U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Streak gonad

MedGen UID:
452347
•Concept ID:
C0266360
•
Congenital Abnormality
Synonym: Streak gonads
SNOMED CT: Streak gonad (84814009)
 
HPO: HP:0025733

Definition

A type of gonadal dysgenesis in which the gonadal tissue is underdeveloped and appears as fibrous, streak-like structures instead of fully formed ovaries or testes. [from HPO]

Professional guidelines

PubMed

Diagnosis and treatment of the intra-abdominal gonad in the pediatric population: Testes, ovaries, dysgenetic gonads, streaks, and ovotestes.
de la Calle CM, Kim S, Baskin LS
J Pediatr Surg 2020 Nov;55(11):2480-2491. Epub 2020 Feb 19 doi: 10.1016/j.jpedsurg.2020.02.014. PMID: 32164982
Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.
Farrugia MK, Sebire NJ, Achermann JC, Eisawi A, Duffy PG, Mushtaq I
J Pediatr Urol 2013 Apr;9(2):139-44. Epub 2012 Jan 26 doi: 10.1016/j.jpurol.2011.12.012. PMID: 22281282Free PMC Article
Treatment of congenital anomalies in girls and women.
Baramki TA
J Reprod Med 1984 Jun;29(6):376-84. PMID: 6747970

Recent clinical studies

Etiology

Spontaneous Pubertal Onset in a Male Patient With Mixed Gonadal Dysgenesis With Mosaicism 45,X/ 46, X, mar (Y)/ 47,X,mar(Y),+mar(Y) - Pediatric Case Report.
Wilke MVMB, Costa EC, Leite JCL, Lucena IRS, Hemesath TP, Carvalho CG, Riegel M, Guaragna-Filho G
Urology 2021 Dec;158:204-207. Epub 2021 Aug 23 doi: 10.1016/j.urology.2021.08.018. PMID: 34437894
Ovarian Dysgerminoma: A Tertiary Center Experience.
Kilic C, Cakir C, Yuksel D, Kilic F, Kayikcioglu F, Koc S, Korkmaz V, Kimyon Comert G, Turkmen O, Boran N, Turan T
J Adolesc Young Adult Oncol 2021 Jun;10(3):303-308. Epub 2020 Aug 5 doi: 10.1089/jayao.2020.0087. PMID: 32762565
The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?
Ocal G, Berberoğlu M, Sıklar Z, Ruhi HI, Tükün A, Camtosun E, Savaş Erdeve S, Hacıhamdioğlu B, Fitöz S
Eur J Pediatr 2012 Oct;171(10):1497-502. Epub 2012 May 30 doi: 10.1007/s00431-012-1754-0. PMID: 22644991
Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis.
Alvarez-Nava F, Soto M, Borjas L, Ortiz R, Rojas A, Martínez S, Revol A, Barrera H, Alvarez Z
Ann Genet 2001 Jul-Sep;44(3):155-9. doi: 10.1016/s0003-3995(01)01081-4. PMID: 11694229
Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases.
Moorthy AV, Chesney RW, Lubinsky M
Am J Med Genet Suppl 1987;3:297-302. doi: 10.1002/ajmg.1320280535. PMID: 3130865

Diagnosis

Ovarian Dysgerminoma: A Tertiary Center Experience.
Kilic C, Cakir C, Yuksel D, Kilic F, Kayikcioglu F, Koc S, Korkmaz V, Kimyon Comert G, Turkmen O, Boran N, Turan T
J Adolesc Young Adult Oncol 2021 Jun;10(3):303-308. Epub 2020 Aug 5 doi: 10.1089/jayao.2020.0087. PMID: 32762565
45,X streak gonad syndrome associated with bilateral 'burnt out' gonadoblastoma.
Bösze P, Magyar E, Tóth A, László J
Gynecol Obstet Invest 1989;28(3):113-7. doi: 10.1159/000293544. PMID: 2680804
Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases.
Moorthy AV, Chesney RW, Lubinsky M
Am J Med Genet Suppl 1987;3:297-302. doi: 10.1002/ajmg.1320280535. PMID: 3130865
Chromosomes and the gynecologist.
van Niekerk WA
Am J Obstet Gynecol 1978 Apr 15;130(8):862-75. doi: 10.1016/0002-9378(78)90263-6. PMID: 345819
Testicular dysgenesis syndromes.
Jirásek JE
Birth Defects Orig Artic Ser 1971 May;7(6):159-65. PMID: 5173158

