Testicular adrenal rest tumors in congenital adrenal hyperplasia—cross-sectional study of 51 Croatian male patients

Testicular adrenal rest tumors (TARTs) are common cause of infertility in males with congenital adrenal hyperplasia (CAH). We studied the role of genotype and disease regulation on TART development, their impact on gonadal function, and frequency in 47 21-hydroxylase deficiency (21-OHD) and four 11-...

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Bibliographic Details
Published in:European journal of pediatrics 2017-10, Vol.176 (10), p.1393-1404
Main Authors: Dumic, Miroslav, Duspara, Vlatko, Grubic, Zorana, Oguic, Sasa Kralik, Skrabic, Veselin, Kusec, Vesna
Format: Article
Language:English
Subjects:
Adolescent
Adrenal glands
Adrenal Hyperplasia, Congenital - complications
Adrenal Hyperplasia, Congenital - genetics
Adrenal Hyperplasia, Congenital - physiopathology
Adrenal Rest Tumor - diagnosis
Adrenal Rest Tumor - etiology
Adrenal Rest Tumor - physiopathology
Adult
Age Factors
Androgens
Child
Child, Preschool
Children
Congenital diseases
Cross-Sectional Studies
Disease control
Disease Progression
Genotype
Humans
Hydroxylase
Hyperplasia
Infant
Infertility
Infertility, Male - diagnosis
Infertility, Male - etiology
Infertility, Male - physiopathology
Inhibin
Male
Medicine
Medicine & Public Health
Mutation
Original Article
Patients
Pediatrics
Risk Factors
Testes
Testicular Neoplasms - diagnosis
Testicular Neoplasms - etiology
Testicular Neoplasms - physiopathology
Tumors
Ultrasound
Young Adult
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Summary:Testicular adrenal rest tumors (TARTs) are common cause of infertility in males with congenital adrenal hyperplasia (CAH). We studied the role of genotype and disease regulation on TART development, their impact on gonadal function, and frequency in 47 21-hydroxylase deficiency (21-OHD) and four 11-hydroxylase deficiency (11-OHD) male patients. Testicular ultrasound (TU), genotype, hormonal measurement in 51, and spermiogram in five patients were performed. TARTs were detected in 14 SW21-OHD and one 11-OHD patient: 1/8 patients aged
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-017-3008-7