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46,XY disorder of sex development and 46,XY complete gonadal dysgenesis

MedGen UID:
448007
Concept ID:
CN043561
Disease or Syndrome

Definition

People with Swyer syndrome have female external genitalia and some female internal reproductive structures. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These structures are called  streak gonads. The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. Swyer syndrome is also called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” means "abnormal development."

Because they appear female on the outside, babies with Swyer syndrome are usually raised as girls and develop a female gender identity, which is a person's sense of their gender (girl, boy, a combination, or neither). Swyer syndrome may be identified before birth, at birth, or later when a child does not go through puberty as usual. Because they do not have functional ovaries that produce hormones, affected individuals often begin hormone replacement therapy during early adolescence to start puberty, causing the breasts and uterus to grow, and eventually leading to menstruation. Hormone replacement therapy is also important for bone health and helps reduce the risk of low bone density (osteopenia) and fragile bones (osteoporosis). Women with Swyer syndrome do not produce eggs (ova), but if they have a uterus, they may be able to become pregnant with a donated egg or embryo.

Chromosomes contain the genetic instructions for how the body develops and functions. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female reproductive structures. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals have one X chromosome and one Y chromosome in each cell, which is the pattern typically found in boys and men; however, they have female reproductive structures.

Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Elamo HP, Virtanen HE, Toppari J
Best Pract Res Clin Endocrinol Metab 2022 Jan;36(1):101619. Epub 2022 Feb 4 doi: 10.1016/j.beem.2022.101619. PMID: 35193821
Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP
J Pediatr Urol 2013 Jun;9(3):368-79. Epub 2012 Dec 29 doi: 10.1016/j.jpurol.2012.12.002. PMID: 23276787
Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology
Pediatrics 2006 Aug;118(2):e488-500. doi: 10.1542/peds.2006-0738. PMID: 16882788

Recent clinical studies

Etiology

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
Coelingh Bennink HJT, Egberts JFM, Mol JA, Roes KCB, van Diest PJ
J Clin Endocrinol Metab 2020 Sep 1;105(9) doi: 10.1210/clinem/dgaa404. PMID: 32594127
Roth LM, Cheng L
Hum Pathol 2020 Jun;100:47-53. Epub 2019 Dec 2 doi: 10.1016/j.humpath.2019.11.005. PMID: 31805291
García-Acero M, Moreno-Niño O, Suárez-Obando F, Molina M, Manotas MC, Prieto JC, Forero C, Céspedes C, Pérez J, Fernandez N, Rojas A
Mol Med Rep 2020 Jan;21(1):97-106. Epub 2019 Nov 12 doi: 10.3892/mmr.2019.10819. PMID: 31746433Free PMC Article
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337

Diagnosis

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
Fallat ME, Hertweck P, Klipstein S
J Pediatr Adolesc Gynecol 2021 Dec;34(6):771-772. doi: 10.1016/j.jpag.2021.08.008. PMID: 34742465
Babu R, Shah U
J Pediatr Urol 2021 Feb;17(1):39-47. Epub 2020 Nov 12 doi: 10.1016/j.jpurol.2020.11.017. PMID: 33246831
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP
J Pediatr Urol 2013 Jun;9(3):368-79. Epub 2012 Dec 29 doi: 10.1016/j.jpurol.2012.12.002. PMID: 23276787

Therapy

Faure-Conter C, Orbach D, Fresneau B, Verité C, Bonneau J, Thebaud E, Poirée M, Thouvenin S, Pluchart C, Mure PY, Dijoud F, Morel Y
Pediatr Blood Cancer 2020 Apr;67(4):e28169. Epub 2020 Feb 4 doi: 10.1002/pbc.28169. PMID: 32020769
Matsumoto F, Matsuyama S, Matsui F, Yazawa K, Matsuoka K
Urology 2020 Mar;137:157-160. Epub 2019 Dec 27 doi: 10.1016/j.urology.2019.12.014. PMID: 31883875
García-Acero M, Moreno-Niño O, Suárez-Obando F, Molina M, Manotas MC, Prieto JC, Forero C, Céspedes C, Pérez J, Fernandez N, Rojas A
Mol Med Rep 2020 Jan;21(1):97-106. Epub 2019 Nov 12 doi: 10.3892/mmr.2019.10819. PMID: 31746433Free PMC Article
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology
Pediatrics 2006 Aug;118(2):e488-500. doi: 10.1542/peds.2006-0738. PMID: 16882788

