should be considered in patients presenting with delayed puberty or primary amenorrhea in the adolescence period and diagnosed with hypergonadotropic hypogonadism, if hypertension and hypokalemia accompany. Early diagnosis prevents the occurrence of important health problems such as hypertension, psychological problems, and gender identity disorders, which affect the majority of these patients.Öğe A rare cause of primary amenorrhea: LHCGR gene mutations(Elsevier, 2022) Karakaya, Amine Aktar; Cayir, Atilla; Unal, Edip; Bestas, Asli; Solmaz, Asli Ece; Haspolat, Yusuf KenanIntroduction: The luteinizing hormone/choriogonadotropin receptor (LHCGR) plays a critical role in sexual differentiation and reproductive functions in men and women. Inactivating mutations in this gene lead to Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) in patients with 46,XY. In this study, it was aimed to discuss the clinical, laboratory and molecular genetic analysis results of nine patients with 46,XY karyotype who had mutations in the LHCGR gene.Materials and methods: The ages, complaints, anthropometric measurements and hormonal results (follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone) of the patients at the time of admission were recorded retrospectively from their medical records. The mutations in the LHCGR gene were investigated using the Sanger sequencing method.Findings: In this study, LHCGR gene mutations were detected in a total of nine patients as a result of the analysis of the index patients presenting with primary amenorrhea from four different families and the examination of the families. In the first three families with no consanguinity between, the same mutation was detected in seven patients in total (Homozygous c.161 + 4A > G). A different mutation was detected in the fourth family (Homozygous p.A483D c.1448C > A).Conclusion: In this study, nine patients with karyotype 46,XY, most of whom presented with the complaint of delayed puberty/primary amenorrhea, were diagnosed with LCH. Especially in patients, in whom the elevation of LH is pronounced and there is no testosterone synthesis, LCH should be considered.Öğe Retrospective evaluation of patients diagnosed with central precocious puberty who reached the final height(Walter De Gruyter Gmbh, 2024) Yaman, Kadri; Unal, Edip; Bestas, Asli; Karakaya, Amine Aktar; Beyazit, Nurcan; Kolbasi, BarisObjectives Central precocious puberty (CPP) is the onset of puberty before the age of 8 in girls and 9 in boys. The primary goal of CPP treatment is control and arrest of puberty development. In this study, it was aimed to determine the factors associated with final height in patients who received gonadotropin-releasing hormone analogs (GnRHa) treatment and reached their final height.Methods From the medical records of the patients, age on admission, bone age (BA), weight-standard deviation score (SDS), height-SDS, BMI-SDS, target height-SDS, basal LH, FSH, E2, age at menarche, and pelvic USG findings were obtained.Results The mean age on admission of the 67 female patients was 7.5 +/- 0.60 years. On admission, 4.5 % of the patients were obese and 19.4 % were overweight. There was no difference between BMI-SDS at admission and after treatment. The mean age at menarche was 11.57 +/- 0.78 years. About 58.2 % of the patients reached the target height, 35.8 % exceeded the target height, and 6 % were below the target height. The mean height-SDS and predicted adult height (PAH) on admission were better in patients who exceeded the target height. It was determined that target height-SDS had a positive effect on delta height-SDS, while BA/CA ratio had a negative effect.Conclusions It was found that GnRHa treatment did not have a negative effect on BMI-SDS. It was shown that 94 % of the patients who received GnRHa treatment reached the target height, and in fact, 35.8 % exceeded the target height. A greater final height may be associated with good height-SDS and PAH values on admission.Öğe Uzun boy nedeniyle başvuran hastada Marfan sendromu(Çocuk Endokrinolojisi ve Diyabet Derneği-İstanbul Üniversitesi Tıp Fakültesi-İnönü Üniversitesi Çocuk Sağlığı Enstitüsü, 2019) Karakaya, Amine Aktar; Beştaş, Aslı; Taş, Funda Feryal; Haspolat, Yusuf KenanUzun boy, boy persentilinin +2 standart deviasyonun (SD) olmasıdır. Aşırı boy uzaması büyüme hormunu (BH) fazlalığı gibi endokrinolojik nedenler dışında sendromik hastalıklarda da görülebilmektedir. Uzun boylu olgularda, öncelikle boy uzamasının orantılı olup olmadığı ve dismorfik bulguların eşlik edip etmediği değerlendirilmelidir.
