Splenogonadal fusion

Last updated
Splenogonadal fusion
Splenogonadal fusion.JPG
Intra-operative gross photograph of the spleen attached to the left testis in a 1-year old boy with splenogonadal fusion

Splenogonadal fusion is a rare congenital malformation that results from an abnormal connection between the primitive spleen and gonad during gestation. A portion of the splenic tissue then descends with the gonad. Splenogonadal fusion has been classified into two types: continuous, where there remains a connection between the main spleen and gonad; and discontinuous, where ectopic splenic tissue is attached to the gonad, but there is no connection to the orthotopic spleen. Patients can also have an accessory spleen. Patients with continuous splenogonadal fusion frequently have additional congenital abnormalities including limb defects, micrognathia, skull anomalies, Spina bifida, cardiac defects, anorectal abnormalities, and most commonly cryptorchidism. [1] Terminal limb defects have been documented in at least 25 cases which makes up a separate diagnosis of splenogonadal fusion limb defect (SGFLD) syndrome.

Contents

The anomaly was first described in 1883 by Bostroem. [2] Since then more than 150 cases of splenogonadal fusion have been documented, predominantly in males. [3] The condition is considered benign. [4] A few cases of testicular neoplasm have been reported in association with splenogonadal fusion. [5] [6] The reported cases have occurred in patients with a history of cryptorchidism, which is associated with an elevated risk of neoplasm. [6]

Splenogonadal fusion occurs with a male-to-female ratio of 16:1, and is seen nearly exclusively on the left side. [3] The condition remains a diagnostic challenge, but preoperative consideration of the diagnosis and use of ultrasound may help avoid unnecessary orchiectomy. The presence of splenic tissue may be confirmed with a technetium-99m sulfur colloid scan. [7]

Classification

Left testis in scrotal position with adherent accessory spleen. Cureus-0012-00000009017-i03.jpg
Left testis in scrotal position with adherent accessory spleen.

Splenogonadal fusion is separated into two types:

ContinuousDiscontinuous
Frequency55%45%
Associated malformationsCommonUncommon
ImagingPossible visualization of connecting cord between native spleen and gonadNo identifiable link between native spleen and gonad
Technetium-99m ScintigraphyRadioactive tracer uptake in mass equivalent to uptake in normal splenic tissueRadioactive tracer uptake in mass equivalent to uptake in normal splenic tissue

Pathogenesis

The cause of splenogonadal fusion is still unclear, and there are several proposed mechanisms. A developmental field defect that occurs during blastogenesis is the current explanation of pathogenesis. The spleen derives from mesenchymal tissue and an inappropriate fusion can happen between the gonadal ridge during gut rotation, which occurs between weeks 5 and 8 of fetal life. [8] Splenogonadal fusion may result from an unknown teratogenic insult. The timing of this insult may correlate to the severity of associated defects. There is also postulation that fusion may occur due to adhesion after an inflammatory response or a lack of apoptosis between the structures. Siblings documented to have splenogonadal fusion and an accessory spleen provides additional evidence of a possible genetic component. [8]

Associated Conditions

Additional congenital abnormalities are most often found associated with the continuous type of splenogonadal fusion. These abnormalities include micrognathia, macroglossia, anal atresia, and pulmonary hypoplasia. [9] The most commonly associated malformation is cryptorchidism. When limb abnormalities occur, Splenogonadal Fusion with Limb Defects is made as a separate diagnosis. Splenogonadal Fusion with Limb Defects is also of unknown cause but some literature suggests that the condition may be related to Hanhart syndrome and facial femoral syndrome. [9] Splenogonadal fusion has also been identified in infants with Möbius syndrome and Poland syndrome. [10]