Prognosis

McElreavey K, Pailhoux E, Bashamboo A
Sex Dev 2022;16(2-3):194-206. Epub 2022 Jul 14 doi: 10.1159/000522004. PMID: 35835064
Ljubicic ML, Jørgensen A, Aksglaede L, Nielsen JE, Albrethsen J, Juul A, Johannsen TH
Front Endocrinol (Lausanne) 2021;12:709954. Epub 2021 Aug 10 doi: 10.3389/fendo.2021.709954. PMID: 34447353Free PMC Article
Matsumoto F, Matsuyama S, Matsui F, Yazawa K, Matsuoka K
Urology 2020 Mar;137:157-160. Epub 2019 Dec 27 doi: 10.1016/j.urology.2019.12.014. PMID: 31883875
Wong YS, Tam YH, Pang KKY, Yau HC
J Pediatr Surg 2018 Dec;53(12):2498-2501. Epub 2018 Sep 1 doi: 10.1016/j.jpedsurg.2018.08.010. PMID: 30224237
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337

Clinical prediction guides

McElreavey K, Pailhoux E, Bashamboo A
Sex Dev 2022;16(2-3):194-206. Epub 2022 Jul 14 doi: 10.1159/000522004. PMID: 35835064
Sharma KR, Sharma H, Vishnoi J, Sharma RK, Goel S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443335
Ljubicic ML, Jørgensen A, Aksglaede L, Nielsen JE, Albrethsen J, Juul A, Johannsen TH
Front Endocrinol (Lausanne) 2021;12:709954. Epub 2021 Aug 10 doi: 10.3389/fendo.2021.709954. PMID: 34447353Free PMC Article
Sap SNU, Mbono Betoko R, Etoa Etoga M, Mure PY, Morel Y, Dahoun S, Mouafo Tambo F, Moiffo B, Sobngwi E, Koki Ndombo P
J Pediatr Endocrinol Metab 2020 Mar 26;33(3):417-423. doi: 10.1515/jpem-2019-0458. PMID: 32069241
Matsumoto F, Matsuyama S, Matsui F, Yazawa K, Matsuoka K
Urology 2020 Mar;137:157-160. Epub 2019 Dec 27 doi: 10.1016/j.urology.2019.12.014. PMID: 31883875

Recent systematic reviews

Babu R, Shah U
J Pediatr Urol 2021 Feb;17(1):39-47. Epub 2020 Nov 12 doi: 10.1016/j.jpurol.2020.11.017. PMID: 33246831
Taghavi K, Dumble C, Hutson JM, Mushtaq I, Mirjalili SA
J Pediatr Surg 2021 Aug;56(8):1405-1410. Epub 2020 Jun 25 doi: 10.1016/j.jpedsurg.2020.06.023. PMID: 32762939
Pathak M, Suchiang B, Elhence P, Saxena R, Jadhav A, Rathod K, Sinha A
J Pediatr Urol 2020 Oct;16(5):627-634. Epub 2020 Jul 17 doi: 10.1016/j.jpurol.2020.07.011. PMID: 32741641
Nataraja RM, Yeap E, Healy CJ, Nandhra IS, Murphy FL, Hutson JM, Kimber C
Pediatr Surg Int 2018 Mar;34(3):353-361. Epub 2017 Nov 9 doi: 10.1007/s00383-017-4206-0. PMID: 29124402

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