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Gonadal dysgenesis, male

MedGen UID:
5361
•Concept ID:
C0018054
•
Disease or Syndrome
Synonyms: 46, XY Gonadal Dysgenesis; 46, XY Gonadal Sex Reversal; Gonadal Dysgenesis, 46, XY; Gonadal Dysgenesis, 46,XY; Sex Reversal, Gonadal, 46, XY
 
HPO: HP:0008668

Definition

Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation. [from HPO]

Conditions with this feature

46,XY sex reversal 7
MedGen UID:
383876
•Concept ID:
C1856273
•
Congenital Abnormality
See: Condition Record
Genito-palato-cardiac syndrome
MedGen UID:
341558
•Concept ID:
C1856466
•
Disease or Syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
See: Condition Record
46,XY sex reversal 7
Genito-palato-cardiac syndrome

Professional guidelines

PubMed

Genetics of cryptorchidism and testicular regression.
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
Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management.
Wolffenbuttel KP, Hersmus R, Stoop H, Biermann K, Hoebeke P, Cools M, Looijenga LH
J Pediatr Urol 2016 Dec;12(6):411-416. Epub 2016 Oct 8 doi: 10.1016/j.jpurol.2016.08.015. PMID: 27769830
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.
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

Ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions in a 17-year-old man.
Papadimas J, Goulis DG, Giannouli C, Papanicolaou A, Tarlatzis B, Bontis JN
Fertil Steril 2001 Dec;76(6):1261-3. doi: 10.1016/s0015-0282(01)02877-1. PMID: 11730762

Diagnosis

Ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions in a 17-year-old man.
Papadimas J, Goulis DG, Giannouli C, Papanicolaou A, Tarlatzis B, Bontis JN
Fertil Steril 2001 Dec;76(6):1261-3. doi: 10.1016/s0015-0282(01)02877-1. PMID: 11730762
45,X/46,XY mosaicism. A clinical review and report of ten cases.
Knudtzon J, Aarskog D
Eur J Pediatr 1987 May;146(3):266-71. doi: 10.1007/BF00716471. PMID: 3595646

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