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Conditions, Intersex

MedGen UID:
443848
Concept ID:
C2930618
Congenital Abnormality
Synonyms: Condition, Intersex; Intersex Condition; Intersex Conditions

Definition

An historical term for a variety of abnormalities in sex development that lead to anomalies in the reproductive tract and/or external genitalia. [from MeSH]

Professional guidelines

PubMed

Saulnier KM, Gallois H, Joly Y
J Obstet Gynaecol Can 2021 Mar;43(3):369-371. doi: 10.1016/j.jogc.2020.05.015. PMID: 33640100
Cohen-Kettenis PT, Pfäfflin F
Arch Sex Behav 2010 Apr;39(2):499-513. doi: 10.1007/s10508-009-9562-y. PMID: 19838784
McCullough LB
Adv Exp Med Biol 2002;511:149-65; discussion 165-73. doi: 10.1007/978-1-4615-0621-8_10. PMID: 12575761

Recent clinical studies

Etiology

Chen N, Song S, Bao X, Zhu L
Front Med 2022 Dec;16(6):859-872. Epub 2022 Dec 23 doi: 10.1007/s11684-022-0969-3. PMID: 36562950
Cools M, Nordenström A, Robeva R, Hall J, Westerveld P, Flück C, Köhler B, Berra M, Springer A, Schweizer K, Pasterski V; COST Action BM1303 working group 1
Nat Rev Endocrinol 2018 Jul;14(7):415-429. doi: 10.1038/s41574-018-0010-8. PMID: 29769693Free PMC Article
Witchel SF
Best Pract Res Clin Obstet Gynaecol 2018 Apr;48:90-102. Epub 2017 Nov 22 doi: 10.1016/j.bpobgyn.2017.11.005. PMID: 29503125Free PMC Article
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S; Global DSD Update Consortium
Horm Res Paediatr 2016;85(3):158-80. Epub 2016 Jan 28 doi: 10.1159/000442975. PMID: 26820577
Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group
Arch Dis Child 2006 Jul;91(7):554-63. Epub 2006 Apr 19 doi: 10.1136/adc.2006.098319. PMID: 16624884Free PMC Article

Diagnosis

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
León NY, Reyes AP, Harley VR
Lancet Diabetes Endocrinol 2019 Jul;7(7):560-574. Epub 2019 Feb 22 doi: 10.1016/S2213-8587(18)30339-5. PMID: 30803928
Cools M, Nordenström A, Robeva R, Hall J, Westerveld P, Flück C, Köhler B, Berra M, Springer A, Schweizer K, Pasterski V; COST Action BM1303 working group 1
Nat Rev Endocrinol 2018 Jul;14(7):415-429. doi: 10.1038/s41574-018-0010-8. PMID: 29769693Free PMC Article
Witchel SF
Best Pract Res Clin Obstet Gynaecol 2018 Apr;48:90-102. Epub 2017 Nov 22 doi: 10.1016/j.bpobgyn.2017.11.005. PMID: 29503125Free PMC Article
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S; Global DSD Update Consortium
Horm Res Paediatr 2016;85(3):158-80. Epub 2016 Jan 28 doi: 10.1159/000442975. PMID: 26820577

Therapy

Maher JY, Gomez-Lobo V, Merke DP
Rev Endocr Metab Disord 2023 Feb;24(1):71-83. Epub 2022 Nov 18 doi: 10.1007/s11154-022-09770-5. PMID: 36399318Free PMC Article
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA
Best Pract Res Clin Endocrinol Metab 2015 Aug;29(4):569-80. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.005. PMID: 26303084
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group
Arch Dis Child 2006 Jul;91(7):554-63. Epub 2006 Apr 19 doi: 10.1136/adc.2006.098319. PMID: 16624884Free PMC Article

Prognosis

El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284
Neto FT, Bach PV, Najari BB, Li PS, Goldstein M
Curr Urol Rep 2016 Oct;17(10):70. doi: 10.1007/s11934-016-0627-x. PMID: 27502429
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S; Global DSD Update Consortium
Horm Res Paediatr 2016;85(3):158-80. Epub 2016 Jan 28 doi: 10.1159/000442975. PMID: 26820577
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group
Arch Dis Child 2006 Jul;91(7):554-63. Epub 2006 Apr 19 doi: 10.1136/adc.2006.098319. PMID: 16624884Free PMC Article

Clinical prediction guides

Cadet P
Arch Sex Behav 2024 May;53(5):1667-1679. Epub 2024 May 14 doi: 10.1007/s10508-024-02854-0. PMID: 38744731
van der Straaten S, Springer A, Zecic A, Hebenstreit D, Tonnhofer U, Gawlik A, Baumert M, Szeliga K, Debulpaep S, Desloovere A, Tack L, Smets K, Wasniewska M, Corica D, Calafiore M, Ljubicic ML, Busch AS, Juul A, Nordenström A, Sigurdsson J, Flück CE, Haamberg T, Graf S, Hannema SE, Wolffenbuttel KP, Hiort O, Ahmed SF, Cools M
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz142. PMID: 31665438
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH
Genome Biol 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. PMID: 27899157Free PMC Article
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S; Global DSD Update Consortium
Horm Res Paediatr 2016;85(3):158-80. Epub 2016 Jan 28 doi: 10.1159/000442975. PMID: 26820577
Clayton RN
Baillieres Clin Endocrinol Metab 1996 Jan;10(1):1-8. doi: 10.1016/s0950-351x(96)80250-3. PMID: 8734448

Recent systematic reviews

Yildiz A, Siafis S, Mavridis D, Vieta E, Leucht S
Lancet Psychiatry 2023 Sep;10(9):693-705. doi: 10.1016/S2215-0366(23)00199-2. PMID: 37595997
Bouzy J, Brunelle J, Cohen D, Condat A
Psychiatry Res 2023 May;323:115176. Epub 2023 Mar 28 doi: 10.1016/j.psychres.2023.115176. PMID: 36996732
Noubiap JJ, Nansseu JR, Lontchi-Yimagou E, Nkeck JR, Nyaga UF, Ngouo AT, Tounouga DN, Tianyi FL, Foka AJ, Ndoadoumgue AL, Bigna JJ
Lancet Child Adolesc Health 2022 Mar;6(3):158-170. Epub 2022 Jan 17 doi: 10.1016/S2352-4642(21)00374-6. PMID: 35051409
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Dyrbye LN, Thomas MR, Shanafelt TD
Acad Med 2006 Apr;81(4):354-73. doi: 10.1097/00001888-200604000-00009. PMID: 16565188

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