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Gonadal agenesis

MedGen UID:
181797
•Concept ID:
C0949331
•
Congenital Abnormality
Synonym: Gonadal Agenesis
 
Monarch Initiative: MONDO:0010838
OMIM®: 600171

Definition

A congenital disorder characterized by the complete absence of gonadal tissue. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGonadal agenesis

Professional guidelines

PubMed

Turner syndrome: mechanisms and management.
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.
Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology
Pediatrics 2006 Aug;118(2):e488-500. doi: 10.1542/peds.2006-0738. PMID: 16882788

Recent clinical studies

Etiology

Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B, Achermann JC
Minerva Endocrinol 2010 Jun;35(2):73-86. PMID: 20595937
The influence of age and sex on the metabolism of testosterone.
Zumoff B, Bradlow HL, Finkelstein J, Boyar RM, Hellman L
J Clin Endocrinol Metab 1976 Apr;42(4):703-6. doi: 10.1210/jcem-42-4-703. PMID: 1262444

Diagnosis

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
Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B, Achermann JC
Minerva Endocrinol 2010 Jun;35(2):73-86. PMID: 20595937
The XY gonadal agenesis syndrome.
Sarto GE, Opitz JM
J Med Genet 1973 Sep;10(3):288-93. doi: 10.1136/jmg.10.3.288. PMID: 4774539Free PMC Article
Sex differences in human nuclei with particular reference to the Klinefelter syndrome, gonadal agenesis and other types of hermaphroditism.
NELSON WO
Acta Endocrinol (Copenh) 1956 Nov;23(3):227-45. doi: 10.1530/acta.0.0230227. PMID: 13381386
The webbing syndrome (Ullrich-Turner) with and without gonadal agenesis: chromosomal sex typing by skin cell or leucocyte examination in diagnosis.
RUSSELL A, LEVIN B, WILMERS M
Proc R Soc Med 1955 Apr;48(4):318-20. PMID: 14371598Free PMC Article

Therapy

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
Two cases of 17 alpha-hydroxylase deficiency--one combined with complete gonadal agenesis.
Tvedegaard E, Frederiksen V, Olgaard K, Nielsen MD, Starup J
Acta Endocrinol (Copenh) 1981 Oct;98(2):267-73. doi: 10.1530/acta.0.0980267. PMID: 6270940
An XX female with sexual infantilism, absent gonads, and lack of Müllerian ducts.
Levinson G, Zárate A, Guzmán-Toledano R, Canales ES, Jiménez M
J Med Genet 1976 Feb;13(1):68-9. doi: 10.1136/jmg.13.1.68. PMID: 1271429Free PMC Article
Lack of correlation between gonadotropin and adrenal androgen levels in agonadal children.
Lee PA, Kowarski A, Migeon CJ, Blizzard RM
J Clin Endocrinol Metab 1975 Apr;40(4):664-9. doi: 10.1210/jcem-40-4-664. PMID: 165213
Gynecologic and cytogenetic aspects of gonadal agenesis and dysgenesis.
Barakat BY, Jones HW Jr
Obstet Gynecol 1970 Sep;36(3):368-72. PMID: 5451134

Clinical prediction guides

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
Gonadal agenesis with hypoplastic paramesonephric ducts (PMNDs) derivatives in dizygotic twins.
Miolo G, Del Pup L, Ash A, Manno M, Pivetta B, Tessitori G, Corona G
Gynecol Endocrinol 2016 Oct;32(10):792-795. Epub 2016 Jul 5 doi: 10.1080/09513590.2016.1197199. PMID: 27379817
XX-agonadism in a fetus with multiple dysraphic lesions: a new syndrome.
Kennerknecht I, Mattfeldt T, Paulus W, Nitsch C, Negri G, Barbi G, Just W, Schwemmle S, Vogel W
Am J Med Genet 1997 Jun 27;70(4):413-4. PMID: 9182784
Sexual differentiation of the hypothalamus in gonadal agenesis and testicular feminization.
Mühlenstedt D, Schneider HP
Arch Gynecol 1979 Aug;227(2):97-102. doi: 10.1007/BF02103283. PMID: 485227
The influence of age and sex on the metabolism of testosterone.
Zumoff B, Bradlow HL, Finkelstein J, Boyar RM, Hellman L
J Clin Endocrinol Metab 1976 Apr;42(4):703-6. doi: 10.1210/jcem-42-4-703. PMID: 1262444

Supplemental Content

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed
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      Related literature resources in PubMed

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