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Disorder of sexual differentiation

MedGen UID:
415936
•Concept ID:
C2930619
•
Disease or Syndrome
Synonyms: Difference of sexual differentiation; Disorder of sex development
SNOMED CT: Disorder of sexual differentiation (39179006)
 
Monarch Initiative: MONDO:0002145
Orphanet: ORPHA90771

Definition

A congenital disorder characterized by abnormalities in the development of the sexual characteristics. [from NCI]

Professional guidelines

PubMed

Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood.
Colindres JV, Axelrad M, McCullough L, Smith EO, Huang GO, Tu DD, Bercaw-Pratt JL, Cheni MJ, Mendiratta M, Gunn S, Sutton R, Macias C, Karaviti LP
Pediatr Endocrinol Rev 2016 Mar;13(3):585-601. PMID: 27116846
Male pseudohermaphroditism: clinical management, diagnosis and treatment.
Hughes IA, Williams DM, Batch JA, Patterson MN
Horm Res 1992;38 Suppl 2:77-81. doi: 10.1159/000182604. PMID: 1292987
The undescended testis. Hormonal and surgical management.
Elder JS
Surg Clin North Am 1988 Oct;68(5):983-1005. doi: 10.1016/s0039-6109(16)44633-5. PMID: 2902694

Recent clinical studies

Etiology

Case Report of Male Pseudohermaphroditism (Androgen Insensitivity Syndrome): Congenital Disorder of Sexual Differentiation.
Patel K, Dessi D, Trivedi S
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116050
Testicular malignancy in persistent Mullerian duct syndrome: Experience from an apex cancer center with review of literature.
Philips MR, Menon AR, Kumar GR, Malik K, Chandrasekaran S, Ramaswamy T, Narayanaswamy K, Raja A
Urol Oncol 2023 May;41(5):258.e1-258.e6. Epub 2023 Apr 3 doi: 10.1016/j.urolonc.2023.02.008. PMID: 37019765
45 years' experience with early childhood anatomical technique of feminising genitoplasty for 46 XX Congenital Adrenal Hyperplasia -observations of vaginal introital anatomy and its relationship to the perineal body.
Hennayake S, Barnes A, Mariotto A, Goyal A, Ajao A, Cserni T, Busby G, Patel L, Skae M, Nicholson J, Bianchi A
J Pediatr Urol 2022 Oct;18(5):611.e1-611.e8. Epub 2022 Jul 19 doi: 10.1016/j.jpurol.2022.07.007. PMID: 35970739
Müllerian remnant malignancy.
Phalen A, Akhavan A, Hall SJ
Urology 2012 Mar;79(3):e38-9. Epub 2012 Jan 13 doi: 10.1016/j.urology.2011.11.016. PMID: 22245297
The undescended testis. Hormonal and surgical management.
Elder JS
Surg Clin North Am 1988 Oct;68(5):983-1005. doi: 10.1016/s0039-6109(16)44633-5. PMID: 2902694

Diagnosis

The radiologist's role in assessing differences of sex development.
Hryhorczuk AL, Phelps AS, Yu RN, Chow JS
Pediatr Radiol 2022 Apr;52(4):752-764. Epub 2021 Aug 5 doi: 10.1007/s00247-021-05147-z. PMID: 34355264
Discordant fetal sex on NIPT and ultrasound.
Smet ME, Scott FP, McLennan AC
Prenat Diagn 2020 Oct;40(11):1353-1365. Epub 2020 Aug 17 doi: 10.1002/pd.5676. PMID: 32125721
The effect of 5α-reductase-2 deficiency on human fertility.
Kang HJ, Imperato-McGinley J, Zhu YS, Rosenwaks Z
Fertil Steril 2014 Feb;101(2):310-6. Epub 2014 Jan 8 doi: 10.1016/j.fertnstert.2013.11.128. PMID: 24412121Free PMC Article
Müllerian remnant malignancy.
Phalen A, Akhavan A, Hall SJ
Urology 2012 Mar;79(3):e38-9. Epub 2012 Jan 13 doi: 10.1016/j.urology.2011.11.016. PMID: 22245297
A newborn infant with a disorder of sexual differentiation.
Stein MT, Sandberg DE, Mazur T, Eugster E, Daaboul J
J Dev Behav Pediatr 2004 Oct;25(5 Suppl):S74-8. doi: 10.1097/00004703-200410001-00015. PMID: 15502538

