U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Agonadism

MedGen UID:
899272
•Concept ID:
C2118097
•
Disease or Syndrome
Synonyms: Absent gonadal tissue; Gonadal agenesis
 
HPO: HP:0008633

Definition

Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). [from HPO]

Conditions with this feature

46,XY sex reversal 4
MedGen UID:
416704
•Concept ID:
C2752149
•
Congenital Abnormality
Sex reversal in an individual associated with a 9p24.3 deletion.
See: Condition Record
Seckel syndrome 9
MedGen UID:
907155
•Concept ID:
C4225212
•
Disease or Syndrome
Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.
See: Condition Record
46,XY sex reversal 4
Seckel syndrome 9

Recent clinical studies

Etiology

Hypoplastic left heart syndrome in PAGOD syndrome.
Takahashi K, Miyake A, Nakayashiro M
Pediatr Int 2014 Jun;56(3):422-4. doi: 10.1111/ped.12280. PMID: 24894929
Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: a new autosomal recessive syndrome.
Kennerknecht I, von Saurma P, Brenner R, Just W, Barbi G, Sorgo W, Heinze E, Wolf AS, Schneider V, Günther KP
Am J Med Genet 1995 Oct 23;59(1):62-7. doi: 10.1002/ajmg.1320590114. PMID: 8849014
Clinical and laboratory evaluation of patients with primary amenorrhea.
Mashchak CA, Kletzky OA, Davajan V, Mishell DR Jr
Obstet Gynecol 1981 Jun;57(6):715-21. PMID: 6785680
Gonadotropin secretion in prepubertal and pubertal primary hypogonadism: response to LHRH.
de Behar BR, Mendilaharzu H, Rivarola MA, Bergadá C
J Clin Endocrinol Metab 1975 Dec;41(06):1070-5. doi: 10.1210/jcem-41-6-1070. PMID: 1107345

Diagnosis

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA
Am J Med Genet A 2019 Jul;179(7):1376-1382. Epub 2019 May 8 doi: 10.1002/ajmg.a.61182. PMID: 31069960Free PMC Article
Hypoplastic left heart syndrome in PAGOD syndrome.
Takahashi K, Miyake A, Nakayashiro M
Pediatr Int 2014 Jun;56(3):422-4. doi: 10.1111/ped.12280. PMID: 24894929
Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.
Kennerknecht I, Sorgo W, Oberhoffer R, Teller WM, Mattfeldt T, Negri G, Vogel W
Am J Med Genet 1993 Dec 1;47(8):1166-70. doi: 10.1002/ajmg.1320470807. PMID: 8291549
"True agonadism": a misnomer?
Parks GA, Dumars KW, Limbeck GA, Quinlivan WL, New MI
J Pediatr 1974 Mar;84(3):375-80. doi: 10.1016/s0022-3476(74)80720-1. PMID: 4272854
Agonadism.
Emson HE, Buckwold AE
Can Med Assoc J 1965 Nov 13;93(20):1080-3. PMID: 4954254Free PMC Article

Therapy

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
Artificial agonadism and hormone replacement for oocyte donation.
Meldrum DR, Wisot A, Hamilton F, Gutlay-Yeo AL, Marr B, Huynh D
Fertil Steril 1989 Sep;52(3):509-11. doi: 10.1016/s0015-0282(16)60927-5. PMID: 2506080

Prognosis

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA
Am J Med Genet A 2019 Jul;179(7):1376-1382. Epub 2019 May 8 doi: 10.1002/ajmg.a.61182. PMID: 31069960Free PMC Article
Vitamin A deficiency in an infant with PAGOD syndrome.
Gavrilova R, Babovic N, Lteif A, Eidem B, Kirmani S, Olson T, Babovic-Vuksanovic D
Am J Med Genet A 2009 Oct;149A(10):2241-7. doi: 10.1002/ajmg.a.32998. PMID: 19760653
PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency.
Macayran JF, Doroshow RW, Phillips J, Sinow RM, Furst BA, Smith LM, Lin HJ
Am J Med Genet 2002 Mar 15;108(3):229-34. doi: 10.1002/ajmg.10262. PMID: 11891692
Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies.
Silengo M, Del Monaco A, Linari A, Lala R
Am J Med Genet 2001 Jul 1;101(3):275-8. doi: 10.1002/ajmg.1384. PMID: 11424145

Clinical prediction guides

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA
Am J Med Genet A 2019 Jul;179(7):1376-1382. Epub 2019 May 8 doi: 10.1002/ajmg.a.61182. PMID: 31069960Free PMC Article
PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency.
Macayran JF, Doroshow RW, Phillips J, Sinow RM, Furst BA, Smith LM, Lin HJ
Am J Med Genet 2002 Mar 15;108(3):229-34. doi: 10.1002/ajmg.10262. PMID: 11891692
Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies.
Silengo M, Del Monaco A, Linari A, Lala R
Am J Med Genet 2001 Jul 1;101(3):275-8. doi: 10.1002/ajmg.1384. PMID: 11424145
Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: a new autosomal recessive syndrome.
Kennerknecht I, von Saurma P, Brenner R, Just W, Barbi G, Sorgo W, Heinze E, Wolf AS, Schneider V, Günther KP
Am J Med Genet 1995 Oct 23;59(1):62-7. doi: 10.1002/ajmg.1320590114. PMID: 8849014
46,XY male pseudohermaphroditism due to early foetal testicular dysgenesis.
Messinis IE, Nillius SJ
Acta Endocrinol (Copenh) 1981 Oct;98(2):308-11. doi: 10.1530/acta.0.0980308. PMID: 7293662

Supplemental Content

Table of contents

    Clinical resources

    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...