ESPE Abstracts (2023) 97 P1-405

ESPE2023 Poster Category 1 Adrenals and HPA Axis (40 abstracts)

Multicenter study on clinical, biochemical and ultrasonographic characteristics, therapeutic management and outcome of TART in males with congenital adrenal hyperplasia.

Domenico Corica 1 , Federico Baronio 2 , Dominika Janus 3 , Gianni Russo 4 , Rita Ortolano 2 , Jerzy Starzyk 3 , Marianna Rita Stancampiano 4 , Mariacarolina Salerno 5 , Maria Felicia Faienza 6 , Anna Grandone 7 , Selenia Curatola 1 , Donatella Capalbo 8 & Malgorzata Wasniewska 1

1Department of Human Pathology of adulthood and childhood, University of Messina, Endo-ERN Center for Rare Endocrine Conditions, Messina, Italy. 2Department Hospital of Woman and Child, Pediatric Unit, IRCCS AOU di Bologna Policlinico di S. Orsola, Endo-ERN Center for Rare Endocrine Conditions, Bologna, Italy. 3Jagiellonian University Medical College. Department of Pediatric and Adolescent Endocrinology, University Children's Hospital in Krakow, Krakow, Poland. 4IRCCS San Raffaele Hospital, Department of Pediatrics, Endocrinology Unit, Milano, Italy. 5Pediatric Endocrinology Unit- Department of Translational Medical Sciences University of Naples Federico II and University Hospital Federico II, Endo-ERN Center for Rare Endocrine Conditions, Napoli, Italy. 6Department of Precision and Regenerative Medicine and Ionian Area, University of Bari "Aldo Moro", Bari, Italy. 7Department of Woman, Child and of General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Endo-ERN Center for Rare Endocrine Conditions, Napoli, Italy. 8Pediatric Endocrinology Unit, Department of Mother and Child, University Hospital Federico II, Endo-ERN Center for Rare Endocrine Conditions, Napoli, Italy

Objectives: 1. To describe the clinical, biochemical and testicular ultrasonographic features in a population of males with congenital adrenal hyperplasia (CAH) and Testicular Adrenal Rest Tumor (TART). 2. To identify factors related to the onset of TART. 3. To evaluate the therapeutic management and outcome of TART.

Methods: Males with classic and non-classic 21β-hydroxylase-deficient CAH, diagnosed with TART, followed at 7 national and international pediatric endocrinology centers, were retrospectively evaluated. Data acquired at the diagnosis of CAH, in the first two years of life, at the diagnosis of TART, and during assessments following the finding of TART were analyzed; these included: genotype; age at diagnosis of CAH and TART; clinical and auxological data; levels of 17-hydroxy progesterone (17-OHP), ACTH, delta4-androstenedione, testosterone; hydrocortisone dosage; dexamethasone therapy (yes/no and dosage); spermiogram; location, size, resolution, recurrence of TART. Poor disease control was defined as altered levels of ACTH, 17-OHP, and delta4-androstenedione.

Results: Forty-three patients were recruited, 95.3% with salt wasting (SW), 2.3% with simple virilizing form and 2.3% with non-classic CAH. The mean age at diagnosis of TART was 16.2±4.3 years. In 88.3% of cases, TART was bilateral and localized to the paramediastinal level. Palpable mass was found in 14% of cases, testicular pain in 2.3%. In the 4 patients who underwent spermiogram, 75% had azoospermia. In 83.7% of cases, poor disease control was documented before the diagnosis of TART. The finding and duration of poor disease control, as well as ACTH and adrenal steroid levels, did not correlate with age at onset, size, and resolution of TART. TART resolution was documented in 53.5% of cases. A positive correlation was documented between TART resolution and dexamethasone dosage (r= 0.636; P=0.002), but not with duration of dexamethasone therapy (r= -0.159; P=0.369). Univariate regression analysis confirmed the association between TART resolution and dexamethasone dosage (P=0.019). Genotype, clinical and biochemical data at diagnosis of CAH and in early life did not correlate with age of TART onset, resolution rate and number of recurrences.

Conclusions: In this study, one of the largest case series of CAH males with TART is described. Poor disease control would not appear to significantly influence the onset of TART, therefore it is conceivable that other factors may affect its onset. Dexamethasone dosage seems to be the only factor able to positively influence the regression of TART.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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