Browsing by Author "Guven, Ayla"

Filter results by typing the first few letters
Now showing 1 - 12 of 12
  • No Thumbnail Available
    Item
    46,XY Partial gonadal dysgenesis; diagnosis and long-term outcome at puberty
    (2022) Guven, Ayla; 0000-0002-2026-1326; I-8448-2019
  • No Thumbnail Available
    Item
  • No Thumbnail Available
    Item
    Analysis Of Therapy Monitoring In The International Congenital Adrenal Hyperplasia Registry
    (2022) Guven, Ayla; 35781728
    Objective Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4). Design Retrospective cohort study using real-world data to evaluate 17OHP and D4 in relation to hydrocortisone (HC) dose in CAH patients treated in 14 countries. Patients Pseudonymized data from children with 21-hydroxylase deficiency (21OHD) recorded in the International CAH Registry. Measurements Assessments between January 2000 and October 2020 in patients prescribed HC were reviewed to summarise biomarkers 17OHP and D4 and HC dose. Longitudinal assessment of measures was carried out using linear mixed-effects models (LMEM). Results Cohort of 345 patients, 52.2% female, median age 4.3 years (interquartile range: 3.1-9.2) were taking a median 11.3 mg/m(2)/day (8.6-14.4) of HC. Median 17OHP was 35.7 nmol/l (3.0-104.0). Median D4 under 12 years was 0 nmol/L (0-2.0) and above 12 years was 10.5 nmol/L (3.9-21.0). There were significant differences in biomarker values between centres (p < 0.05). Correlation between D4 and 17OHP was good in multiple regression with age (p < 0.001, R-2 = 0.29). In longitudinal assessment, 17OHP levels did not change with age, whereas D4 levels increased with age (p < 0.001, R-2 = 0.08). Neither biomarker varied directly with dose or weight (p > 0.05). Multivariate LMEM showed HC dose decreasing by 1.0 mg/m(2)/day for every 1 point increase in weight standard deviation score. Discussion Registry data show large variability in 17OHP and D4 between centres. 17OHP correlates with D4 well when accounting for age. Prescribed HC dose per body surface area decreased with weight gain.
  • No Thumbnail Available
    Item
  • No Thumbnail Available
    Item
  • No Thumbnail Available
    Item
    Hormonal Control During Infancy and Testicular Adrenal Rest Tumor Development in Males with Congenital Adrenal Hyperplasia: A Retrospective Multicenter Cohort Study
    (2023) Schroder, Mariska A. M.; Neacsu, Mihaela; Adriaansen, Bas P. H.; Sweep, Fred C. G. J.; Ahmed, S. Faisal; Ali, Salma R.; Bachega, Tania A. S. S.; Baronio, Federico; Birkebaek, Niels Holtum; de Bruin, Christiaan; Bonfig, Walter; Bryce, Jillian; Clemente, Maria; Cools, Martine; Elsedfy, Heba; Globa, Evgenia; Guran, Tulay; Guven, Ayla; Amr, Nermine Hussein; Janus, Dominika; Taube, Nina Lenherr; Markosyan, Renata; Miranda, Mirela; Poyrazoglu, Sukran; Rees, Aled; Salerno, Mariacarolina; Stancampiano, Marianna Rita; Vieites, Ana; de Vries, Liat; Abali, Zehra Yavas; Span, Paul N.; Claahsen-van der Grinten, Hedi L.; 0000-0002-2026-1326; 37837609; I-8448-2019
    Importance: Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development. Objective: This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development. Design and participants: This retrospective multicenter (n = 22) open cohort study collected longitudinal clinical and biochemical data of the first 4 years of life using the I-CAH registry and included 188 male patients (median age 13 years; interquartile range: 10-17) with 21-hydroxylase deficiency (n = 181) or 11-hydroxylase deficiency (n = 7). All patients underwent at least 1 testicular ultrasound. Results: TART was detected in 72 (38%) of the patients. Prevalence varied between centers. When adjusted for CAH phenotype, a delayed CAH diagnosis of >1 year, compared with a diagnosis within 1 month of life, was associated with a 2.6 times higher risk of TART diagnosis. TART onset was not predicted by biochemical disease control or bone age advancement in the first 4 years of life, but increased height standard deviation scores at the end of the 4-year study period were associated with a 27% higher risk of TART diagnosis. Conclusions: and relevance A delayed CAH diagnosis of >1 year vs CAH diagnosis within 1 month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life.
