Browsing by Author "Demirbilek, H"

Now showing 1 - 4 of 4
  • No Thumbnail Available
    Item
    A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy
    Ozdemir Kutbay, N; Ozbek, MN; Sarer Yurekli, B; Demirbilek, H
    OBJECTIVES: X-linked adrenoleukodystrophy(X-ALD) is a rare X-linked recessive metabolic disorder. The mutations in the ATP Binding Cassette Subfamily D Member 1 (ABCD1) gene account for the underlying molecular mechanism. Herein, we present two siblings with X-ALD due to a missense, presumably identical, ABCD1 mutation, who had extremely distinct clinical phenotypes. MATERIAL AND METHODS: Patient 1 (6y/o) was admitted with primary adrenal insufficiency (PAI). His VLCFA analysis and cranial MRI suggested the diagnosis of X-ALD with no cranial involvement. Although the PAI was successfully managed using hydrocortisone replacement therapy, during follow-up he was admitted with the complaints of perception impairment, seizures, loss of vision and deafness suggesting cranial involvement which was not able to be recovered despite intensive supportive therapies; in the end patient died. Patient 2 (21y/o) had mild symptoms of PAI with no organ manifestation. He was undertaken to a molecular genetics analysis for ABCD1 gene due to history of his brother. His VLCFA analysis revealed mildly elevated C26, C22 and C26/C22 ratio suggesting ALD diagnosis. However, his cranial imaging and other results were within normal limits. CONCLUSION: Two siblings with X-ALD due to presumably an identical, missense ABCD1 mutation and distinct clinical phenotype have confirmed the lack of phenotype-genotype correlation and proved the essential role of molecular genetics analysis in the early diagnosis. It is crucial to follow up for the development of cranial involvement and decide a bone marrow transplantation which is the only option that can prevent the progression of the disease, thus extend the lifespan.
  • No Thumbnail Available
    Item
    Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome
    Sari, E; Bereket, A; Yesilkaya, E; Bas, F; Bundak, R; Aydin, BK; Darcan, S; Dündar, B; Büyükinan, M; Kara, C; Adal, E; Akinci, A; Atabek, ME; Demirel, F; Çelik, N; Öakan, B; Özhan, B; Orbak, Z; Ersoy, B; Dogan, M; Atas, A; Turan, S; Göksen, D; Tarim, Ö; Yüksel, B; Ercan, O; Hatun, S; Simsek, E; Ökten, A; Abaci, A; Döneray, H; Özbek, MN; Keskin, M; Önal, H; Akyürek, N; Bulan, K; Tepe, D; Emeksiz, HC; Demir, K; Kizilay, D; Topaloglu, AK; Eren, E; Özen, S; Demirbilek, H; Abali, S; Akin, L; Eklioglu, BS; Kaba, S; Anik, A; Bas, S; Unuvar, T; Saglam, H; Bolu, S; Özgen, T; Dogan, D; Çakir, ED; Sen, Y; Andiran, N; Çizmecioglu, F; Evliyaoglu, O; Karagüzel, G; Pirgon, Ö; Çatli, G; Can, HD; Gürbüz, F; Binay, Ç; Bas, VN; Fidanci, K; Gül, D; Polat, A; Acikel, C; Cinaz, P; Darendeliler, F
    To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P<0.001). The mean birth length was 1.3cm shorter and mean birth weight was 0.36kg lower than that of the normal population. The mean age at diagnosis was 10.1 +/- 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 +/- 1.7, -1.4 +/- 1.5, and 0.4 +/- 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P=0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. (c) 2016 Wiley Periodicals, Inc.
  • No Thumbnail Available
    Item
    Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group
    Darendeliler, F; Yesilkaya, E; Bereket, A; Bas, F; Bundak, R; Sari, E; Aydin, BK; Darcan, S; Dündar, B; Büyükinan, M; Kara, C; Mazicioglu, MM; Adal, E; Akinci, A; Atabek, ME; Demirel, F; Çelik, N; Özkan, B; Özhan, B; Orbak, Z; Ersoy, B; Dogan, M; Atas, A; Turan, S; Göksen, D; Tarim, Ö; Yüksel, B; Ercan, O; Hatun, S; Simsek, E; Ökten, A; Abaci, A; Döneray, H; Özbek, MN; Keskin, M; Önal, H; Akyürek, N; Bulan, K; Tepe, D; Emeksiz, HC; Demir, K; Kizilay, D; Topaloglu, AK; Eren, E; Özen, S; Demirbilek, H; Abali, S; Akin, L; Eklioglu, BS; Kaba, S; Anik, A; Bas, S; Ünüvar, T; Saglam, H; Bolu, S; Özgen, T; Dogan, D; Çakir, ED; Sen, Y; Andiran, N; Çizmecioglu, F; Evliyaoglu, O; Karagüzel, G; Pirgon, Ö; Çatli, G; Can, HD; Gürbüz, F; Binay, Ç; Bas, VN; Saglam, C; Gül, D; Polat, A; Açikel, C; Cinaz, P
    Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.
  • No Thumbnail Available
    Item
    Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study
    Yesilkaya, E; Bereket, A; Darendeliler, F; Bas, F; Poyrazoglu, S; Aydin, BK; Darcan, S; Dündar, B; Büyükinan, M; Kara, C; Sari, E; Adal, E; Akinci, A; Atabek, ME; Demirel, F; Çelik, N; Özkan, B; Özhan, B; Orbak, Z; Ersoy, B; Dogan, M; Atas, A; Turan, S; Göksen, D; Tarim, Ö; Yüksel, B; Ercan, O; Hatun, S; Simsek, E; ÖOkten, A; Abaci, A; Döneray, H; Özbek, MN; Keskin, M; Önal, H; Akyürek, N; Bulan, K; Tepe, D; Emeksiz, HC; Demir, K; Kizilay, D; Topaloglu, AK; Eren, E; Özen, S; Abali, S; Akin, L; Eklioglu, BS; Kaba, S; Anik, A; Bas, S; Ünüvar, T; Saglam, H; Bolu, S; Özgen, T; Dogan, D; Çakir, ED; Sen, Y; Andiran, N; Çizmecioglu, F; Evliyaoglu, O; Karagüzel, G; Pirgon, Ö; Çatli, G; Can, HD; Gürbüz, F; Binay, C; Bas, VN; Fidanci, K; Polat, A; Gül, D; Açikel, C; Demirbilek, H; Cinaz, P; Bondy, C
    Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45, X (50.7%), followed by 45, X/46, XX (10.8%), 46, X, i(Xq) (10.1%) and 45, X/46, X, i(Xq) (9.5%). Mean age at diagnosis was 10.2 +/- 4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45, X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.