Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: A retrospective multicenter cohort study

Schröder, Mariska, Neacşu, Mihaela, Adriaansen, Bas P.H., Sweep, Fred C.G.J., Ahmed, S. Faisal, Ali, Salma R., Bachega, Tânia A.S.S, Baronio, Federico, Holtum Birkebæk, Niels, de Bruin, Christiaan, Bonfig, Walter, Bryce, Jillian, Clemente, Maria, Cools, Martine, Elsedfy, Heba, Globa, Evgenia, Guran, Tulay, Güven, Ayla, Hussein Amr, Nermine, Janus, Dominika, Lenherr Taube, Nina, Markosyan, Renata, Miranda, Mirela, Poyrazoğlu, Şükran, Rees, Aled ORCID: https://orcid.org/0000-0002-1165-9092, Salerno, Mariacarolina, Stancampiano, Marianna Rita, Vieites, Ana, de Vries, Liat, Yavas Abali, Zehra, Span, Paul N. and Claahsen-van der Grinten, Hedi L. 2023. Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: A retrospective multicenter cohort study. European journal of endocrinology 189 (4) , pp. 460-468. 10.1093/ejendo/lvad143 Item availability restricted.

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Neuroscience and Mental Health Research Institute (NMHRI)
Publisher:	Oxford University Press
ISSN:	0804-4643
Date of First Compliant Deposit:	26 September 2023
Date of Acceptance:	19 September 2023
Last Modified:	27 Feb 2024 16:30
URI:	https://orca.cardiff.ac.uk/id/eprint/162754

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