Therapy

Surgical outcomes and socio-demographic pattern of hypospadias patients treated in a tertiary care center in Kabul, Afghanistan.
Jurat R, Rahimi MT, Barolia R
J Pediatr Urol 2021 Oct;17(5):674.e1-674.e7. Epub 2021 Jun 19 doi: 10.1016/j.jpurol.2021.06.016. PMID: 34226143
POI after chemotherapy and bone marrow transplant may mimic disorders of sexual differentiation - a case report of a patient with primary amenorrhea and 46, XY karyotype.
Kruszewska J, Krzywdzińska S, Grymowicz M, Smolarczyk R, Meczekalski B
Gynecol Endocrinol 2020 Jun;36(6):564-566. Epub 2019 Dec 20 doi: 10.1080/09513590.2019.1703941. PMID: 31858843
5 α-reductase type 2 deficiency: response to dihydrotestosterone gel.
Vupputuri M, Kandepu M, Devireddy HR
Indian J Pediatr 2014 Aug;81(8):821-3. Epub 2013 May 24 doi: 10.1007/s12098-013-1032-9. PMID: 23702801
Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor.
Pitteloud N, Villegas J, Dwyer AA, Crowley WF Jr, McPhaul MJ, Hayes FJ
J Clin Endocrinol Metab 2004 Mar;89(3):1053-8. doi: 10.1210/jc.2003-031373. PMID: 15001585
The undescended testis. Hormonal and surgical management.
Elder JS
Surg Clin North Am 1988 Oct;68(5):983-1005. doi: 10.1016/s0039-6109(16)44633-5. PMID: 2902694

Prognosis

The perineal midsagittal view in male fetuses - pivotal for assessing genitourinary disorders.
Garel J, Blondiaux E, Della Valle V, Guilbaud L, Khachab F, Jouannic JM, Ducou le Pointe H, Garel C
Pediatr Radiol 2020 Apr;50(4):575-582. Epub 2019 Nov 9 doi: 10.1007/s00247-019-04551-w. PMID: 31707446
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia.
Yan M, Dilihuma J, Luo Y, Reyilanmu B, Shen Y, Mireguli M
J Clin Res Pediatr Endocrinol 2019 May 28;11(2):211-217. Epub 2018 Nov 16 doi: 10.4274/jcrpe.galenos.2018.2018.0197. PMID: 30444213Free PMC Article
Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene.
Deeb A, Al Suwaidi H, Ibukunoluwa F, Attia S
J Clin Res Pediatr Endocrinol 2016 Jun 5;8(2):236-40. Epub 2016 Apr 18 doi: 10.4274/jcrpe.2782. PMID: 27086719Free PMC Article
Sex differences in autism: a resting-state fMRI investigation of functional brain connectivity in males and females.
Alaerts K, Swinnen SP, Wenderoth N
Soc Cogn Affect Neurosci 2016 Jun;11(6):1002-16. Epub 2016 Mar 17 doi: 10.1093/scan/nsw027. PMID: 26989195Free PMC Article
Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency.
Grover M, French S, Yazdani P
J Pediatr Endocrinol Metab 2015 Jul;28(7-8):937-41. doi: 10.1515/jpem-2014-0388. PMID: 25781530

Clinical prediction guides

45 years' experience with early childhood anatomical technique of feminising genitoplasty for 46 XX Congenital Adrenal Hyperplasia -observations of vaginal introital anatomy and its relationship to the perineal body.
Hennayake S, Barnes A, Mariotto A, Goyal A, Ajao A, Cserni T, Busby G, Patel L, Skae M, Nicholson J, Bianchi A
J Pediatr Urol 2022 Oct;18(5):611.e1-611.e8. Epub 2022 Jul 19 doi: 10.1016/j.jpurol.2022.07.007. PMID: 35970739
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia.
Yan M, Dilihuma J, Luo Y, Reyilanmu B, Shen Y, Mireguli M
J Clin Res Pediatr Endocrinol 2019 May 28;11(2):211-217. Epub 2018 Nov 16 doi: 10.4274/jcrpe.galenos.2018.2018.0197. PMID: 30444213Free PMC Article
Sex differences in autism: a resting-state fMRI investigation of functional brain connectivity in males and females.
Alaerts K, Swinnen SP, Wenderoth N
Soc Cogn Affect Neurosci 2016 Jun;11(6):1002-16. Epub 2016 Mar 17 doi: 10.1093/scan/nsw027. PMID: 26989195Free PMC Article
Inflatable penile prosthesis technique and outcomes after radial forearm free flap neophalloplasty.
Segal RL, Massanyi EZ, Gupta AD, Gearhart JP, Redett RJ, Bivalacqua TJ, Burnett AL
Int J Impot Res 2015 Mar-Apr;27(2):49-53. Epub 2014 Aug 7 doi: 10.1038/ijir.2014.30. PMID: 25099636
Familial XX chromosomal maleness does not arise from a Y chromosomal translocation.
Ostrer H, Wright G, Clayton M, Skordis N, MacGillivray MH
J Pediatr 1989 Jun;114(6):977-82. doi: 10.1016/s0022-3476(89)80441-x. PMID: 2723912

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