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46,XY sex reversal 10(SRXY10)

MedGen UID:
897538
•Concept ID:
C4225331
•
Disease or Syndrome
Synonyms: CHROMOSOME 17q24 DELETION SYNDROME; SRXY10
 
Monarch Initiative: MONDO:0014634
OMIM®: 616425

Definition

46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see 163950) (summary by Mann et al., 1983). For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044). [from OMIM]

Clinical features

From HPO
Dysgerminoma
MedGen UID:
41680
•Concept ID:
C0013377
•
Neoplastic Process
The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.
See: Feature record | Search on this feature
Gonadoblastoma
MedGen UID:
104912
•Concept ID:
C0206661
•
Neoplastic Process
The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
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Gonadal dysgenesis
MedGen UID:
9075
•Concept ID:
C0018051
•
Congenital Abnormality
A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
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Decreased testicular size
MedGen UID:
66027
•Concept ID:
C0241355
•
Finding
Reduced volume of the testicle (the male gonad).
See: Feature record | Search on this feature
Ambiguous genitalia
MedGen UID:
78596
•Concept ID:
C0266362
•
Congenital Abnormality
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale
See: Feature record | Search on this feature
Testicular dysgenesis
MedGen UID:
86232
•Concept ID:
C0302885
•
Finding
See: Feature record | Search on this feature
Bifid scrotum
MedGen UID:
90968
•Concept ID:
C0341787
•
Congenital Abnormality
Midline indentation or cleft of the scrotum.
See: Feature record | Search on this feature
Perineal hypospadias
MedGen UID:
105292
•Concept ID:
C0452148
•
Congenital Abnormality
Hypospadias with location of the urethral meatus in the perineal region.
See: Feature record | Search on this feature
Small scrotum
MedGen UID:
141577
•Concept ID:
C0455792
•
Finding
Apparently small scrotum for age.
See: Feature record | Search on this feature
Hypospadias
MedGen UID:
163083
•Concept ID:
C0848558
•
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
See: Feature record | Search on this feature
Sex reversal
MedGen UID:
868596
•Concept ID:
C4022995
•
Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
See: Feature record | Search on this feature
Ovotestis
MedGen UID:
1634511
•Concept ID:
C4551490
•
Congenital Abnormality
A gonad that contains both ovarian follicles and testicular tubular elements.
See: Feature record | Search on this feature
Micropenis
MedGen UID:
1633603
•Concept ID:
C4551492
•
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
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Professional guidelines

PubMed

Primary amenorrhoea - cytogenetic study in 40 Indian women.
Banerjee B, Dutta A, Roy S, Halder A
J Obstet Gynaecol 2024 Dec;44(1):2348085. Epub 2024 May 6 doi: 10.1080/01443615.2024.2348085. PMID: 38708796
Cytogenetic screening of chromosomal abnormalities and genetic analysis of FSH receptor Ala307Thr and Ser680Asn genes in amenorrheic patients.
Kanaan BA, Al-Ouqaili MTS, Murshid RM
PeerJ 2023;11:e15267. Epub 2023 May 26 doi: 10.7717/peerj.15267. PMID: 37255590Free PMC Article
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Gui B, Song Y, Su Z, Luo FH, Chen L, Wang X, Chen R, Yang Y, Wang J, Zhao X, Fan L, Liu X, Wang Y, Chen S, Gong C
J Med Genet 2019 Oct;56(10):685-692. Epub 2019 Jun 11 doi: 10.1136/jmedgenet-2018-105915. PMID: 31186340

Recent clinical studies

Etiology

Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency.
Geckinli BB, Toksoy G, Sayar C, Soylemez MA, Yesil G, Aydın H, Karaman A, Devranoglu B
Eur J Obstet Gynecol Reprod Biol 2014 Nov;182:211-5. Epub 2014 Sep 28 doi: 10.1016/j.ejogrb.2014.09.033. PMID: 25445102
Two novel mutations in SRY gene form Chinese sex reversal XY females.
Zhou C, Fu JJ, Li LY, Lu GX
Yi Chuan Xue Bao 2005 May;32(5):443-9. PMID: 16018252
SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development.
Hanley NA, Hagan DM, Clement-Jones M, Ball SG, Strachan T, Salas-Cortés L, McElreavey K, Lindsay S, Robson S, Bullen P, Ostrer H, Wilson DI
Mech Dev 2000 Mar 1;91(1-2):403-7. doi: 10.1016/s0925-4773(99)00307-x. PMID: 10704874
45,X/46,XY mosaicism: report of 27 cases.
Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL
Pediatrics 1999 Aug;104(2 Pt 1):304-8. doi: 10.1542/peds.104.2.304. PMID: 10429013
A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal.
Cameron FJ, Hageman RM, Cooke-Yarborough C, Kwok C, Goodwin LL, Sillence DO, Sinclair AH
Hum Mol Genet 1996 Oct;5(10):1625-30. doi: 10.1093/hmg/5.10.1625. PMID: 8894698

