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Ovotesticular Differences of Sex Development

MedGen UID:
926070
•Concept ID:
C4288538
•
Congenital Abnormality

Definition

Difference of sex development characterized by the presence of ovarian and testicular tissue in the same individual. The clinical manifestations of the condition, which can be associated with 46,XX, 46,XY or 46,XX/46,XY mosaic karyotype, are variable. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOvotesticular Differences of Sex Development

Professional guidelines

PubMed

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.
Yavas Abalı Z, Guran T
Front Endocrinol (Lausanne) 2024;15:1354759. Epub 2024 May 15 doi: 10.3389/fendo.2024.1354759. PMID: 38812815Free PMC Article
Ovotesticular Difference of Sex Development: Genetic Background, Histological Features, and Clinical Management.
Syryn H, Van De Vijver K, Cools M
Horm Res Paediatr 2023;96(2):180-189. Epub 2021 Sep 1 doi: 10.1159/000519323. PMID: 34469891
Genetic evaluation of disorders of sex development: current practice and novel gene discovery.
Kremen J, Chan YM
Curr Opin Endocrinol Diabetes Obes 2019 Feb;26(1):54-59. doi: 10.1097/MED.0000000000000452. PMID: 30507699

Recent clinical studies

Etiology

Gonadal tumor development in 46,XX disorders of gonadal development.
Costanzo M, Touzon MS, Marino R, Guercio G, Ramirez P, Mattone MC, Pérez Garrido N, Bailez MM, Vaiani E, Ciaccio M, Galluzzo Mutti ML, Belgorosky A, Berensztein E
Eur J Endocrinol 2022 Sep 1;187(3):451-462. Epub 2022 Jul 29 doi: 10.1530/EJE-22-0283. PMID: 35900314
SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Lambert S, Peycelon M, Samara-Boustani D, Hyon C, Dumeige L, Peuchmaur M, Fiot E, Léger J, Simon D, Paye-Jaouen A, Bouligand J, Siffroi JP, Carel JC, McElreavey K, El Ghoneimi A, Brachet C, Bouvattier C, Martinerie L
Clin Endocrinol (Oxf) 2021 Apr;94(4):667-676. Epub 2020 Dec 26 doi: 10.1111/cen.14389. PMID: 33296530
Puberty in Patients with Ovotesticular DSD: Evaluation of 20 Patients and Review of the Literature.
Melardi JW, Cunha DFS, Steinmetz L, Damiani D
Pediatr Endocrinol Rev 2020 Jun;17(3):243-249. doi: 10.17458/per.vol17.2020.msc.pubertyovotesticulardsd. PMID: 32741155
Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature.
Kilberg MJ, McLoughlin M, Pyle LC, Vogiatzi MG
Pediatr Endocrinol Rev 2019 Dec;17(2):110-116. doi: 10.17458/per.vol17.2019.kmv.endocrineovotesticulardsd. PMID: 31763803Free PMC Article
Gonadal Tissue Cryopreservation for Children with Differences of Sex Development.
Johnson EK, Finlayson C, Finney EL, Harris CJ, Tan SY, Laronda MM, Lockart BA, Chen D, Rowell EE, Cheng EY, Yerkes EB
Horm Res Paediatr 2019;92(2):84-91. Epub 2019 Sep 11 doi: 10.1159/000502644. PMID: 31509845

Diagnosis

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.
Yavas Abalı Z, Guran T
Front Endocrinol (Lausanne) 2024;15:1354759. Epub 2024 May 15 doi: 10.3389/fendo.2024.1354759. PMID: 38812815Free PMC Article
Gonadal tumor development in 46,XX disorders of gonadal development.
Costanzo M, Touzon MS, Marino R, Guercio G, Ramirez P, Mattone MC, Pérez Garrido N, Bailez MM, Vaiani E, Ciaccio M, Galluzzo Mutti ML, Belgorosky A, Berensztein E
Eur J Endocrinol 2022 Sep 1;187(3):451-462. Epub 2022 Jul 29 doi: 10.1530/EJE-22-0283. PMID: 35900314
SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Lambert S, Peycelon M, Samara-Boustani D, Hyon C, Dumeige L, Peuchmaur M, Fiot E, Léger J, Simon D, Paye-Jaouen A, Bouligand J, Siffroi JP, Carel JC, McElreavey K, El Ghoneimi A, Brachet C, Bouvattier C, Martinerie L
Clin Endocrinol (Oxf) 2021 Apr;94(4):667-676. Epub 2020 Dec 26 doi: 10.1111/cen.14389. PMID: 33296530
Ovotesticular differences of sex development: male or female? Case series.
Scarpa MG, Lesma A, Di Grazia M, Rigamonti W
Ital J Pediatr 2019 May 30;45(1):66. doi: 10.1186/s13052-019-0660-8. PMID: 31146767Free PMC Article
Genetic evaluation of disorders of sex development: current practice and novel gene discovery.
Kremen J, Chan YM
Curr Opin Endocrinol Diabetes Obes 2019 Feb;26(1):54-59. doi: 10.1097/MED.0000000000000452. PMID: 30507699

