Key result
A 14-year-old boy presenting with gynecomastia and large-cell calcifying Sertoli cell tumor was diagnosed with Carney complex due to a PRKAR1A mutation and managed conservatively.
Why the study?
Carney complex is a rare multiple neoplasia syndrome that is frequently misdiagnosed owing to its diverse clinical characteristics.
Case Report (n=1)
Gynecomastia and large-cell calcifying Sertoli cell tumor can be presenting features of Carney complex, highlighting the need for thorough clinical examination and genetic testing.
May prompt Carney complex screening in adolescents with gynecomastia plus Sertoli tumors; leaves open optimal management and broader phenotype.
BACKGROUND Carney complex (CNC) is a rare multiple neoplasia syndrome with autosomal dominant inheritance. CNC is frequently misdiagnosed owing to its diverse clinical characteristics. We reported the case of a 14-year-old Saudi boy with a history of gynecomastia, Cushing syndrome, large-cell calcifying Sertoli cell tumor of the testis, and CNC. CASE REPORT The patient was referred to the pediatric endocrine clinic for evaluation of bilateral slow progressing gynecomastia for 1-year duration. His clinical examination revealed lentigenes, bilateral diffuse breast enlargement (consistent with Tanner stage III), and asymmetrical testicular enlargement, more on the left side. Other systemic examinations were unremarkable. The initial blood workup showed elevated estradiol level with unsuppressed cortisol after an overnight 1-mg dexamethasone suppression test. Breast ultrasound (US) confirmed true gynecomastia. Testicular US revealed microcalcification and the testicular biopsy confirmed diagnoses of large-cell calcifying Sertoli cell tumor (LCCSCT). A 2-step dexamethasone suppression test showed a paradoxical rise in serum and urine cortisol levels, which are characteristic for PPNAD. LCCSCT and PPNAD are 2 major criteria fulfilling a diagnosis of CNC. The gene test showed heterozygous mutation in the PRKAR1A gene, which is diagnostic for CNC. The patient underwent bilateral mastoplasty and was planned for radical left orchiectomy. CONCLUSIONS Gynecomastia and LCCSCT can be presenting features of CNC, which mandates careful, thorough clinical examination and tailored investigation to reach a diagnosis.
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Alruwaili et al. (2022) conducted a case report in Carney complex (n=1). Conservative management and bilateral mastoplasty was evaluated. A 14-year-old boy presenting with gynecomastia and large-cell calcifying Sertoli cell tumor was diagnosed with Carney complex due to a PRKAR1A mutation and managed conservatively.
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