Splenogonadal fusion associated with delayed skeletal maturation : a case report and review of the literature

Abstract

In this report of a 13-year old boy, we describe the first case of splenogonadal fusion (SGF) associated with growth hormone deficiency, delayed skeletal maturation and stunting, and provide a review of the literature on SGF based on a search in major medical indexes using the descriptors “splenogonadal”, “splenogonadal fusion” and “congenital anomalies of the spleen”. Predominant in males (15:1), SGF is a rare congenital anomaly with only around 200 cases described involving the presence of splenic tissue in the gonads and, in some cases, a fibrous cord connecting the two structures. SGF may be associated with severe limb anomalies, micrognathism and testicle cancer. Despite frequently increased testicle volume, the condition is usually asymptomatic. Knowledge of SGF is important in the differential diagnosis of malignancies, avoiding unnecessary orchiectomy. Nevertheless, SGF has been observed in association with malignant tumors, especially in patients with cryptorchidism.