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46,XX ovarian dysgenesis-short stature syndrome(ODG4)

MedGen UID:
863846
•Concept ID:
C4015409
•
Disease or Syndrome
Synonyms: ODG4; OVARIAN DYSGENESIS 4
SNOMED CT: 46,XX ovarian dysgenesis, short stature syndrome (1237345002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): MCM9 (6q22.31)
 
Monarch Initiative: MONDO:0014520
OMIM®: 616185
Orphanet: ORPHA444048

Definition

A rare genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair and normal 46,XX karyotype. [from SNOMEDCT_US]

Clinical features

From HPO
Primary amenorrhea
MedGen UID:
115918
•Concept ID:
C0232939
•
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Decreased body weight
MedGen UID:
1806755
•Concept ID:
C5574742
•
Finding
Abnormally low body weight.
See: Feature record | Search on this feature
Delayed skeletal maturation
MedGen UID:
108148
•Concept ID:
C0541764
•
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
See: Feature record | Search on this feature
Decreased serum estradiol
MedGen UID:
69129
•Concept ID:
C0241011
•
Finding
A reduction below normal concentration of estradiol in the circulation.
See: Feature record | Search on this feature
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
•Concept ID:
C4021550
•
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XX ovarian dysgenesis-short stature syndrome

Recent clinical studies

Etiology

Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review.
Cheng J, Ruan X, Du J, Jin F, Gu M, Wu Y, Mueck AO
Front Endocrinol (Lausanne) 2022;13:959912. Epub 2022 Nov 21 doi: 10.3389/fendo.2022.959912. PMID: 36479213Free PMC Article
Association between clinical variations and copy number variations in cases with Turner syndrome.
Aksoy E, Cogulu O, Pariltay E, Ozen S, Ata A, Karaca E, Darcan S
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1161-1168. Epub 2022 Aug 12 doi: 10.1515/jpem-2022-0153. PMID: 35953302
A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature.
Mavridi A, Ntali G, Theodora M, Stamatelopoulos K, Michala L
J Pediatr Adolesc Gynecol 2018 Dec;31(6):651-654. Epub 2018 Aug 20 doi: 10.1016/j.jpag.2018.07.005. PMID: 30012427
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article
Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis.
Han TS, Goswami D, Trikudanathan S, Creighton SM, Conway GS
Eur J Endocrinol 2008 Aug;159(2):179-85. Epub 2008 May 7 doi: 10.1530/EJE-08-0166. PMID: 18463105

Diagnosis

Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review.
Cheng J, Ruan X, Du J, Jin F, Gu M, Wu Y, Mueck AO
Front Endocrinol (Lausanne) 2022;13:959912. Epub 2022 Nov 21 doi: 10.3389/fendo.2022.959912. PMID: 36479213Free PMC Article
Association between clinical variations and copy number variations in cases with Turner syndrome.
Aksoy E, Cogulu O, Pariltay E, Ozen S, Ata A, Karaca E, Darcan S
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1161-1168. Epub 2022 Aug 12 doi: 10.1515/jpem-2022-0153. PMID: 35953302
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.
Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A
Am J Hum Genet 2014 Dec 4;95(6):754-62. doi: 10.1016/j.ajhg.2014.11.002. PMID: 25480036Free PMC Article
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article
47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.
Brambila-Tapia AJ, Rivera H, García-Castillo H, Domínguez-Quezada MG, Dávalos-Rodríguez IP
Fertil Steril 2009 Nov;92(5):1747.e5-7. Epub 2009 Sep 3 doi: 10.1016/j.fertnstert.2009.07.1008. PMID: 19732877

Therapy

The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review.
Chen M, Ke X, Liang H, Gong F, Yang H, Wang L, Duan L, Pan H, Cao D, Zhu H
Mol Genet Genomic Med 2021 Dec;9(12):e1842. Epub 2021 Nov 8 doi: 10.1002/mgg3.1842. PMID: 34747577Free PMC Article
Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis.
Han TS, Goswami D, Trikudanathan S, Creighton SM, Conway GS
Eur J Endocrinol 2008 Aug;159(2):179-85. Epub 2008 May 7 doi: 10.1530/EJE-08-0166. PMID: 18463105

Prognosis

Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review.
Cheng J, Ruan X, Du J, Jin F, Gu M, Wu Y, Mueck AO
Front Endocrinol (Lausanne) 2022;13:959912. Epub 2022 Nov 21 doi: 10.3389/fendo.2022.959912. PMID: 36479213Free PMC Article
A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature.
Mavridi A, Ntali G, Theodora M, Stamatelopoulos K, Michala L
J Pediatr Adolesc Gynecol 2018 Dec;31(6):651-654. Epub 2018 Aug 20 doi: 10.1016/j.jpag.2018.07.005. PMID: 30012427
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.
Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A
Am J Hum Genet 2014 Dec 4;95(6):754-62. doi: 10.1016/j.ajhg.2014.11.002. PMID: 25480036Free PMC Article
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.
Persson JW, Humphrey K, Watson C, Taylor P, Leigh D, McDonald B, Fraser IS
Hum Reprod 1999 May;14(5):1207-12. doi: 10.1093/humrep/14.5.1207. PMID: 10325262

Clinical prediction guides

Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review.
Cheng J, Ruan X, Du J, Jin F, Gu M, Wu Y, Mueck AO
Front Endocrinol (Lausanne) 2022;13:959912. Epub 2022 Nov 21 doi: 10.3389/fendo.2022.959912. PMID: 36479213Free PMC Article
Association between clinical variations and copy number variations in cases with Turner syndrome.
Aksoy E, Cogulu O, Pariltay E, Ozen S, Ata A, Karaca E, Darcan S
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1161-1168. Epub 2022 Aug 12 doi: 10.1515/jpem-2022-0153. PMID: 35953302
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.
Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A
Am J Hum Genet 2014 Dec 4;95(6):754-62. doi: 10.1016/j.ajhg.2014.11.002. PMID: 25480036Free PMC Article
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.
Persson JW, Humphrey K, Watson C, Taylor P, Leigh D, McDonald B, Fraser IS
Hum Reprod 1999 May;14(5):1207-12. doi: 10.1093/humrep/14.5.1207. PMID: 10325262

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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