Therapy

Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.
Baskin A, Wisniewski AB, Aston CE, Austin P, Chan YM, Cheng EY, Diamond DA, Fried A, Kolon T, Lakshmanan Y, Williot P, Meyer S, Meyer T, Kropp B, Nokoff N, Palmer B, Paradis A, Poppas D, VanderBrink B, Scott Reyes KJ, Tishelman A, Wolfe-Christensen C, Yerkes E, Mullins LL, Baskin L
J Pediatr Urol 2020 Oct;16(5):568-575. Epub 2020 Jun 1 doi: 10.1016/j.jpurol.2020.05.166. PMID: 32624410Free PMC Article
Gonadal Tissue Cryopreservation for Children with Differences of Sex Development.
Johnson EK, Finlayson C, Finney EL, Harris CJ, Tan SY, Laronda MM, Lockart BA, Chen D, Rowell EE, Cheng EY, Yerkes EB
Horm Res Paediatr 2019;92(2):84-91. Epub 2019 Sep 11 doi: 10.1159/000502644. PMID: 31509845

Prognosis

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network, Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E
Eur J Hum Genet 2023 Oct;31(10):1117-1124. Epub 2023 Jul 27 doi: 10.1038/s41431-023-01434-5. PMID: 37500725Free PMC Article
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development.
Qian Z, Grand K, Freedman A, Nieto MC, Behlmann A, Schweiger BM, Sanchez-Lara PA
Am J Med Genet A 2021 Sep;185(9):2782-2788. Epub 2021 May 29 doi: 10.1002/ajmg.a.62373. PMID: 34050715Free PMC Article
Gender identity shows a high correlation with Prader score in patients with disorders of sex development (DSD) presenting in mid childhood.
Chowdhury TK, Chowdhury MZ, Mili F, Hutson JM, Banu T
Pediatr Surg Int 2014 May;30(5):527-32. Epub 2014 Feb 25 doi: 10.1007/s00383-014-3486-x. PMID: 24566723
Long-term outcome of ovotesticular disorder of sex development: a single center experience.
Matsui F, Shimada K, Matsumoto F, Itesako T, Nara K, Ida S, Nakayama M
Int J Urol 2011 Mar;18(3):231-6. Epub 2011 Jan 23 doi: 10.1111/j.1442-2042.2010.02700.x. PMID: 21255100
Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum.
Siklar Z, Berberoğlu M, Adiyaman P, Salih M, Tükün A, Cetinkaya E, Aycan Z, Evliyaoğlu O, Ergur AT, Oçal G
Pediatr Endocrinol Rev 2007 Mar;4(3):210-7. PMID: 17551482

Clinical prediction guides

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network, Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E
Eur J Hum Genet 2023 Oct;31(10):1117-1124. Epub 2023 Jul 27 doi: 10.1038/s41431-023-01434-5. PMID: 37500725Free PMC Article
SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Lambert S, Peycelon M, Samara-Boustani D, Hyon C, Dumeige L, Peuchmaur M, Fiot E, Léger J, Simon D, Paye-Jaouen A, Bouligand J, Siffroi JP, Carel JC, McElreavey K, El Ghoneimi A, Brachet C, Bouvattier C, Martinerie L
Clin Endocrinol (Oxf) 2021 Apr;94(4):667-676. Epub 2020 Dec 26 doi: 10.1111/cen.14389. PMID: 33296530
Puberty in Patients with Ovotesticular DSD: Evaluation of 20 Patients and Review of the Literature.
Melardi JW, Cunha DFS, Steinmetz L, Damiani D
Pediatr Endocrinol Rev 2020 Jun;17(3):243-249. doi: 10.17458/per.vol17.2020.msc.pubertyovotesticulardsd. PMID: 32741155
A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report.
Mengen E, Kayhan G, Kocaay P, Uçaktürk SA
J Clin Res Pediatr Endocrinol 2020 Sep 2;12(3):308-314. Epub 2019 Sep 3 doi: 10.4274/jcrpe.galenos.2019.2019.0101. PMID: 31476840Free PMC Article
Ovotesticular disorder of sexual development (true hermaphroditism).
Berger-Zaslav AL, Mehta L, Jacob J, Mercado T, Gadi I, Tepperberg JH, Palmer LS
Urology 2009 Feb;73(2):293-6. Epub 2008 Sep 26 doi: 10.1016/j.urology.2008.08.428. PMID: 18822450

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