The spectrum of splenogonadal fusion

Abstract

Splenogonadal fusion is a rare congenital malformation in which there is an abnormal fusion between the spleen and the gonad or derivatives of the mesonephros. It can occur in both sexes but has been reported far more frequently in males. There are two types of this malformation: the continuous and the discontinuous type, depending on the presence or absence of a structural connection between the regular spleen and the ectopic splenic tissue that is fused to the gonad. In one-third of all reported cases splenogonadal fusion is associated with other congenital defects. This association is predominantly found within the continuous type. Peromelia is present in a high percentage of cases, varying from total absence of all limbs to absence of parts of the lower limbs. On the basis of a case report and a review of 84 published cases, the causal, pathogenetic and nosologic aspects of this malformation are discussed. We hypothesise that splenogonadal fusion with peromelia and splenogonadal fusion without peromelia represent two ends of one spectrum determined by the developmental stage during which the causal factor acts.

Splenogonadal fusion: Report of four cases and review of the literature

“…In cases of continuous SGF, ~50% are accompanied by other congenital malformations (7). The incidence rate for continuous SGF is five-fold higher than that of discontinuous SGF and most cases are accompanied by limb defect syndrome (8,9). Bonneau et al (10) reviewed 29 cases of splenogonadal fusion limb defect syndrome (SGFLD), of which 24 cases (82.7%) were continuous SGF, while 70% were associated with micrognathia.…”

Pathogenesis, Diagnosis, and Management of Splenogonadal Fusion: A Literature Review

“…This anomaly concerns almost exclusively the male sex; only 8 cases have been reported in women, [ 7 ] although this incidence is probably underestimated due to the inaccessibility of the ovaries to clinical examination. SGF mainly affects the left gonad between the fifth and sixth weeks of gestation (98% of cases) before the start of gonadal descent [ 8 ]. Note that a single case has been published in animals, more specifically in horses [ 9 ].…”

Amelia of the arms and Femur/Fibula deficiency with splenogonadal fusion in a child born to a consanguineous couple

“…Pauli and Greenlaw [1982] extensively reviewed 14 previous cases of limb deficiency and splenogonadal fusion and added a case of their own. Mandell et al [1983], Gouw et al [1985], Barr [1987], and Tank and Forsythe [19881 added further cases making this the 20th reported case. All but four cases had terminal transverse defects.…”