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46,XY disorder of sex development

MedGen UID:
414114
•Concept ID:
C2751824
•
Disease or Syndrome
Synonym: 46, XY disorder of sex development (DSD)
SNOMED CT: 46,XY disorder of sex development (880094008)
 
Monarch Initiative: MONDO:0020040
Orphanet: ORPHA98085

Definition

Differences of sex development in individuals with 46,XY karyotype. [from NCI]

Professional guidelines

PubMed

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.
Altinkilic EM, Augsburger P, Pandey AV, Flück CE
J Endocrinol 2024 Sep 1;262(3) Epub 2024 Jul 18 doi: 10.1530/JOE-24-0078. PMID: 38913505
Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.
Alswailem MM, Alzahrani OS, Alghofaili L, Qasem E, Almohanaa M, Alsagheir A, Bin Abbas B, Attia NA, Al Shaikh A, Alzahrani AS
Endocrine 2019 Feb;63(2):361-368. Epub 2018 Sep 29 doi: 10.1007/s12020-018-1767-1. PMID: 30269266

Recent clinical studies

Etiology

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.
Wisniewski AB, Batista RL, Costa EMF, Finlayson C, Sircili MHP, Dénes FT, Domenice S, Mendonca BB
Endocr Rev 2019 Dec 1;40(6):1547-1572. doi: 10.1210/er.2019-00049. PMID: 31365064
Genetic testing of XY newborns with a suspected disorder of sex development.
Alimussina M, Diver LA, McGowan R, Ahmed SF
Curr Opin Pediatr 2018 Aug;30(4):548-557. doi: 10.1097/MOP.0000000000000644. PMID: 29782383
46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.
Mendonca BB, Gomes NL, Costa EM, Inacio M, Martin RM, Nishi MY, Carvalho FM, Tibor FD, Domenice S
J Steroid Biochem Mol Biol 2017 Jan;165(Pt A):79-85. Epub 2016 May 6 doi: 10.1016/j.jsbmb.2016.05.002. PMID: 27163392
Steroid 5α-reductase 2 deficiency.
Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD
J Steroid Biochem Mol Biol 2016 Oct;163:206-11. Epub 2016 May 22 doi: 10.1016/j.jsbmb.2016.05.020. PMID: 27224879
Studies of a cohort of 46,XY with DSD including steroid biosynthesis deficiencies.
Morel Y, Plotton I, Mallet D, Nicolino M, Bertrand AM, David M, Nihoul-Fekete C, Chatelain P
Adv Exp Med Biol 2011;707:15-7. doi: 10.1007/978-1-4419-8002-1_4. PMID: 21691946

Diagnosis

Genetic control of typical and atypical sex development.
Reyes AP, León NY, Frost ER, Harley VR
Nat Rev Urol 2023 Jul;20(7):434-451. Epub 2023 Apr 5 doi: 10.1038/s41585-023-00754-x. PMID: 37020056
Evaluations for Wilms tumor and late-onset nephrotic syndrome in 46,XY DSD.
Koizumi M, Ida S, Etani Y, Kawai M
Pediatr Int 2023 Jan;65(1):e15418. doi: 10.1111/ped.15418. PMID: 36382929
Male assignment in 5α-reductase type 2 deficiency with female external genitalia.
Konishi A, Ida S, Matsui F, Etani Y, Kawai M
Pediatr Int 2021 May;63(5):592-594. Epub 2021 Mar 25 doi: 10.1111/ped.14447. PMID: 33764589
Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.
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
Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.
Wisniewski AB, Batista RL, Costa EMF, Finlayson C, Sircili MHP, Dénes FT, Domenice S, Mendonca BB
Endocr Rev 2019 Dec 1;40(6):1547-1572. doi: 10.1210/er.2019-00049. PMID: 31365064

Therapy

"Exogenous" 5 Alpha Reductase Deficiency: A Case Report.
Levy B, Teplitsky S, Kalaitzoglou E, Kahler S, Matheny JP, Saltzman AF
Urology 2023 Aug;178:147-150. Epub 2023 May 11 doi: 10.1016/j.urology.2023.05.001. PMID: 37178876
Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry.
Stancampiano MR, Lucas-Herald AK, Bryce J, Russo G, Barera G, Balsamo A, Baronio F, Bertelloni S, Valiani M, Cools M, Tack LJW, Darendeliler F, Poyrazoglu S, Globa E, Grinspon R, Hannema SE, Hughes IA, Tadokoro-Cuccaro R, Thankamony A, Iotova V, Mladenov V, Konrad D, Mazen I, Niedziela M, Kolesinska Z, Nordenström A, Ahmed SF
Sex Dev 2021;15(4):236-243. Epub 2021 Jul 7 doi: 10.1159/000516784. PMID: 34350903
Pure Seminoma and Concurrent Aggressive Lymphoma: Case Report of a Patient With Persistent Müllerian Duct Syndrome.
Bonnet E, Tartas S, Lazareth A, Jaouen A, Tamarelle B, You B, Maillet D
Clin Genitourin Cancer 2019 Apr;17(2):e369-e371. Epub 2018 Dec 5 doi: 10.1016/j.clgc.2018.11.019. PMID: 30587405
Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia.
Bakircioglu ME, Tulay P, Findikli N, Erzik B, Gultomruk M, Bahceci M
J Assist Reprod Genet 2014 Jul;31(7):817-21. Epub 2014 May 3 doi: 10.1007/s10815-014-0241-0. PMID: 24792890Free PMC Article
Hormone resistance at the clinical level.
Hochberg Z
Sci Signal 2010 Oct 12;3(143):pt1. doi: 10.1126/scisignal.3143pt1. PMID: 20940426

