XY Female

Common Name(s)

XY Female

Description for this condition is not yet available.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "XY Female" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "XY Female" returned 23 free, full-text research articles on human participants. First 3 results:

Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients.
 

Author(s): Balachandran Saranya, Gunasekaran Bhavani, Brindha Arumugam, Meena Jayashankar, Sathiyavedu Thyagarajan Santhiya

Journal: J. Genet.. 2016 Dec;95(4):911-921.

 

Molecular characterization of 23 cytogenetically confirmed XY females was attempted by screening coding regions of SRY and androgen receptor (AR) genes. Five of the index cases showed sequence variations in various exons of the AR gene: a deletion (n.1911delG) and substitutions n.1761G>A ...

Last Updated: 20 Dec 2016

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Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.
 

Author(s): Sunita M C De Sousa, Karin S Kassahn, Liam C McIntyre, Chan-Eng Chong, Hamish S Scott, David J Torpy

Journal:

 

The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated.

Last Updated: 8 Nov 2016

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A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis.
 

Author(s): Dominique Mannaerts, Joke Muys, Bettina Blaumeiser, Yves Jacquemyn

Journal:

 

Disorders of sexual development are conditions where sexual phenotype and genotype are discordant. Genetic sex is determined at conception as the ovum is fertilised by a spermatozoon that contains either an X or Y chromosome. A complex pathway determined by genes and hormones leads ...

Last Updated: 10 Feb 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "XY Female" returned 1 free, full-text review articles on human participants. First 3 results:

Sex reversal and diaphragmatic hernia in phenotypicaly female sibs with normal XY chromosomes.
 

Author(s): S Manouvrier-Hanu, R Besson, L Cousin, C Jeanpierre, N Kacet, M Cartigny, L Devisme, L Storme, B De Martinville, P Lequien

Journal: J. Med. Genet.. 2000 Apr;37(4):315-8.

 

Last Updated: 16 May 2000

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome
 

Status: Recruiting

Condition Summary: Turner Syndrome; Turner Syndrome Mosaicism, 45, X/46, XX or XY; Turner Syndrome Mosaicism 46,X,I(X)(Q10)/45,X; Turner Syndrome Karyotype 46,X With Abnormal Sex Chromosome , Except I(Xq)

 

Last Updated: 4 Oct 2017

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Pulsatile GnRH in Anovulatory Infertility
 

Status: Recruiting

Condition Summary: Hypogonadotropic Hypogonadism; Amenorrhea; Kallmann's Syndrome

 

Last Updated: 9 Jul 2017

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The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)
 

Status: Recruiting

Condition Summary: Kallmann Syndrome; Hypogonadotropic Hypogonadism; Hypothalamic Amenorrhea; Polycystic Ovarian Syndrome; Precocious Puberty

 

Last Updated: 6 Jul 2016

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