Tıp Fakültesi / Faculty of Medicine

Permanent URI for this collectionhttps://hdl.handle.net/11727/1403

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Subject: search.filters.subject.congenital adrenal hyperplasia

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    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.
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    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.