Diagnosis

Primary amenorrhoea - cytogenetic study in 40 Indian women.
Banerjee B, Dutta A, Roy S, Halder A
J Obstet Gynaecol 2024 Dec;44(1):2348085. Epub 2024 May 6 doi: 10.1080/01443615.2024.2348085. PMID: 38708796
Cytogenetic screening of chromosomal abnormalities and genetic analysis of FSH receptor Ala307Thr and Ser680Asn genes in amenorrheic patients.
Kanaan BA, Al-Ouqaili MTS, Murshid RM
PeerJ 2023;11:e15267. Epub 2023 May 26 doi: 10.7717/peerj.15267. PMID: 37255590Free PMC Article
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
Croft B, Bird AD, Ono M, Eggers S, Bagheri-Fam S, Ryan JM, Reyes AP, van den Bergen J, Baxendale A, Thompson EM, Kueh AJ, Stanton P, Thomas T, Sinclair AH, Harley VR
Clin Genet 2023 Mar;103(3):277-287. Epub 2022 Nov 28 doi: 10.1111/cge.14261. PMID: 36349847Free PMC Article
WT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review.
Dai YL, Fu JF, Hong F, Xu S, Shen Z
Acta Paediatr 2011 Jul;100(7):e39-42. Epub 2011 Feb 14 doi: 10.1111/j.1651-2227.2011.02167.x. PMID: 21314844
SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development.
Hanley NA, Hagan DM, Clement-Jones M, Ball SG, Strachan T, Salas-Cortés L, McElreavey K, Lindsay S, Robson S, Bullen P, Ostrer H, Wilson DI
Mech Dev 2000 Mar 1;91(1-2):403-7. doi: 10.1016/s0925-4773(99)00307-x. PMID: 10704874

Therapy

Possible fetal determinants of male infertility.
Juul A, Almstrup K, Andersson AM, Jensen TK, Jørgensen N, Main KM, Rajpert-De Meyts E, Toppari J, Skakkebæk NE
Nat Rev Endocrinol 2014 Sep;10(9):553-62. Epub 2014 Jun 17 doi: 10.1038/nrendo.2014.97. PMID: 24935122
Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China.
Chen L, Ding XP, Wei X, Li LX
Genet Mol Res 2014 Mar 12;13(1):1518-26. doi: 10.4238/2014.March.12.4. PMID: 24668626
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
Jordan BK, Jain M, Natarajan S, Frasier SD, Vilain E
J Clin Endocrinol Metab 2002 Jul;87(7):3428-32. doi: 10.1210/jcem.87.7.8646. PMID: 12107262
A genetic male infant with female phenotype in camptomelic syndrome: a possible relationship to exposure to oral contraceptives during pregnancy.
Kim MR, Qazi QH, Anderson VM, Valencia GB
Am J Obstet Gynecol 1995 Mar;172(3):1042-3. doi: 10.1016/0002-9378(95)90042-x. PMID: 7892846

Prognosis

Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods.
Das DK, Sanghavi D, Gawde H, Idicula-Thomas S, Vasudevan L
Eur J Med Genet 2011 Nov-Dec;54(6):e529-34. Epub 2011 Jul 23 doi: 10.1016/j.ejmg.2011.04.010. PMID: 21816240

Clinical prediction guides

Inherited Missense Mutation Occurring in Arginine76 of the SRY Gene Does Not Account for Familial 46, XY Sex Reversal.
Wang N, Zhu W, Han B, Wang H, Zhu H, Chen Y, Chen Y, Liu J, Liu Y, Zhao S, Song H, Qiao J
J Clin Endocrinol Metab 2020 May 1;105(5) doi: 10.1210/clinem/dgaa109. PMID: 32140723
Possible fetal determinants of male infertility.
Juul A, Almstrup K, Andersson AM, Jensen TK, Jørgensen N, Main KM, Rajpert-De Meyts E, Toppari J, Skakkebæk NE
Nat Rev Endocrinol 2014 Sep;10(9):553-62. Epub 2014 Jun 17 doi: 10.1038/nrendo.2014.97. PMID: 24935122
A novel human sex-determining gene linked to Xp11.21-11.23.
Rajender S, Thangaraj K, Gupta NJ, Leelavathy N, Rani DS, Nambiar RG, Kalavathy V, Santhiya ST, Rajangam S, Gopinath PM, Chakravarty B, Singh L
J Clin Endocrinol Metab 2006 Oct;91(10):4028-36. Epub 2006 Jul 25 doi: 10.1210/jc.2006-0950. PMID: 16868052
Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation.
Shahid M, Dhillion VS, Jain N, Hedau S, Diwakar S, Sachdeva P, Batra S, Das BC, Husain SA
Mol Hum Reprod 2004 Jul;10(7):521-6. Epub 2004 May 21 doi: 10.1093/molehr/gah071. PMID: 15155818
A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal.
Cameron FJ, Hageman RM, Cooke-Yarborough C, Kwok C, Goodwin LL, Sillence DO, Sinclair AH
Hum Mol Genet 1996 Oct;5(10):1625-30. doi: 10.1093/hmg/5.10.1625. PMID: 8894698

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