Diagnosis

Diagnosis can be challenging pre-operatively, as patients are commonly asymptomatic. Physical examination can aid in diagnosis if the mass is palpated, but further confirmatory tests are necessary. Females are reportedly less affected by splenogonadal fusion, though it is possible that the condition is underdiagnosed due to the difficulty of internal gonad examination in females. [8] On scrotal ultrasound, ectopic splenic tissue may appear as an encapsulated homogeneous extratesticular mass, isoechoic with the normal testis. Subtle hypoechoic nodules may be present in the mass. [7] Limitations of doppler ultrasonography include visualizing the nonspecific paratesticular masses which can mimic malignancies such as rhabdomyosarcoma or embryonal sarcoma. [11] Technetium-99m sulfur colloid scan is sensitive to target the liver, spleen, and bone marrow, therefore the scans can be used to identify ectopic splenic tissue when clinical suspicion is high. [12] When technetium-99m sulfur colloid scans are not included in a patient's diagnostic workup, the diagnosis is often not made until the surgeon performs an abdominal exploration using laparoscopy which can visualize the splenic tissue grossly. Evaluation by biopsy including frozen section procedure is confirmatory for splenogonadal fusion. Histological examination will show normal splenic tissue which is made up of red and white pulp. [13] Many people with splenogonadal fusion go undiagnosed without complication during their lifetime. Many cases have been diagnosed at autopsy or incidentally after orchiectomy. [8]

Treatment

Treatment remains controversial given the benign nature of splenogonadal fusion. Splenogonadal fusion does not have known clinical manifestations that require intervention. Clinical observation is considered when the mass is diagnosed pre-operatively. Surgery is often required to confirm the diagnosis and exclude a mimic of a malignant mass. Surgical approach should attempt to divide the mass and the gonad at the connecting plane for removal of the splenic tissue. Orchiectomy is generally not indicated. Causality between splenogonadal fusion and future malignant transformation has not been established, but literature has highlighted infrequent cases of testicular neoplasms and splenogonadal fusion. These cases were found in patients who also had a history of cryptorchidism, which is a known risk factor for testicular cancer. [14]

See also

Related Research Articles

<span class="mw-page-title-main">Testicular torsion</span> Medical condition

Testicular torsion occurs when the spermatic cord twists, cutting off the blood supply to the testicle. The most common symptom in children is sudden, severe testicular pain. The testicle may be higher than usual in the scrotum and vomiting may occur. In newborns, pain is often absent and instead the scrotum may become discolored or the testicle may disappear from its usual place.

<span class="mw-page-title-main">Testicular cancer</span> Medical condition

Testicular cancer is cancer that develops in the testicles, a part of the male reproductive system. Symptoms may include a lump in the testicle or swelling or pain in the scrotum. Treatment may result in infertility.

<span class="mw-page-title-main">Cryptorchidism</span> Failure of the testicle(s) to descend into the scrotum

Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into the scrotum. The word is from Ancient Greek κρυπτός (kryptos) 'hidden' and ὄρχις (orchis) 'testicle'. It is the most common birth defect of the male genital tract. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life, making the true incidence of cryptorchidism around 1% overall. Cryptorchidism may develop after infancy, sometimes as late as young adulthood, but that is exceptional.

<span class="mw-page-title-main">Persistent Müllerian duct syndrome</span> Medical condition

Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives in what would be considered a genetically and otherwise physically normal male animal by typical human based standards. In humans, PMDS typically is due to an autosomal recessive congenital disorder and is considered by some to be a form of pseudohermaphroditism due to the presence of Müllerian derivatives. PMDS can also present in non-human animals.

<span class="mw-page-title-main">Testicular atrophy</span> Reduction in the size and function of the testicles

Testicular atrophy is a medical condition in which one or both testicles diminish in size and may be accompanied by reduced testicular function. Testicular atrophy is not related to the temporary shrinkage of the surrounding scrotum, which might occur in response to cold temperature.

<span class="mw-page-title-main">Primrose syndrome</span> Medical condition

Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities. It was first described in 1982 in Scotland's Royal National Larbert Institution by Dr D.A.A. Primrose.

Malouf syndrome is a congenital disorder that causes one or more of the following symptoms: intellectual disability, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus.