Prognosis

Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.
Kouri C, Sommer G, Flück CE
Horm Res Paediatr 2023;96(2):169-179. Epub 2021 Sep 17 doi: 10.1159/000519691. PMID: 34537773
Clinical Utility of Anti-Mullerian Hormone in Pediatrics.
Kanakatti Shankar R, Dowlut-McElroy T, Dauber A, Gomez-Lobo V
J Clin Endocrinol Metab 2022 Jan 18;107(2):309-323. doi: 10.1210/clinem/dgab687. PMID: 34537849Free PMC Article
Heterogeneity of human WT1 gene.
Bielińska E, Matiakowska K, Haus O
Postepy Hig Med Dosw (Online) 2017 Jul 11;71(0):595-601. doi: 10.5604/01.3001.0010.3840. PMID: 28791954
MAMLD1 and 46,XY disorders of sex development.
Ogata T, Sano S, Nagata E, Kato F, Fukami M
Semin Reprod Med 2012 Oct;30(5):410-6. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324725. PMID: 23044878
A model of delivering multi-disciplinary care to people with 46 XY DSD.
Palmer BW, Wisniewski AB, Schaeffer TL, Mallappa A, Tryggestad JB, Krishnan S, Chalmers LJ, Copeland K, Chernausek SD, Reiner WG, Kropp BP
J Pediatr Urol 2012 Feb;8(1):7-16. Epub 2011 Nov 9 doi: 10.1016/j.jpurol.2011.08.013. PMID: 22078657

Clinical prediction guides

Clinical characteristics and surgical treatment of children with 45, X/46, XY differences of sex development.
Peng L, Chen Y, Hu J, Zhao Y, Qin F
J Pediatr Urol 2024 Aug;20(4):696-702. Epub 2024 Mar 7 doi: 10.1016/j.jpurol.2024.03.002. PMID: 38555233
Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.
Kouri C, Sommer G, Flück CE
Horm Res Paediatr 2023;96(2):169-179. Epub 2021 Sep 17 doi: 10.1159/000519691. PMID: 34537773
Clinical Utility of Anti-Mullerian Hormone in Pediatrics.
Kanakatti Shankar R, Dowlut-McElroy T, Dauber A, Gomez-Lobo V
J Clin Endocrinol Metab 2022 Jan 18;107(2):309-323. doi: 10.1210/clinem/dgab687. PMID: 34537849Free PMC Article
5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.
Avendaño A, Paradisi I, Cammarata-Scalisi F, Callea M
Hormones (Athens) 2018 Jun;17(2):197-204. Epub 2018 Apr 20 doi: 10.1007/s42000-018-0013-9. PMID: 29858846
MAMLD1 and 46,XY disorders of sex development.
Ogata T, Sano S, Nagata E, Kato F, Fukami M
Semin Reprod Med 2012 Oct;30(5):410-6. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324725. PMID: 23044878

Recent systematic reviews

17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review.
Krishnappa B, Arya S, Lila AR, Sarathi V, Memon SS, Barnabas R, Kumbhar BV, Bhandare VV, Patil V, Shah NS, Kunwar A, Bandgar T
Clin Endocrinol (Oxf) 2022 Jul;97(1):43-51. Epub 2022 Feb 27 doi: 10.1111/cen.14694. PMID: 35170787
Clinical Utility of Anti-Mullerian Hormone in Pediatrics.
Kanakatti Shankar R, Dowlut-McElroy T, Dauber A, Gomez-Lobo V
J Clin Endocrinol Metab 2022 Jan 18;107(2):309-323. doi: 10.1210/clinem/dgab687. PMID: 34537849Free PMC Article
Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.
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
Mental health outcomes among individuals with 46,XY disorders of sex development: A systematic review.
Godfrey LM
J Health Psychol 2021 Jan;26(1):40-59. Epub 2020 Mar 5 doi: 10.1177/1359105320909863. PMID: 32133887
Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development.
Islam R, Lane S, Williams SA, Becker CM, Conway GS, Creighton SM
Clin Endocrinol (Oxf) 2019 Aug;91(2):237-244. Epub 2019 May 2 doi: 10.1111/cen.13994. PMID: 31004515

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