Our findings provide the missing link between the anxiolytic potential of propranolol and the biological basis of β-noradrenergic activation in the human BLA as a key target for the pharmacological inhibition of anxiety neurocircuitry. Moreover, our findings add to emerging evidence that NE modulates both the reactivity (sensitivity) and the operating characteristics (specificity) of the BLA via β-noradrenergic receptors.
Male pseudohermaphroditism due to steroid 5 alpha-reductase deficiency is the consequence of mutations in the gene encoding the type 2 isoenzyme. Most (60%) affected subjects have homozygous mutations, and the remainder are compound heterozygotes or presumed compound heterozygotes. We report an Italian subject with phenotypic and endocrine features of 5 alpha-reductase 2 deficiency who is homozygous for a substitution mutation (H231R). Although close consanguinity is not present, genealogical data demonstrated that the parents are distantly related, and both parents and the maternal grandmother are heterozygous carriers of the mutation. The fact that this particular mutation results in the formation of an enzyme with considerable residual activity may explain in part the significant degree of virilization that took place in this subject in early infancy. This same mutation (H231R) is present in heterozygous form in two other families, an African-American family and an American family of northern European descent.
Spermatic and peripheral plasma concentrations of testosterone (T) and androstenedione (A) have been measured in prepubertal boys affected by inguinal hernia (group I; n = 7) and unilateral undescended testis (group II; n = 18). Mean (+/- SE) spermatic T concentrations (47.7 +/- 14.8 ng/dl in group I; 36.3 +/- 3.4 ng/dl in group II) were significantly different from mean peripheral T concentrations (9.8 +/- 2.1 ng/dl in group I; 9.3 +/- 0.9 ng/dl in group II) in both groups (P less than 0.05 and P less than 0.0005, respectively). Mean spermatic A concentration (59.7 +/- 4.9 ng/dl) was significantly higher than mean peripheral A concentration (49.8 +/- 4.9 ng/dl) in group II (P less than 0.05) but not in group I. Mean spermatic and peripheral T and A values found in boys of group I were not significantly different from those found in group II. The mean spermatic/peripheral T ratio was higher (5.01 in group I; 4.42 in group II) than the corresponding mean spermatic/peripheral A ratio (1.27 in group I; 1.32 in group II) in both groups. Our data suggest that 1) although testicular T secretion is present in all prepubertal boys, A secretion is not constant and often negligible; 2) the contribution of testicular secretion to the circulating T is much more important than the contribution to the circulating A; 3) no significant differences were found between the testicular secretory pattern of prepubertal boys with inguinal hernia and unselected boys with unilateral undescended testis.
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