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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): Gene(s) directly associated with this condition or phenotype.	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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Abnormality of the endocrine system
- Decreased serum estradiol
- Elevated circulating follicle stimulating hormone level
Abnormality of the genitourinary system
- Primary amenorrhea
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Growth abnormality
- Decreased body weight
- Short stature

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGV46,XX ovarian dysgenesis-short stature syndrome

46,XX disorder of gonadal development
- 46,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: 36479213 Free 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: 20459843 Free 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

See all (6)

Diagnosis

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: 25480036 Free 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: 20459843 Free PMC Article

Acromegaly accompanied by Turner syndrome with 47,XXX/45,X/46,XX mosaicism.

Yamazaki M, Sato A, Nishio S, Takeda T, Miyamoto T, Katai M, Hashizume K
Intern Med 2009;48(6):447-53. Epub 2009 Mar 16 doi: 10.2169/internalmedicine.48.1157. PMID: 19293545

46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.

Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR
Am J Med Genet 2001 Jan 15;98(2):121-4. doi: 10.1002/1096-8628(20010115)98:2<121::aid-ajmg1019>3.0.co;2-4. PMID: 11223846

See all (11)

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: 34747577 Free 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

See all (2)

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: 36479213 Free 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.

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: 20459843 Free 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

See all (5)

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: 36479213 Free 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.

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

See all (4)

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

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

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Reviews

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