<span class="mw-page-title-main">Hematocele</span> Medical condition

A hematocele is a collections of blood in a body cavity or potential space. The term most commonly refers to the collection of blood in the tunica vaginalis around the testes, known as a scrotal hematocele. Hematoceles can also occur in the abdominal cavity and other body cavities. Hematoceles are rare, making them harder to diagnose and treat. They are very common especially as slowly growing masses in the scrotum usually in men older than 50 years.

<span class="mw-page-title-main">Small supernumerary marker chromosome</span> Abnormal partial or mixed chromosome

A small supernumerary marker chromosome (sSMC) is an abnormal extra chromosome. It contains copies of parts of one or more normal chromosomes and like normal chromosomes is located in the cell's nucleus, is replicated and distributed into each daughter cell during cell division, and typically has genes which may be expressed. However, it may also be active in causing birth defects and neoplasms. The sSMC's small size makes it virtually undetectable using classical cytogenetic methods: the far larger DNA and gene content of the cell's normal chromosomes obscures those of the sSMC. Newer molecular techniques such as fluorescence in situ hybridization, next generation sequencing, comparative genomic hybridization, and highly specialized cytogenetic G banding analyses are required to study it. Using these methods, the DNA sequences and genes in sSMCs are identified and help define as well as explain any effect(s) it may have on individuals.

<span class="mw-page-title-main">Hamartoma</span> Tumour-like overgrowth due to a systemic genetic condition

A hamartoma is a mostly benign, local malformation of cells that resembles a neoplasm of local tissue but is usually due to an overgrowth of multiple aberrant cells, with a basis in a systemic genetic condition, rather than a growth descended from a single mutated cell (monoclonality), as would typically define a benign neoplasm/tumor. Despite this, many hamartomas are found to have clonal chromosomal aberrations that are acquired through somatic mutations, and on this basis the term hamartoma is sometimes considered synonymous with neoplasm. Hamartomas are by definition benign, slow-growing or self-limiting, though the underlying condition may still predispose the individual towards malignancies.

<span class="mw-page-title-main">Spigelian hernia</span> Surgical condition

A Spigelian is the type of ventral hernia where aponeurotic fascia pushes through a hole in the junction of the linea semilunaris and the arcuate line, creating a bulge. It appears in the lower quadrant of the abdomen between an area of dense fibrous tissue and abdominal wall muscles causing a.

<span class="mw-page-title-main">Accessory spleen</span> Small nodule found apart from the main body of the spleen

An accessory spleen is a small nodule of splenic tissue found apart from the main body of the spleen. Accessory spleens are found in approximately 10 percent of the population and are typically around 1 centimetre in diameter. They may resemble a lymph node or a small spleen. They form either by the result of developmental anomalies or trauma. They are medically significant in that they may result in interpretation errors in diagnostic imaging or continued symptoms after therapeutic splenectomy. Polysplenia is the presence of multiple accessory spleens rather than one normal spleen.

<span class="mw-page-title-main">Hanhart syndrome</span> Class of congenital medical conditions

Hanhart syndrome is a broadly classified medical condition consisting of congenital disorders that cause an undeveloped tongue and malformed extremities and fingers. There exist five types of Hanhart syndrome, with the severity and nature of the condition ranging widely on a case-by-case basis. Hanhart syndrome is classified as a rare disease, with approximately 30 known cases having been reported between 1932 and 1991. Early hypotheses believed that the disorder was caused by genetic conditions, with a more recent hypothesis demonstrating that the disorder may be caused by hemorrhagic lesions during prenatal development. The causal mechanism behind this vascular disruption is still unknown.

