ECE2023 Oral Communications Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 (6 abstracts)
The association between hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia
Mariska Schröder 1 , Mihaela Neacşu 1 , Fred Sweep 2 , Paul N Span 3 , Bas Adriaansen 1 , Antonius van Herwaarden 2 , Jillian Bryce 4 , Faisal Ahmed 4 , Salma Ali 4 , Tânia Aparecida Sartori Sanchez Bachega 5 , Federico Baronio 6 , Niels Holtum Birkebæk 7 , Walter Bonfig 8 , Maria Clemente 9 , Martine Cools 10 , Christiaan de Bruin 11 , Liat de Vries 12 , Heba Elsedfy 13 , Evgenia Globa 14 , Tulay Güran 15 , Ayla Güven 16 , Nermine Hussein Amr 13 , Dominika Januś 17 , Daniel Konrad 18 , Renata Markosyan 19 , Mirela Miranda 5 , Şükran Poyrazoğlu 20 , Aled Rees 21 , Mariacarolina Salerno 22 , Marianna Rita Stancampiano 23 , Ana Vieitis 24 , Zehra Yavas Abali 15 & Hedi Claahsen – van der Grinten 25
1Radboud University Medical Center; Radboud Institute for Molecular Life Sciences (RIMLS), Department of Laboratory Medicine and department of Pediatrics, Nijmegen, Netherlands; 2Radboud University Medical Center, Department of Laboratory Medicine, Nijmegen, Netherlands; 3Radboud University Medical Center, Radiotherapy & OncoImmunology Laboratory, Department of Radiation Oncology, Nijmegen, Netherlands; 4University of Glasgow, Developmental Endocrinology Research Group, Glasgow, Scotland, United Kingdom; 5University of Sao Paulo, Department of Internal Medicine, Sao Paulo, Brazil, 6. Orsola-Malpighi University Hospital, Endo-ERN Center for Rare Endocrine Conditions, Department of Medical and Surgical Sciences, Bologna, Italy; 7Aarhus University Hospital, Department of Pediatrics, Aarhus, Denmark; 8Technical University Munich, Department of Pediatrics, Munich, Germany; 9Hospital Vall d´Hebron, Autonomous University of Barcelona, Pediatric Endocrinology Unit, Barcelona, Spain; 10University Hospital Ghent, Ghent University, Pediatric Endocrinology, Internal Medicine and Pediatric Research Unit, Ghent, Belgium; 11Leiden University Medical Center, Department of Pediatrics, Leiden, Netherlands; 12Tel Aviv University, Paediatrics, Tel Aviv Sackler Faculty of Medicine, Tel Aviv, Israel; 13Ain Shams University, Pediatrics Department, Cairo, Egypt; 14Ukrainian Scientific and Practical Center of Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of the Ministry of Health of Ukraine, Kyiv, Ukraine; 15Marmara University, Pediatric Endocrinology and Diabetes, Istanbul, Turkey; 16Istanbul Hospital, Baskent University Medical Faculty, Istanbul, Turkey; 17Jagiellonian University Medical College and Children’s University Hospital, Department of Pediatric and Adolescent Endocrinology, Institute of Pediatrics, Krakow, Poland; 18University Children’s Hospital, Division of Pediatric Endocrinology and Diabetology, Zurich, Switzerland; 19Yerevan State Medical University, Department of Internal Medicine, Yerevan, Armenia; 20Istanbul University, İstanbul Faculty of Medicine, Unit of Pediatric Endocrinology, Istanbul, Turkey; 21Cardiff University, Neuroscience and Mental Health Research Institute, Cardiff, United Kingdom; 22University of Naples Federico II, Pediatric Endocrine Unit, Department of Translational Medical Sciences, Naples, Italy; 23Scientific Institute San Raffaele, Department of Pediatrics, Endocrine Unit, Milan, Italy; 24Centro de Investigaciones Endocrinológicas Buenos Aires, Buenos Aires, Argentina; 25Amalia Children’s Hospital, Radboud University Medical Center, Department of Pediatrics, Nijmegen, Netherlands
Background: Testicular Adrenal Rest Tumors (TART) in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) are benign lesions causing testicular damage and infertility. We hypothesize that high ACTH exposure due to poor hormonal control during early life is promoting development of TART later in life.
Objective: This study aims to examine the relation between early CAH diagnosis and consequent start of adequate glucocorticoid treatment (<1 month vs>1 month but<1 year vs>1 year) ánd the development of TART as well as the relationship between biochemical disease control during infancy and early childhood and the development of TART.
Methods: In this retrospective open cohort study, data was collected from the I-CAH registry; an international database of pseudonymized information on CAH patients. The study included 189 male patients from 22 centers with 21OHD (n=182) or 11OHD (n=7) in which at least one testicular ultrasound (US) was performed.
Results: TART was detected by US in 38% of the patients. Prevalence varied enormously between centers. Salt-wasting phenotype was associated with a 3.2 (confidence interval: 1.1-9.0) times higher risk of TART diagnosis compared to simple virilizing phenotype. When adjusted for CAH phenotype, a delayed CAH diagnosis of more than 1 year, compared to a diagnosis within 1 month of life, was associated with a 2.4 (1.3-4.7) times higher risk of TART diagnosis later in life. Biochemical disease control (undertreatment versus adequate treatment or overtreatment) or bone age advancement (as a consequence of poor disease control) in the four yearly visits did not predict TART diagnosis later in life. Increased height SDS at the end of the four-year follow-up period, but not at earlier visits, was associated with a 1.3 (1.1-1.5) times higher risk of TART diagnosis later in life.
Conclusion: A delayed CAH diagnosis of more than 1 year versus CAH diagnosis within 1 month of life is associated with a higher risk of TART development, what might be attributed to high ACTH exposure of the neonatal testes. However, the relation between a delayed CAH diagnosis and TART diagnosis may be confounded by a potential link between delayed CAH diagnosis and experience in and quality of CAH care. The number of patients per center did not allow for normalization of potential center-specific effects. Nonetheless, neonatal screening may help improving CAH treatment and lower the risk of TART development later in life.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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