Massive Extraglandular Aromatization of Plasma Androstenedione Resulting in Feminization of a Prepubertal Boy

Abstract

A B S T R A C T This

Familial gynecomastia with increased extraglandular aromatization of plasma carbon19-steroids.

“…The plasma E2 levels were disproportionately elevated compared with those of plasma T in both the base-line and the post hCG-treatment samples (17). In addition, there was no abnormal accumulation of plasma DHA, P, 17 Io-L I200 10o 1800 2100 24000300 0600 0900 1200 1500 1800 2100 2400 0300 0600 0900 24-HOUR CLOCK TIME (6). A number of similarities exist between the subjects of the present study and the subject described by Hemsell et al The five affected family members in our study developed gynecomastia at an early age (10-1 1 yr), starting concomitantly with the sexual maturational processes of male puberty.…”

“…Gynecomastia is a common finding among pubertal boys; usually, it is limited to a nodule of subareolar tissue, and ordinarily the breast enlargement begins during the early stages of the pubertal process and thereafter regresses within [6][7][8][9][10][11][12][13][14][15][16][17][18] mo. Levels of plasma testosterone (T),' estradiol-17# (E2), serum luteinizing hormone (LH), and follicle-stimulating hormone (FSH) in boys with pubertal gynecomastia are not significantly different from those in unaffected boys (1), although a relative increase in the level of plasma E2 compared with that of T during certain times of the day has been found (2).…”

“…In Table II the 3H/l4C ratio and the specific activity of El isolated from urine after was 1.5 cm and the testes were 2 X 4 cm bilaterally. As given hydrolysis ofglucuronosides with fl-glucuronidase as previously described in Table I, the plasma level of E2 in this subject was elevated, (6,8 were obtained from New England Nuclear, Boston, MA. All radiolabeled The [P]BUTE2 and PR-E2 were computed from the 3H/'4C ratio and the steroids were purified by paper chromatography and passage through specific activity of E2 isolated from urine after hydrolysis of glucurona 0.2-gm Millex-FG filter unit (Millipore Corp., Bedford, MA).…”

“…All radiolabeled The [P]BUTE2 and PR-E2 were computed from the 3H/'4C ratio and the steroids were purified by paper chromatography and passage through specific activity of E2 isolated from urine after hydrolysis of glucurona 0.2-gm Millex-FG filter unit (Millipore Corp., Bedford, MA). Before osides with fl-glucuronidase (6,8).…”

“…Hemsell et al (6) proposed that the increased extraglandular aromatization was due to a persistence of fetal levels of both aromatase and sulfokinase enzyme activities. In view of the difference in the level of peripheral aromatase activity observed in our subjects (10 times normal), compared with the activity in the subject described by Hemsell et Hemsell et al (6) reported that <6% of the aromatization observed in their subject occurred in intrahepatic sites.…”