Sarcoidosis is a systemic disease of unknown cause that results in the formation of non-caseating granulomas in multiple organs. The prevalence is higher among black males than white males by a ratio of 20:1. Usually the disease is localized to the chest, but urogenital involvement is found in 0.2% of clinically diagnosed cases and 5% of those diagnosed at necropsy. The kidney is the most frequently affected urogenital organ, followed in men by the epididymis. Testicular sarcoidosis can present as a diffuse painless scrotal mass or can mimic acute epididymo-orchitis. Usually it appears with systemic manifestations of the disease. Since it causes occlusion and fibrosis of the ductus epididymis, fertility may be affected. On ultrasound, the hypoechogenicity and ‘infiltrative’ pattern seen in the present case are recognized features. Opinions differ on the need for histological proof, with reports of limited biopsy and frozen section, radical orchiectomy in unilateral disease and unilateral orchiectomy in bilateral disease. The peak incidence of sarcoidosis and testicular neoplasia coincide at 20–40 years and this is why most patients end up having an orchiectomy. However, testicular tumours are much more common in white men, less than 3.5% of all testicular tumours being found in black men. These racial variations justify a more conservative approach in patients of Afro-Caribbean descent with proven sarcoidosis elsewhere. Careful follow-up and ultrasonic surveillance may be preferable in certain clinical settings to biopsy and surgery, especially in patients with bilateral testicular disease.

<span class="mw-page-title-main">Roberts syndrome</span> Medical condition

Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.

<span class="mw-page-title-main">Orchiectomy</span> Surgical removal of one or both testicles

Orchiectomy is a surgical procedure in which one or both testicles are removed. The surgery can be performed for various reasons:

<span class="mw-page-title-main">Scrotal ultrasound</span> Medical ultrasound examination of the scrotum.

Scrotalultrasound is a medical ultrasound examination of the scrotum. It is used in the evaluation of testicular pain, and can help identify solid masses.

Gonadotropin-releasing hormone (GnRH) insensitivity also known as Isolated gonadotropin-releasing hormone (GnRH)deficiency (IGD) is a rare autosomal recessive genetic and endocrine syndrome which is characterized by inactivating mutations of the gonadotropin-releasing hormone receptor (GnRHR) and thus an insensitivity of the receptor to gonadotropin-releasing hormone (GnRH), resulting in a partial or complete loss of the ability of the gonads to synthesize the sex hormones. The condition manifests itself as isolated hypogonadotropic hypogonadism (IHH), presenting with symptoms such as delayed, reduced, or absent puberty, low or complete lack of libido, and infertility, and is the predominant cause of IHH when it does not present alongside anosmia.

Testicular dysgenesis syndrome (TDS) is a male reproduction-related condition characterized by the presence of symptoms and disorders such as hypospadias, cryptorchidism, poor semen quality, and testicular cancer. The concept was first introduced by N.E. Skakkebæk in a research paper along with the department of Growth and Reproduction in Copenhagen University. The paper suggests the origin and underlying cause of TDS can be detected as early as in fetal life, where environmental and genomic factors could affect the development of the male reproductive system.

Splenogonadal fusion-limb defects-micrognathia syndrome, also known by its abbreviation, SGFLD syndrome, is a rare genetic disorder characterized by abnormal fusion of the spleen and the gonad alongside limb defects and orofacial anomalies. It is a type of syndromic dysostosis.

