Abstract | CONTEXT: OBJECTIVE: 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 | Melissa K Crocker, Evgenia Gourgari, Maya Lodish, Constantine A Stratakis |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 99
Issue 12
Pg. E2673-80
(Dec 2014)
ISSN: 1945-7197 [Electronic] United States |
PMID | 25226294
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural)
|
Chemical References |
- Antineoplastic Agents
- Aromatase Inhibitors
- Nitriles
- Triazoles
- Anastrozole
- Letrozole
- Protein Serine-Threonine Kinases
- STK11 protein, human
- AMP-Activated Protein Kinase Kinases
|
Topics |
- AMP-Activated Protein Kinase Kinases
- Anastrozole
- Antineoplastic Agents
(therapeutic use)
- Aromatase Inhibitors
(therapeutic use)
- Bone Development
(drug effects)
- Calcinosis
(drug therapy, pathology)
- Carney Complex
(genetics)
- Child
- Child, Preschool
- Growth
(drug effects)
- Gynecomastia
(drug therapy, etiology)
- Humans
- Infant
- Letrozole
- Male
- Nitriles
(therapeutic use)
- Peutz-Jeghers Syndrome
(genetics)
- Protein Serine-Threonine Kinases
(genetics)
- Sertoli Cell Tumor
(complications, drug therapy, pathology)
- Treatment Outcome
- Triazoles
(therapeutic use)
|