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46,XY sex reversal 3(SRXY3)

MedGen UID:: 483746
•Concept ID:: C3489793
•: Congenital Abnormality

Synonyms:	46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE; 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED; DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED; NR5A1-Related 46,XY CGD; NR5A1-related 46,XY complete gonadal dysgenesis; SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE

Gene (location): Gene(s) directly associated with this condition or phenotype.	NR5A1 (9q33.3)

Monarch Initiative:	MONDO:0013066
OMIM®:	612965

Clinical features

From HPO

Gonadal dysgenesis

MedGen UID:: 9075
•Concept ID:: C0018051
•: Congenital Abnormality

A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.

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Clitoral hypertrophy

MedGen UID:: 57848
•Concept ID:: C0156394
•: Finding

Hypertrophy of the clitoris.

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Ambiguous genitalia

MedGen UID:: 78596
•Concept ID:: C0266362
•: Congenital Abnormality

A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale

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Uterine hypoplasia

MedGen UID:: 120575
•Concept ID:: C0266399
•: Congenital Abnormality

Underdevelopment of the uterus.

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Penoscrotal hypospadias

MedGen UID:: 105291
•Concept ID:: C0452147
•: Congenital Abnormality

A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.

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Sex reversal

MedGen UID:: 868596
•Concept ID:: C4022995
•: Finding

Development of the reproductive system is inconsistent with the chromosomal sex.

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Exaggerated rugosity of the labia majora

MedGen UID:: 927583
•Concept ID:: C4293674
•: Anatomical Abnormality

Marked rugae formation of the skin of the labia majora.

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Elevated circulating follicle stimulating hormone level

MedGen UID:: 867192
•Concept ID:: C4021550
•: Finding

An elevated concentration of follicle-stimulating hormone in the blood.

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Elevated circulating luteinizing hormone level

MedGen UID:: 868698
•Concept ID:: C4023101
•: Finding

An elevated concentration of luteinizing hormone in the blood.

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Abnormality of the endocrine system
- Elevated circulating follicle stimulating hormone level
- Elevated circulating luteinizing hormone level
Abnormality of the genitourinary system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

46,XY disorder of gonadal development
- Pure gonadal dysgenesis 46,XY
  - 46,XY sex reversal 3

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

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899 Free PMC Article

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

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46,XY sex reversal 3(SRXY3)

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

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Reviews

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