Abstract
HALT has been reported in male pts with CAH. We have examined 15 male adolescents and young adults with CAH aged 11.9 -36 yrs. Size, shape and firmness of the testes were assessed clinically and US was performed at least once in each pt. Seven pts, all under long standing treatment with glucocorticoids, showed abnormal results by US (group I); and B pts, 5 under treatment and 3 off treatment for several yrs, showed normal results (group II). In group I testes had normal volume (9-15ml), felt hard and had irregular shape. On US there was an abnormal heterogeneous pattern. Sperm count obtained in 3 pts was 5.0 to 17.4 × 106/ml. Biopsy in 1 pt confirmed the presence of HALT. Five pts have 21-hydroxylase deficiency diagnosed in early infancy because of manifest salt loss; 2 pts have 11-β-hydroxylase deficiency diagnosed late (2 and 5 yrs). In group II testicular volume (6-18ml), shape and firmness were normal, and US revealed a normal homgeneous pattern. All pts have 21-hydroxylase deficiency, no history of salt loss and were diagnosed late (3-7 yrs). Sperm counts in 3 pts off treatment were 10.5, 20.0 and 66.0 × 106/ml.
Conclusions: US shous HALT objectively. HALT with deficient spermiogenesis is frequent in male adolescents and young adults with salt loss, even under treatment. In mild cases, HALT is absent, spermiogenesis may be nl, even off treatment.
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Willi, U., Atarés, M., Prader, A. et al. TESTICULAR ULTRASONOGRAPHY (US) DEMONSTRATING HETEROTOPIC ADRENAL-LIKE TISSUE (HALT) IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH). Pediatr Res 20, 1202 (1986). https://doi.org/10.1203/00006450-198611000-00169
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DOI: https://doi.org/10.1203/00006450-198611000-00169