Abstract
The association of PJS and SCT is rare. Gynecomastia and advanced bone age in the affected individuals depends of estradiol secretion. KTZ inhibit p450-cythochrome dependent enzyme 17,20 - 1 lyase and hence testosterone synthesis. We report a case of a 6,5 y old white boy with gynecomastia. Height 90th and weight 25th centiles; melanotic spots in nose and lips; breasts Tanner stage III at right and II at left; no pubic hair; penile length was at 50th centile: testes 4 ml with no palpable masses. BA was 9,5 y. Brain CT and ultrassonograpy (US) and CT of the abdomen were normal; US of the gonadas showed multiple areas of hyperechogenicity. GI RY series with polips in stomach and duodenum. Alpha-fetoprotein and carcinoembrionic antigen were negative.17KS: 11,4 umol,and 17 OHCS: 21,8 umol; undetectable b-HCG;normal prolactin; two LH-RH tests without response of both FSH and LH; random E2 serum concentrations were normal in one occasion (42.2 pmol/L) and elevated in another (205.6 pmol/L); basal and post-HCG serum testosterone were 0.4 and 17.3 nmol/L respectively, Bilateral testicular biopsy revealed a SCT. The father, father's brother and sister, and a 9 old sib have PJS. Started on KTZ until reaching 600 mg/day (for 19 months). Liver function not affected. Gynecomastia waned completely at left and has been stage II (soft) at right. Testes are 6ml; BA (11 y) advanced 1.5 years in the last 2.1 years, though the treatment started 6 months after the first BA evaluation. PAH was 170 cm before therapy, and is currently 1.75 cm., KTZ appears to be an promising therapeutical approach
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Lacerda, L., Kohara, S., Boguszewski, M. et al. 9 PSEDOPRECOCIOUS PUBERTY IN A BOY WITH PEUTZ-JEGHERS SYNDROME (PJS) AND FEMINIZING SEXCORD TUMOR (SCT). EFFECTS OF TREATMENT WITH KETOCONAZOLE (KTZ). Pediatr Res 36, 673 (1994). https://doi.org/10.1203/00006450-199411000-00033
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DOI: https://doi.org/10.1203/00006450-199411000-00033