Abstract
X-linked congenital adrenal hypoplaeia (CAH) may occur alone or in association with hypogonadotropic hypogonadism (HH), glycerol kinase deficiency (GKD) and myopathy. The relationship between these conditions is genetic since the loci for CAH, HH and GKH are located in the same region of X chromosome. A progressive high frequency hearing loss (HL) has been recently described only by Zachmann. We report two male cousins (aged 24.2 and 21.7 yrs at last observation) with CAH, HH and an unusual tall stature. GKD was excluded by determination of plasma and urine glycerol levels. A mild bilateral HL for high frequencies was diagnosed in the younger patient at 15 yrs of age. At this time the audiogram of the older patient was normal. The hearing evaluation performed in the following years showed a progression of the HL most evident at 4KHr in the younger patient and a cochlear site of lesion was revealed by brainstem response audiometry. In the older patient, the last audiogram showed just a slight asymmetric sensorineural HL for the high frequencies (2-8 KHr}. In agreement with Zachmann's report, our data show that HL may be associated with CAH and HH even if the degree of HL is unpredictable. Therefore the hearing funciton of these patients must be monitored. The hypothesis of a genetic basis of the relationship between CAH, HH and HL (vicinity of the locus of X-linked deafness with the loci of CAH and HH) is fashinating and requires further support.
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Balducci, R., Conti, G., Pasquino, A. et al. X-LINKED CONGENITAL ADRENAL HYPOPLASIA, GONADOTROPIN DECICIENCY AND HIGH FREQUENCIES SENSORINEURAL HEARING LOSS. Pediatr Res 33 (Suppl 5), S20 (1993). https://doi.org/10.1203/00006450-199305001-00104
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DOI: https://doi.org/10.1203/00006450-199305001-00104