205 top medical experts on Gonadal dysgenesis XX type deafness across 25 countries and 3 U.S. states, including 19 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Gonadal dysgenesis XX type deafness: A rare peroxisomal beta-oxidation disorder characterized by deficiency of peroxisomal D-bifunctional protein, type 1 being caused by deficiency of both dehydrogenase and hydratase activities of the enzyme, and types 2 and 3 by hydratase or dehydrogenase deficiency alone, while type 4 is due to compound heterozygous mutations affecting both units and represents a clinically milder phenotype. Types 1-3 are typically fatal in infancy. Patients present with early onset of generalized hypotonia, seizures, severe global developmental delay, craniofacial dysmorphism (large fontanel, high forehead, hypertelorism, epicanthal folds) and elevated plasma very long chain fatty acids. Variable features include hepatomegaly, polymicrogyria, and cerebral white matter abnormalities, among others.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: deficiency of 17-beta-hydroxysteroid dehydrogenase 4,  Ovarian dysgenesis with sensorineural deafness,  Peroxisomal bifunctional enzyme complex deficiency,  Peroxisomal bifunctional enzyme deficiency,  Perrault syndrome


  

        

                    


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