Background: Testicular adrenal rest tumours (TART) are common cause of infertility in males with congenital adrenal hyperplasia (CAH).
Objective and hypotheses: Aim was to assess TART frequency and their impact on gonadal function in 46 children, adolescents and adult male patients with 21-hydroxylase deficiency (21-OHD) (24 salt wasting (SW), 14 simple vilirilizing, eight nonclassical) and four with 11-hydroxylase deficiency (11-OHD).
Method: Scrotal ultrasound (SU), FSH, LH, testosterone, androstenedione, 17-hydroxyprogesteone, inhibin-B and bone age were performed in 50, and spermiogram in two patients.
Results: TARTs were detected in 13 SW 21-OHD and one 11-OHD patients: 1/8 patients aged <7 years (2.3 year-old-boy is the youngest patient with TART reported until now), 1/8 patients aged <12 years, 5/17 patients aged <18 years and 7/17 adult patients. All patients with TART were compound heterozygous or homozygous for severe mutations. Poor hormonal control at the time of examination was detected in 5/14 patients with TART and 4/36 without TART. Poor long-term regulation (marked difference between bone age and chronological age or lower final height compared with target height) was detected in 6/14 patients with TART and 13/36 without TART. None of 14 patients with TART fathered the child. Two married, poorly regulated patients with low inhibin-B and high FSH level had azoospermia. Five other adults reported no cohabitation with females. Additionally, four patients had low inhibin-B level, three with high FSH (two adults and one adolescent) and one adult with suppressed FSH level. Six/36 patients without TART had lower level of inhibin-B but normal FSH level. Seven/36 patients without TART who are living with female partners fathered altogether 12 children.
Conclusion: Besides optimizing glucocorticoid treatment, we recommend SU TART screening by from early childhood especially in CAH patients with severe forms of disease. If TART is found in adolescent or adult, sperm cryopreservation should be considered.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology