Splenogonadal Fusion With Limb Deficiency and Micrognathia

Moore, P. J.; Hawkins, Edith P.; Galliani, Carlos; Guerry-Force, Mary Louise

doi:10.1097/00007611-199711000-00021

Cited by 15 publications

(5 citation statements)

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“…Described for the first time in 1883 by Farthouat et al [ 1 ] The age of the patients is less than 10 years in half of the cases reported, and 82% of the cases occur in young men under the age of 30. [ 2 ] The sex ratio is 15/1 [ 3 ]. It is often associated with other congenital anomalies and poses a problem of differential diagnosis with testicular tumors.…”

Section: Introductionmentioning

confidence: 99%

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

Kadouri

Carnicelli

Sayegh

et al. 2020

Case Reports in Urology

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Introduction. Splenogonadal fusion is a rare congenital anomaly, defined by the presence of ectopic splenic tissue caused by an abnormal connection between the spleen and the gonad or mesonephrotic derivatives during the embryonic period. Materials and Methods. By reporting an observational case and performing a review of the literature according to the CARE guidelines (using the PubMed database and guidelines from urology, general surgery, and pediatric learned societies), we present the embryological genesis of the splenogonadal fusion, the associated anatomical anomalies, and the diagnostic procedure. Observation. We report the case of a patient aged 45, with no notable history, reporting left testicular pain. A small nodule on the upper pole of the left testicular was clinically palpable. Tumor markers were normal, and scrotal ultrasound depicted a hypoechoic hypervascular nodule measuring 8∗6∗8 mm. After validation in a multidisciplinary oncology consultation meeting and opinion from a uro-andrologist expert, the patient underwent an inguinal lumpectomy with an extemporaneous examination which did not objectify any signs of malignancy. Ultimately, it is a normal spleen tissue in the testicular ectopic position. Discussion. Splenogonadal fusion corresponds to a rare congenital malformation; less than 200 cases have been published in the literature, most often affecting boys, with a sex ratio of 15/1. Two types are described, depending on the continuity of the link between the orthotopic spleen and the gonad: the continuous and discontinuous forms. In a third of the cases, there are associated congenital malformations and particularly in the continuous forms (44 to 50% of the cases): anomalies of the limbs, micrognathia, microgyria, and hepatic and digestive abnormalities. Cryptorchidism is associated with the continuous form in 31% of cases. The preoperative diagnosis remains difficult because of its morphological and clinical characteristics suggesting a tumor process.

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Section: Introductionmentioning

confidence: 99%

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

Kadouri

Carnicelli

Sayegh

et al. 2020

Case Reports in Urology

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“…In the former the spleen and splenogonad are connected by a ®brous cord, and it is usually associated with other congenital anomalies. In the latter there is no connection between the spleen and gonad, and other congenital anomalies are often absent [3]. The present case was of the discontinuous type.…”

Section: Commentsmentioning

confidence: 57%

Splenogonadal fusion associated with primary male infertility

Al‐Marhoon¹,

Matthew²,

Nirmala

et al. 2000

BJU International

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A 25-year-old man, married for 4 years, presented with infertility. A physical examination showed normal secondary sexual characteristics, an undescended right testis and a 4r4 cm left testicular mass, with a palpable single left vas deferens. He had no other obvious congenital anomalies. The patient was investigated to exclude left testicular tumour and to locate the right testis. Semen analysis revealed azoospermia, which together with elevated FSH and LH levels, suggested primary testicular failure. Ultrasonography of the left testis showed two fused homogenous solid masses, raising the clinical suspicion of a crossed ectopic testis ( Fig. 1). A complete blood count, electrolytes, creatinine, liver function tests, urine culture and tumour markers (AFP and bhCG, 6 kIU/L and 2 IU/L, respectively) were all normal. CT of the abdomen showed a normal-size spleen in the left hypochondrium, with other normal abdominal viscera and a normal-size right testis lying in the inguinal canal. At exploratory surgery, there was an encapsulated mass arising from the upper pole of the left testis within the tunica albuginea. Frozen-section analysis of the mass was reported as splenic tissue, consistent with splenogonadal fusion. The splenic mass was excised, preserving the left testicular tissue from which a biopsy was taken. Histological examination of the mass con®rmed normal splenic tissue, composed of red and white pulp elements and ®brous capsule (Fig. 2). The left testicular biopsy showed no evidence of spermatogenesis. The right testis was located laparoscopically as a secondstage procedure and this con®rmed an intra-abdominal testis of suf®cient volume at the internal inguinal ring. A right orchidopexy was performed; a right testicular biopsy showed features consistent with postpubertal cryptorchidism and no evidence of malignancy. CommentsThis patient represents a rare case of left splenogonadal fusion with a right undescended testis and associated primary male infertility. To our knowledge, no other case has been reported of an association of splenogonadal fusion with primary male infertility. This congenital

