Melissa K Crocker1, Evgenia Gourgari, Maya Lodish, Constantine A Stratakis. 1. Section on Endocrinology and Genetics (M.K.C., E.G., M.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institutes of Child Health and Human Development, National Institute of Health, Bethesda, Maryland 20892; Division of Endocrinology (M.K.C.), Boston Children's Hospital, Boston, Massachusetts 02115; and Division of Pediatric Endocrinology (E.G.), Georgetown University, Washington, D.C. 20007.
Abstract
CONTEXT: Large cell calcifying Sertoli cell tumors (LCCSCT) present in isolation or, especially in children, in association with Carney Complex (CNC) or Peutz-Jeghers Syndrome (PJS). These tumors overexpress aromatase (CYP19A1), which leads to increased conversion of delta-4-androstenedione to estrone and testosterone to estradiol. Prepubertal boys may present with growth acceleration, advanced bone age, and gynecomastia. OBJECTIVE: To investigate the outcomes of aromatase inhibitor therapy (AIT) in prepubertal boys with LCCSCTs. DESIGN: Case series of a very rare tumor and chart review of cases treated at other institutions. SETTING: Tertiary care and referral center. PATIENTS: Six boys, five with PJS and one with CNC, were referred to the National Institutes of Health for treatment of LCCSCT. All patients had gynecomastia, testicular enlargement, and advanced bone ages, and were being treated by their referring physicians with AIT. INTERVENTIONS: Patients were treated for a total of 6-60 months on AIT. MAIN OUTCOME MEASURES: Height, breast tissue mass, and testicular size were all followed; physical examination, scrotal ultrasounds, and bone ages were obtained, and hormonal concentrations and tumor markers were measured. RESULTS: Tumor markers were negative. All patients had decreases in breast tissue while on therapy. Height percentiles declined, and predicted adult height moved closer to midparental height as bone age advancement slowed. Testicular enlargement stabilized until entry into central puberty. Only one patient required unilateral orchiectomy. CONCLUSIONS: Patients with LCCSCT benefit from AIT with reduction and/or elimination of gynecomastia and slowing of linear growth and bone age advancement. Further study of long-term outcomes and safety monitoring are needed but these preliminary data suggest that mammoplasty and/or orchiectomy may be foregone in light of the availability of medical therapy.
CONTEXT: Large cell calcifying Sertoli cell tumors (LCCSCT) present in isolation or, especially in children, in association with Carney Complex (CNC) or Peutz-Jeghers Syndrome (PJS). These tumors overexpress aromatase (CYP19A1), which leads to increased conversion of delta-4-androstenedione to estrone and testosterone to estradiol. Prepubertal boys may present with growth acceleration, advanced bone age, and gynecomastia. OBJECTIVE: To investigate the outcomes of aromatase inhibitor therapy (AIT) in prepubertal boys with LCCSCTs. DESIGN: Case series of a very rare tumor and chart review of cases treated at other institutions. SETTING: Tertiary care and referral center. PATIENTS: Six boys, five with PJS and one with CNC, were referred to the National Institutes of Health for treatment of LCCSCT. All patients had gynecomastia, testicular enlargement, and advanced bone ages, and were being treated by their referring physicians with AIT. INTERVENTIONS:Patients were treated for a total of 6-60 months on AIT. MAIN OUTCOME MEASURES: Height, breast tissue mass, and testicular size were all followed; physical examination, scrotal ultrasounds, and bone ages were obtained, and hormonal concentrations and tumor markers were measured. RESULTS:Tumor markers were negative. All patients had decreases in breast tissue while on therapy. Height percentiles declined, and predicted adult height moved closer to midparental height as bone age advancement slowed. Testicular enlargement stabilized until entry into central puberty. Only one patient required unilateral orchiectomy. CONCLUSIONS:Patients with LCCSCT benefit from AIT with reduction and/or elimination of gynecomastia and slowing of linear growth and bone age advancement. Further study of long-term outcomes and safety monitoring are needed but these preliminary data suggest that mammoplasty and/or orchiectomy may be foregone in light of the availability of medical therapy.
Authors: A Kaluzny; M Matuszewski; S Wojtylak; K Krajka; W Cichy; A Plawski; A Gintowt; B S Lipska Journal: Int Urol Nephrol Date: 2011-12-11 Impact factor: 2.370