Therapy

Disorder of sex development with germ cell tumors: Which is uncovered first?
Faure-Conter C, Orbach D, Fresneau B, Verité C, Bonneau J, Thebaud E, Poirée M, Thouvenin S, Pluchart C, Mure PY, Dijoud F, Morel Y
Pediatr Blood Cancer 2020 Apr;67(4):e28169. Epub 2020 Feb 4 doi: 10.1002/pbc.28169. PMID: 32020769
Variation of Gonadal Dysgenesis and Tumor Risk in Patients With 45,X/46,XY Mosaicism.
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
The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center.
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
Unexpected outcome in a treated XY reversal syndrome patient.
Fenzl V, Duić Z, Popić-Ramac J, Skrtić A
Acta Clin Croat 2011 Dec;50(4):603-7. PMID: 22649894
Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases.
Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T
J Clin Endocrinol Metab 2000 Sep;85(9):3094-100. doi: 10.1210/jcem.85.9.6771. PMID: 10999792

Prognosis

Variation of Gonadal Dysgenesis and Tumor Risk in Patients With 45,X/46,XY Mosaicism.
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
Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development.
Şimşek E, Binay Ç, Demiral M, Tokar B, Kabukçuoğlu S, Üstün M
J Clin Res Pediatr Endocrinol 2016 Sep 1;8(3):351-5. Epub 2016 Apr 18 doi: 10.4274/jcrpe.2705. PMID: 27087521Free PMC Article
Polycystic ovary and gonadoblastoma in Turner's syndrome.
Maggio MC, Liotta A, De Grazia E, Cimador M, Di Pace R, Corsello G
Minerva Pediatr 2007 Aug;59(4):397-401. PMID: 17947845
Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome.
Miyoshi Y, Santo Y, Tachikawa K, Namba N, Hirai H, Mushiake S, Nakajima S, Michigami T, Ozono K
Endocr J 2006 Jun;53(3):371-6. Epub 2006 May 23 doi: 10.1507/endocrj.k05-180. PMID: 16717397
A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity.
Haning RV Jr, Chesney RW, Moorthy AV, Gilbert EF
Am J Kidney Dis 1985 Jul;6(1):40-8. doi: 10.1016/s0272-6386(85)80036-6. PMID: 3895900

Clinical prediction guides

A 46,XY female with mixed gonadal dysgenesis and a 48,XY, +7, +i(12p) chromosome pattern in a primary gonadal tumor.
Hamers A, de Jong B, Suijkerbuijk RF, Geurts van Kessel A, Oosterhuis JW, van Echten J, Evers J, Bosman F
Cancer Genet Cytogenet 1991 Dec;57(2):219-24. doi: 10.1016/0165-4608(91)90155-n. PMID: 1756501
45,XO/46,X,dic(Yq) mosaicism in Turner's phenotype with endodermal sinus tumor of the ovary.
Ono T, Sakai N, Hayashi Y, Saito M, Kawagoe S, Hiroi M
Gynecol Obstet Invest 1989;27(1):45-7. doi: 10.1159/000293615. PMID: 2920974
Gonadoblastoma. Immunohistochemical and ultrastructural observations.
Roth LM, Eglen DE
Int J Gynecol Pathol 1989;8(1):72-81. doi: 10.1097/00004347-198903000-00009. PMID: 2707955
Aberrant testicular differentiation in 46,XY gonadal dysgenesis: morphology, endocrinology, serology.
Wolman SR, McMorrow LE, Roy S, Koo GC, Wachtel SS, David R
Hum Genet 1980;55(3):321-5. doi: 10.1007/BF00290211. PMID: 7203465
Testicular dysgenesis syndromes.
Jirásek JE
Birth Defects Orig Artic Ser 1971 May;7(6):159-65. PMID: 5173158

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...