References

  1. ↑ Kocher, NJ; Tomaszewski, JJ; Parsons, RB; Cronson, BR; Altman, H; Kutikov, A (Jan 2014). "Splenogonadal fusion: a rare etiology of solid testicular mass". Urology. 83 (1): e1-2. doi: 10.1016/j.urology.2013.09.019 . PMID   24200197.
  2. ↑ Khairat, AB; Ismail, AM (Aug 2005). "Splenogonadal fusion: case presentation and literature review". Journal of Pediatric Surgery. 40 (8): 1357–60. doi:10.1016/j.jpedsurg.2005.05.027. PMID   16080949.
  3. 1 2 Varma, DR; Sirineni, GR; Rao, MV; Pottala, KM; Mallipudi, BV (Sep 2007). "Sonographic and CT features of splenogonadal fusion". Pediatric Radiology. 37 (9): 916–9. doi:10.1007/s00247-007-0526-x. PMID   17581747. S2CID   27596524.
  4. ↑ Lin, CS; Lazarowicz, JL; Allan, RW; Maclennan, GT (Jul 2010). "Splenogonadal fusion". The Journal of Urology. 184 (1): 332–3. doi:10.1016/j.juro.2010.04.013. PMID   20488470.
  5. ↑ Imperial, SL; Sidhu, JS (Oct 2002). "Nonseminomatous germ cell tumor arising in splenogonadal fusion". Archives of Pathology & Laboratory Medicine. 126 (10): 1222–5. doi:10.5858/2002-126-1222-NGCTAI. PMID   12296764.
  6. 1 2 Lopes RI, de Medeiros MT, Arap MA, Cocuzza M, Srougi M, Hallak J (Jan–Mar 2012). "Splenogonadal fusion and testicular cancer: case report and review of the literature". Einstein (Sao Paulo, Brazil). 10 (1): 92–5. doi: 10.1590/s1679-45082012000100019 . PMID   23045834.
  7. 1 2 Guarin, U; Dimitrieva, Z; Ashley, SJ (Oct 1975). "Splenogonadal fusion-a rare congenital anomaly demonstrated by 99Tc-sulfur colloid imaging: case report". Journal of Nuclear Medicine. 16 (10): 922–4. PMID   240914.
  8. 1 2 3 4 Chiaramonte, C; Siracusa, F; Li Voti, G (March 2014). "Splenogonadal Fusion: A Genetic Disorder?-Report of a Case and Review of the Literature". Urology Case Reports. 2 (2): 67–9. doi:10.1016/j.eucr.2014.01.003. PMC   4733014 . PMID   26952691.
  9. 1 2 McPherson, F; Frias, JL; Spicer, D; Opitz, JM; Gilbert-Barness, EF (1 August 2003). "Splenogonadal fusion-limb defect "syndrome" and associated malformations". American Journal of Medical Genetics. Part A. 120A (4): 518–22. doi:10.1002/ajmg.a.10728. PMID   12884431. S2CID   40127231.
  10. ↑ Cabrera Viteri, MI; Acosta Farina, D; Morales Mayorga, H; Cabrera Johnson, M; Albán Castro, S (1 October 2021). "Splenogonadal fusion associated with Moebius and Poland syndromes: first case reported". Cirugia Pediatrica. 34 (4): 219–222. PMID   34606704.
  11. ↑ Akbar, SA; Sayyed, TA; Jafri, SZ; Hasteh, F; Neill, JS (November 2003). "Multimodality imaging of paratesticular neoplasms and their rare mimics". Radiographics. 23 (6): 1461–76. doi:10.1148/rg.236025174. PMID   14615558.
  12. ↑ Daghas, FA; Asiri, JA; Hassine, H; Ibrahim Aamry, A (March 2022). "99mTc-Sulfur Colloid SPECT/CT in Diagnosis of Splenogonadal Fusion". Journal of Nuclear Medicine Technology. 50 (1): 75–77. doi: 10.2967/jnmt.121.262233 . PMID   34750231. S2CID   243862063.
  13. ↑ Fadel, MG; Walters, U; Smith, A; Bedi, N; Davies, C; Brock, C; Dinneen, M (19 March 2021). "Splenogonadal fusion: aiding detection and avoiding radical orchidectomy". Annals of the Royal College of Surgeons of England. 104 (2): e32–e34. doi:10.1308/rcsann.2021.0080. PMC   10335196 . PMID   33739169. S2CID   232298023.
  14. ↑ Kadouri, Y; Carnicelli, D; Sayegh, HE; Benslimane, L; Nouini, Y (2020). "Pathogenesis, Diagnosis, and Management of Splenogonadal Fusion: A Literature Review". Case Reports in Urology. 2020: 8876219. doi: 10.1155/2020/8876219 . PMC   7568155 . PMID   33101755.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.