17-Beta hydroxysteroid dehydrogenase 3 deficiency

Common Name(s)

17-Beta hydroxysteroid dehydrogenase 3 deficiency, 17-Beta hydroxysteroid dehydrogenase deficiency

17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are abnormal in size and/or appearance. During puberty, people with this condition typically go on to develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by mutations in the HSD17B3 gene and is inherited in an autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "17-Beta hydroxysteroid dehydrogenase 3 deficiency" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

Last Updated: 12 Jan 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "17-Beta hydroxysteroid dehydrogenase 3 deficiency" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

http://www.aisdsd.org

Last Updated: 12 Jan 2015

View Details

 

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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 "17-Beta hydroxysteroid dehydrogenase 3 deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.
 

Author(s): Carla Cristina Telles de Sousa Castro, Guilherme Guaragna-Filho, Flavia Leme Calais, Fernanda Borchers Coeli, Ianik Rafaela Lima Leal, Erisvaldo Ferreira Cavalcante-Junior, Isabella Lopes Monlleó, Silma Regina Ferreira Pereira, Roberto Benedito de Paiva E Silva, José Roberto Erbolato Gabiatti, Antonia Paula Marques-de-Faria, Andrea Trevas Maciel-Guerra, Maricilda Palandi De Mello, Gil Guerra-Junior

Journal: Arq Bras Endocrinol Metabol. 2012 Nov;56(8):533-9.

 

The enzyme 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) catalyzes the conversion of androstenedione to testosterone in the testes, and its deficiency is a rare disorder of sex development in 46,XY individuals. It can lead to a wide range of phenotypic features, with variable ...

Last Updated: 8 Jan 2013

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Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management.
 

Author(s): B B Mendonca, M Inacio, I J Arnhold, E M Costa, W Bloise, R M Martin, F T Denes, F A Silva, S Andersson, A Lindqvist, J D Wilson

Journal: Medicine (Baltimore). 2000 Sep;79(5):299-309.

 

Ten male pseudohermaphrodites with 17 beta-hydroxysteroid dehydrogenase 3 (17 beta-HSD3) deficiency were evaluated in 1 clinic with an average follow-up of 10.1 years. The diagnoses were made by demonstrating low to normal serum testosterone levels, high androstenedione levels, and ...

Last Updated: 1 Nov 2000

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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 "17-Beta hydroxysteroid dehydrogenase 3 deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.