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46,XX sex reversal 2(SRXX2)

MedGen UID:
411414
Concept ID:
C2749215
Disease or Syndrome
Synonyms: CHROMOSOME 17q24 DUPLICATION SYNDROME; SRXX2; SRY-negative 46,XX testicular disorder of sex development
 
Monarch Initiative: MONDO:0010218
OMIM®: 278850

Disease characteristics

Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency. [from GeneReviews]
Authors:
Emmanuèle C Délot  |  Eric J Vilain   view full author information

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Infertility disorder
MedGen UID:
43876
Concept ID:
C0021359
Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
True hermaphroditism
MedGen UID:
78595
Concept ID:
C0266361
Disease or Syndrome
The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.
Uterine hypoplasia
MedGen UID:
120575
Concept ID:
C0266399
Congenital Abnormality
Underdevelopment of the uterus.
Bifid scrotum
MedGen UID:
90968
Concept ID:
C0341787
Congenital Abnormality
Midline indentation or cleft of the scrotum.
Hypoplasia of the vagina
MedGen UID:
91040
Concept ID:
C0345309
Congenital Abnormality
Developmental hypoplasia of the vagina.
Perineal hypospadias
MedGen UID:
105292
Concept ID:
C0452148
Congenital Abnormality
Hypospadias with location of the urethral meatus in the perineal region.
Small scrotum
MedGen UID:
141577
Concept ID:
C0455792
Finding
Apparently small scrotum for age.
Non-obstructive azoospermia
MedGen UID:
866757
Concept ID:
C4021107
Disease or Syndrome
Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
Sex reversal
MedGen UID:
868596
Concept ID:
C4022995
Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Ovotestis
MedGen UID:
1634511
Concept ID:
C4551490
Congenital Abnormality
A gonad that contains both ovarian follicles and testicular tubular elements.
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.
Abnormal skeletal morphology
MedGen UID:
868760
Concept ID:
C4023165
Anatomical Abnormality
An abnormality of the form, structure, or size of the skeletal system.
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
Concept ID:
C4021550
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Elevated circulating luteinizing hormone level
MedGen UID:
868698
Concept ID:
C4023101
Finding
An elevated concentration of luteinizing hormone in the blood.
Decreased serum testosterone concentration
MedGen UID:
892974
Concept ID:
C4073137
Finding

Term Hierarchy

Professional guidelines

PubMed

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
Chiang HS, Wu YN, Wu CC, Hwang JL
J Formos Med Assoc 2013 Feb;112(2):72-8. Epub 2012 Aug 30 doi: 10.1016/j.jfma.2012.02.009. PMID: 23380608
Pinhas-Hamiel O, Zalel Y, Smith E, Mazkereth R, Aviram A, Lipitz S, Achiron R
J Clin Endocrinol Metab 2002 Oct;87(10):4547-53. doi: 10.1210/jc.2001-011034. PMID: 12364433

Recent clinical studies

Etiology

Vilanova-Sanchez A, McCracken K, Halleran DR, Wood RJ, Reck-Burneo CA, Levitt MA, Hewitt G
J Pediatr Adolesc Gynecol 2019 Feb;32(1):7-14. Epub 2018 Oct 24 doi: 10.1016/j.jpag.2018.10.002. PMID: 30367985
Berglund A, Johannsen TH, Stochholm K, Aksglaede L, Fedder J, Viuff MH, Main KM, Gravholt CH
Hum Reprod 2017 Aug 1;32(8):1751-1760. doi: 10.1093/humrep/dex210. PMID: 28854582
Chan AO, But WM, Lee CY, Lam YY, Ng KL, Loung PY, Lam A, Cheng CW, Shek CC, Wong WS, Wong KF, Wong MY, Tse WY
Hong Kong Med J 2015 Dec;21(6):499-510. Epub 2015 Oct 16 doi: 10.12809/hkmj144402. PMID: 26492835
Chiang HS, Wu YN, Wu CC, Hwang JL
J Formos Med Assoc 2013 Feb;112(2):72-8. Epub 2012 Aug 30 doi: 10.1016/j.jfma.2012.02.009. PMID: 23380608
Seeherunvong T, Perera EM, Bao Y, Benke PJ, Benigno A, Donahue RP, Berkovitz GD
Am J Med Genet A 2004 Jun 1;127A(2):149-51. doi: 10.1002/ajmg.a.20630. PMID: 15108202

Diagnosis

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
Shil K, Ferdousi T, Haq T, Hasanat MA
J ASEAN Fed Endocr Soc 2023;38(2):141-144. Epub 2023 Jul 30 doi: 10.15605/jafes.038.02.09. PMID: 38045677Free PMC Article
Berglund A, Johannsen TH, Stochholm K, Aksglaede L, Fedder J, Viuff MH, Main KM, Gravholt CH
Hum Reprod 2017 Aug 1;32(8):1751-1760. doi: 10.1093/humrep/dex210. PMID: 28854582
Dangle P, Touzon MS, Reyes-Múgica M, Witchel SF, Rajkovic A, Schneck FX, Yatsenko SA
J Med Genet 2017 Oct;54(10):705-709. Epub 2017 May 8 doi: 10.1136/jmedgenet-2016-104128. PMID: 28483799
Mohammadpour Lashkari F, Totonchi M, Zamanian MR, Mansouri Z, Sadighi Gilani MA, Sabbaghian M, Mohseni Meybodi A
Andrologia 2017 Sep;49(7) Epub 2016 Nov 24 doi: 10.1111/and.12710. PMID: 27882599

Therapy

Berglund A, Johannsen TH, Stochholm K, Aksglaede L, Fedder J, Viuff MH, Main KM, Gravholt CH
Hum Reprod 2017 Aug 1;32(8):1751-1760. doi: 10.1093/humrep/dex210. PMID: 28854582
Nebesio TD, Torres-Martinez W, Rink RC, Eugster EA
Endocr Pract 2011 Mar-Apr;17(2):e1-3. doi: 10.4158/EP10242.CR. PMID: 21041165

Prognosis

Berglund A, Johannsen TH, Stochholm K, Aksglaede L, Fedder J, Viuff MH, Main KM, Gravholt CH
Hum Reprod 2017 Aug 1;32(8):1751-1760. doi: 10.1093/humrep/dex210. PMID: 28854582

Clinical prediction guides

Wei J, Liu C, Zhang M, Liu S, Fu J, Lin P
BMC Med Genomics 2022 Sep 5;15(1):188. doi: 10.1186/s12920-022-01347-0. PMID: 36064700Free PMC Article
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Horm Res Paediatr 2018;89(6):450-454. Epub 2017 Nov 17 doi: 10.1159/000481776. PMID: 29151085
Nagata T, Kawano A, Koyama M, Nakamura T, Hirahara F, Nakajima T, Sato T, Sakakibara H
J Pediatr Adolesc Gynecol 2017 Jun;30(3):400-404. Epub 2015 Dec 11 doi: 10.1016/j.jpag.2015.12.001. PMID: 26688428
Chiang HS, Wu YN, Wu CC, Hwang JL
J Formos Med Assoc 2013 Feb;112(2):72-8. Epub 2012 Aug 30 doi: 10.1016/j.jfma.2012.02.009. PMID: 23380608
Pinhas-Hamiel O, Zalel Y, Smith E, Mazkereth R, Aviram A, Lipitz S, Achiron R
J Clin Endocrinol Metab 2002 Oct;87(10):4547-53. doi: 10.1210/jc.2001-011034. PMID: 12364433

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