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Gonadoblastoma(GBY)

MedGen UID:
104912
Concept ID:
C0206661
Neoplastic Process
Synonym: GBY
SNOMED CT: GBY - Gonadoblastoma (74751003); Gonadoblastoma (74751003); Gonocytoma (74751003); Gonadoblastoma (1162858007)
 
HPO: HP:0000150
Monarch Initiative: MONDO:0010768
OMIM®: 424500

Definition

The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. [from HPO]

Clinical features

From HPO
Gonadoblastoma
MedGen UID:
104912
Concept ID:
C0206661
Neoplastic Process
The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGonadoblastoma
Follow this link to review classifications for Gonadoblastoma in Orphanet.

Conditions with this feature

Beckwith-Wiedemann syndrome
MedGen UID:
2562
Concept ID:
C0004903
Disease or Syndrome
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues.
11p partial monosomy syndrome
MedGen UID:
64512
Concept ID:
C0206115
Disease or Syndrome
PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral problems.
Gonadoblastoma
MedGen UID:
104912
Concept ID:
C0206661
Neoplastic Process
The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
46,XY sex reversal 7
MedGen UID:
383876
Concept ID:
C1856273
Congenital Abnormality
46,XY sex reversal 1
MedGen UID:
412662
Concept ID:
C2748896
Disease or Syndrome
Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.
46,XY sex reversal 6
MedGen UID:
462414
Concept ID:
C3151064
Disease or Syndrome
46,XY sex reversal 10
MedGen UID:
897538
Concept ID:
C4225331
Disease or Syndrome
46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see 163950) (summary by Mann et al., 1983). For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044).

Professional guidelines

PubMed

Chen J, Guo M, Luo M, Deng S, Tian Q
Gynecol Endocrinol 2021 Aug;37(8):730-734. Epub 2021 Apr 19 doi: 10.1080/09513590.2021.1911992. PMID: 33870841
Colindres JV, Axelrad M, McCullough L, Smith EO, Huang GO, Tu DD, Bercaw-Pratt JL, Cheni MJ, Mendiratta M, Gunn S, Sutton R, Macias C, Karaviti LP
Pediatr Endocrinol Rev 2016 Mar;13(3):585-601. PMID: 27116846
Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F; PodoNet Consortium
Kidney Int 2014 May;85(5):1169-78. Epub 2014 Jan 8 doi: 10.1038/ki.2013.519. PMID: 24402088

Recent clinical studies

Therapy

Kollios K, Karipiadou A, Papagianni M, Traeger-Synodinos J, Kosta K, Savvidou P, Stabouli S, Roilides E
J Pediatr Hematol Oncol 2022 Nov 1;44(8):471-473. Epub 2022 Jun 8 doi: 10.1097/MPH.0000000000002501. PMID: 35700406
Matsumoto F, Matsuyama S, Matsui F, Yazawa K, Matsuoka K
Urology 2020 Mar;137:157-160. Epub 2019 Dec 27 doi: 10.1016/j.urology.2019.12.014. PMID: 31883875
Huang YC, Lee CT, Wu MZ, Liu SY, Tung YC, Ho HN, Tsai WY
J Formos Med Assoc 2019 Jan;118(1 Pt 3):450-456. Epub 2018 Jul 14 doi: 10.1016/j.jfma.2018.07.003. PMID: 30017534
Sigismondi C, Scollo P, Ferrandina G, Candiani M, Angioli R, Viganò R, Scarfone G, Mangili G
Int J Gynecol Cancer 2015 Feb;25(2):203-7. doi: 10.1097/IGC.0000000000000358. PMID: 25569816
Andrés MM, Costa E, Cañete A, Moreno L, Castel V
Clin Transl Oncol 2010 Apr;12(4):287-91. doi: 10.1007/s12094-010-0505-9. PMID: 20462838

Prognosis

Huang YN, Chen SC, Chen JC, Liu KW, Chiang SL, Bau DT, Su PH, Wang CH
Anticancer Res 2023 Nov;43(11):5073-5081. doi: 10.21873/anticanres.16707. PMID: 37909967
Faure A, Bouty A, O'Brien M, Thorup J, Hutson J, Heloury Y
Nat Rev Urol 2016 Mar;13(3):141-50. Epub 2016 Jan 20 doi: 10.1038/nrurol.2015.312. PMID: 26787392
van der Zwan YG, Biermann K, Wolffenbuttel KP, Cools M, Looijenga LH
Eur Urol 2015 Apr;67(4):692-701. Epub 2014 Sep 18 doi: 10.1016/j.eururo.2014.07.011. PMID: 25240975
Looijenga LH
Pediatr Endocrinol Rev 2014 Feb;11 Suppl 2:251-62. PMID: 24683949
Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F; PodoNet Consortium
Kidney Int 2014 May;85(5):1169-78. Epub 2014 Jan 8 doi: 10.1038/ki.2013.519. PMID: 24402088

Clinical prediction guides

Huang YN, Chen SC, Chen JC, Liu KW, Chiang SL, Bau DT, Su PH, Wang CH
Anticancer Res 2023 Nov;43(11):5073-5081. doi: 10.21873/anticanres.16707. PMID: 37909967
Pęksa R, Kunc M, Bieńkowski M, Popęda M, Biernat W
Pol J Pathol 2022;73(2):159-165. doi: 10.5114/pjp.2022.120098. PMID: 36345953
Faure A, Bouty A, O'Brien M, Thorup J, Hutson J, Heloury Y
Nat Rev Urol 2016 Mar;13(3):141-50. Epub 2016 Jan 20 doi: 10.1038/nrurol.2015.312. PMID: 26787392
Kido T, Lau YF
Asian J Androl 2015 May-Jun;17(3):373-80. doi: 10.4103/1008-682X.150842. PMID: 25814157Free PMC Article
Niaudet P, Gubler MC
Pediatr Nephrol 2006 Nov;21(11):1653-60. Epub 2006 Aug 23 doi: 10.1007/s00467-006-0208-1. PMID: 16927106

Recent systematic reviews

Morin J, Peard L, Vanadurongvan T, Walker J, Dönmez Mİ, Saltzman AF
J Pediatr Urol 2020 Oct;16(5):576-582. Epub 2020 May 23 doi: 10.1016/j.jpurol.2020.05.002. PMID: 32564942
Piazza MJ, Urbanetz AA
Clinics (Sao Paulo) 2019;74:e408. Epub 2019 Nov 11 doi: 10.6061/clinics/2019/e408. PMID: 31721911Free PMC Article

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