XY Female

Common Name(s)

XY Female

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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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 22 free, full-text research articles on human participants. First 3 results:

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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A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome.
 

Author(s): Zofia Helszer, Anita Dmochowska, Edyta Borkowska, Hanna Moczulska, Jolanta Słowikowska-Hilczer, Michał Pietrusiński, Sławomir Jędrzejczyk, Bogdan Kałużewski

Journal: Endokrynol Pol. 2013 ;64(5):398-402.

 

Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD), and are associated with a variety of phenotypes ranging from phenotypic women (Complete Androgen Insensitivity Syndrome or CAIS) to milder degrees of undervirilisation (Partial ...

Last Updated: 4 Nov 2013

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pulsatile GnRH in Anovulatory Infertility
 

Status: Recruiting

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

 

Last Updated: 31 Jul 2014

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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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Administration of Kisspeptin to Subjects With Reproductive Disorders
 

Status: Recruiting

Condition Summary: Hypogonadotropic Hypogonadism; Kallmann Syndrome; GnRH Deficiency; PCOS; Polycystic Ovarian Syndrome; Hyperprolactinemia

 

Last Updated: 14 Oct 2016

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