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“…As 5 of the remaining 38 articles did not describe any form of treatment of congenital microgastria, 6,12,15,18,31 33 relevant articles remained for a narrative synthesis of clinical outcome and limited statistical synthesis. In total, 46 patients with congenital microgastria were found, of whom 19 were treated conservatively (►Table 2).…”

Section: Resultsmentioning

confidence: 99%

“…Congenital microgastria is an early defect in the embryological development of the foregut and often associated with other anomalies, the most frequent being anomalies of the spleen and limbs. Both facial dysmorphisms and limb anomalies are often seen in syndromal disorders [5][6][7]9,[15][16][17][18]21,23,26,29,30,[33][34][35][36] ; however, only a few syndromal cases have been reported in the literature, for example, the Pierre Robin sequence. 23,30,33,35 The foregut starts to grow from the level of the pharynx, forming esophageal and gastric precursors as well as the lungs.…”

Section: Discussionmentioning

confidence: 99%

Treatment of Congenital Microgastria

et al. 2020

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Introduction Congenital microgastria is an extremely rare birth defect. The aim of this study was to present an overview of existing literature on the treatment of microgastria. Materials and Methods The term “microgastria” was used in a PubMed and Medline search. Since merely case reports were found, only a narrative synthesis with limited statistical analysis can be given. Data of different treatment modalities were collected and divided into two groups: conservative or less invasive treatment (C/LT, i.e., modified diet or a gastrostomy/jejunostomy) and extensive gastric surgery (EGS, i.e., Hunt–Lawrence pouch or total esophageal gastric dissociation). Clinical outcome parameters (nutrition, growth pattern, and mortality) were compared. Results Out of 73 articles published from 1973 to 2019, 38 articles describing 51 cases were included. In four patients, microgastria was an isolated anomaly (8%). Type of treatment was described in only 46 patients, 19 were treated by C/LT. Mortality was 9/19 (47%) in the C/LT group versus 4/27 (15%) in the EGS group (chi-square = 5.829, p = 0.016, Fisher = 0.022). There was a negative correlation between the invasiveness of the treatment and both mortality (r = −0.356, p = 0.015) and comorbidity (r = −0.506, p <0.001). Patients in the C/LT group had significantly more comorbidity than in the EGS group (mean = 4.32 vs. 2.26, p = 0.001). There was a positive correlation between comorbidity and mortality (r = 0.400, p = 0.006). Median follow-up was 42 months (range: 1–240). Type and way of nutrition were poorly described. In at least 9 of the 33 surviving patients, oral feeding was reported as normal, of whom 8 belonged to the EGS group. In all patients, growth could be acknowledged, but in comparison to peers, final body length was less. There was no difference in final body length between the two treatment groups. Conclusion In patients with congenital microgastria, only minimal differences in clinical outcome in terms of type of nutrition and body growth were found when C/LT was compared with treatment by EGS. Mortality was significantly higher in the first group as well as the amount of comorbidities.

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Splenogonadal Fusion With Limb Deficiency and Micrognathia

Cited by 15 publications

References 0 publications

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

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

Splenogonadal fusion associated with primary male infertility

Treatment of Congenital Microgastria

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