ESPE Abstracts

Background: Carney complex (CNC) is a rare multi endocrine neoplasia syndrome associated with endocrine and non-endocrine tumours. Three types of testicular tumour have been described; large cell calcifying Sertoli tumours (LCCST), Leydig cell tumours and testicular tumours of adrenal origin. LCCST is a rare benign stromal tumour, which has been observed in 41% of males affected with CNC, usually appearing in the first decade of life. It can be hormonally active, presenting with gynaecomastia or gonadotropin-independent precocious puberty. It is generally benign although malignant transformation has been described. In pre-pubertal patients conservative management is preferred, with anti sex steroid therapy as needed, to manage secondary sexual characteristics. LCCST can cause replacement obstruction of seminiferous tubules leading to reduce fertility. CNC patients have morphologically reduced sperm and abnormal sperm number. Testicular sparing surgery is often not suitable due to the multifocal nature of the tumour.

Objective and hypotheses: To describe the presentation of LCCST in a peri-pubertal boy.

Method: A 11-year-old boy diagnosed with CNC 1 year previously with multiple lentigineses and blue naevi was referred for endocrine management. He was heterozygous for a known nonsense mutation of the PPKAR1A gene (p.R42). Height was <2nd centile. Bone age was normal. Testicular volume was 4 ml bilaterally, suggesting early pubertal onset. Six months later testicular volume had increased and appeared bulky. Height velocity was 5.6 cm/year (+0.8 SDS).

Results: A 11-year-old boy diagnosed with CNC 1 year previously with multiple lentigineses and blue naevi was referred for endocrine management. He was heterozygous for a known nonsense mutation of the PPKAR1A gene (p.R42). Height was <2nd centile. Bone age was normal. Testicular volume was 4 ml bilaterally, suggesting early pubertal onset. Six months later testicular volume had increased and appeared bulky. Height velocity was 5.6 cm/year (+0.8 SDS).

Conclusion: A 11-year-old boy diagnosed with CNC 1 year previously with multiple lentigineses and blue naevi was referred for endocrine management. He was heterozygous for a known nonsense mutation of the PPKAR1A gene (p.R42). Height was <2nd centile. Bone age was normal. Testicular volume was 4 ml bilaterally, suggesting early pubertal onset. Six months later testicular volume had increased and appeared bulky. Height velocity was 5.6 cm/year (+0.8 SDS).