title: Precocious puberty in a 7-year-old boy: a novel case.
abstract: A 7-year-old boy was referred for evaluation of precocious puberty, evidenced by penile enlargement and pubic hair formation. His testicular size was prepubertal bilaterally. A comprehensive hormonal evaluation showed an elevated serum testosterone value (4.0 nmol/L) and a prepubertal gonadotropin value. A 0.9-cm heterogenous left testicular mass was detected on scrotal ultrasonography. Inguinal exploration was performed with ultrasound-guided open testicular biopsy and orchiectomy. Pathologic evaluation of the orchiectomy specimen showed the unclassified type of a mixed germ cell sex cord stromal tumor (MGCSCST), composed of neoplastic Sertoli cells and seminoma-like germ cells. Isolated previous reports of unclassified MGCSCSTs of the testis are now thought to be reports of sex cord stromal tumors with entrapped non-neoplastic germ cells. In our patient, the germ cells appeared to be neoplastic with aberrant expression of c-kit and placental alkaline phosphatase, a high proliferative rate, and DNA aneuploidy. Postoperatively, the patient's serum testosterone concentrations returned to prepubertal values (<0.2 nmol/L) and puberty was halted. This case represents a novel cause of precocious puberty.
authors.affiliation: Department of Urology, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: Christian A
authors.initials: CA
authors.lastname: Hettinger
authors.forename: John C
authors.initials: JC
authors.lastname: Cheville
authors.forename: Aida N
authors.initials: AN
authors.lastname: Lteif
authors.forename: Nathan A
authors.initials: NA
authors.lastname: Bradley
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Kramer
mesh_terms: D002648:Child; D006801:Humans; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000150:complications*; D011629:Puberty, Precocious / Q000209:etiology*; D013736:Testicular Neoplasms / Q000150:complications*