XY Female

Common Name(s)

XY Female

Description for this condition is not yet available.
 

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Condition Specific Organizations

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

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
 

Author(s): Remko Hersmus, Yvonne G van der Zwan, Hans Stoop, Pascal Bernard, Rajini Sreenivasan, J Wolter Oosterhuis, Hennie T Brüggenwirth, Suzan de Boer, Stefan White, Katja P Wolffenbuttel, Marielle Alders, Kenneth McElreavy, Stenvert L S Drop, Vincent R Harley, Leendert H J Looijenga

Journal: PLoS ONE. 2012 ;7(7):e40858.

 

Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in situ (CIS) or gonadoblastoma ...

Last Updated: 20 Jul 2012

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Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth.
 

Author(s): M Cools, P Hoebeke, K P Wolffenbuttel, H Stoop, R Hersmus, M Barbaro, A Wedell, H Brüggenwirth, L H J Looijenga, S L S Drop

Journal: Eur. J. Endocrinol.. 2012 Feb;166(2):341-9.

 

Most patients with NR5A1 (SF-1) mutations and poor virilization at birth are sex-assigned female and receive early gonadectomy. Although studies in pituitary-specific Sf-1 knockout mice suggest hypogonadotropic hypogonadism, little is known about endocrine function at puberty and ...

Last Updated: 20 Jan 2012

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Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.
 

Author(s): Pascal Philibert, Elodie Leprieur, Delphine Zenaty, Elisabeth Thibaud, Michel Polak, Anne-Marie Frances, James Lespinasse, Isabelle Raingeard, Nadège Servant, Françoise Audran, Françoise Paris, Charles Sultan

Journal:

 

Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD) is a frequent reason for consultation in endocrine and gynecology clinics. Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other ...

Last Updated: 2 Apr 2010

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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.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 9 Apr 2014

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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

 

Last Updated: 7 Jul 2014

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Pulsatile GnRH in Anovulatory Infertility
 

Status: Recruiting

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

 

Last Updated: 31 Jul 2014

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