  • No Thumbnail Available
    Item
  • No Thumbnail Available
    Item
    An International Study of the Association between Local Health Care Resources and Acute Adrenal Insufficiency Events in Children with Congenital Adrenal Hyperplasia
    (2022) Tseretopoulou, Xanthippi; Ali, Salma R.; Bryce, Jillian; Navoda, Atapattu; Birkebaek, Niels H.; Baronio, Federico; Bonfig, Walter; Claahsen-van der Grinten, Hedi L.; Cools, Martine; Darendeliler, Feyza; Poyrazoglu, Sukran; de Sanctis, Luisa; Elsedfy, Heba; Finken, Martijn J. J.; Fluck, Christa E.; Gevers, Evelien; Korbonits, Marta; Guran, Tulay; Guven, Ayla; Hughes, Ieuan A.; Tadokoro-Cuccaro, Rieko; Thankamony, Ajay; Iotova, Violeta; Krone, Ruth; Lichiardopol, Corina; Mendonca, Berenice B.; Bachega, Tania A. S. S.; Miranda, Mirela C.; Milenkovic, Tatjana; Mohnike, Klaus; Nordenstrom, Anna; van der Kamp, Hetty J.; Ahmed, Syed Faisal
  • No Thumbnail Available
    Item
    Is There A Secular Trend Regarding Puberty In Children With Down Syndrome?
    (2022) Erdogan, Furkan; Guven, Ayla; 36457553
    IntroductionThere are very few studies on the age of onset and end of puberty in children with Down syndrome (DS). Also, data regarding the course of puberty in these children compared to their healthy peers is limited. Moreover, there is limited information regarding the effects of factors such as obesity and hypothyroidism on the puberty process in children with DS. Our aim in our study is to determine whether the pubertal development of children with DS differs from their healthy peers and from previous studies conducted with DS children. MethodsThe medical records of DS children were examined retrospectively. The anthropometric measurements and the age of onset of pubertal stages, and menarche were recorded. The patients' age at puberty onset, the puberty processes, and age at menarche were compared with their healthy peers and previously published data on children with DS. ResultsOf the 140 Down syndrome patients followed in our clinic, 51 of whom with puberty constituted the study group. The mean age of onset of puberty was 10.3 +/- 1.0 years in our group (10.0 +/- 0.8 years for girls, 10.6 +/- 1.2 years for boys, respectively). Obesity occurred in 46% of pubertal girls with DS. The age of menarche in girls with DS was 11.8 +/- 0.7 years. The menarche age of girls with DS was significantly different from healthy girls. In the DS boys, only the Tanner V stage ages were different from the healthy children. True- precocious-puberty was detected in three children. ConclusionAlthough breast development begins later in females with DS than in their healthy peers; menarche is detected earlier than in their peers and a tendency towards obesity in the whole population. While the age of pubertal onset was similar to healthy children in male patients, our findings suggest that their puberty duration is longer.
  • No Thumbnail Available
    Item
  • No Thumbnail Available
    Item
    Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study
    (2019) Akinci, Aysehan; Turkkahraman, Doga; Tekedereli, Ibrahim; Ozer, Leyla; Evren, Bahri; Sahin, Ibrahim; Kalkan, Tarkan; Curek, Yusuf; Camtosun, Emine; Doger, Esra; Bideci, Aysun; Guven, Ayla; Eren, Erdal; Sangun, Ozlem; Cayir, Atilla; Bilir, Pelin; Ergur, Ayca Torel; Ercan, Oya; 30991789
    Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with nonsyndromic early onset severe obesity. Methods: Children with severe (body mass index-standard deviation score >3) and early onset (<7 years) obesity were screened by next-generation sequencing based, targeted DNA custom panel for 41 known-obesity-related genes and the results were confirmed by Sanger technique. Results: Six novel variants were identified in five candidate genes in seven out of 105 children with severe obesity; two in SIM1 (p.W306C and p.Q36X), one in POMC (p.Y160H), one in PCSK1 (p.W130G fs Ter8), two in MC4R (p.D126E) and one in LEPR (p.Q4H). Additionally, two previously known variations in MC4R were identified in four patients (p.R165W in three, and p.V166I in one). Conclusion: We identified six novel and four previously described variants in six obesity-related genes in 11 out of 105 childrens with early onset severe obesity. The prevalence of monogenic obesity was 10.4% in our cohort.
  • No Thumbnail Available
    Item