Learn About Male Pseudohermaphroditism with Gynecomastia
17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.
Mutations in the HSD17B3 gene cause 17-beta hydroxysteroid dehydrogenase 3 deficiency. The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. This enzyme is active in the testes, where it helps to produce testosterone from a weaker precursor androgen called androstenedione.
17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare disorder. Researchers have estimated that this condition occurs in approximately 1 in 147,000 newborns. It is more common in the Arab population of Gaza, where it affects 1 in 200 to 300 people.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Individuals who are genetically male and have two copies of a mutated gene in each cell are affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency. People with two mutations who are genetically female do not usually experience any signs and symptoms of this disorder.
Unity Urology PC
. Dr. Carter is rated as a Distinguished provider by MediFind in the treatment of Male Pseudohermaphroditism with Gynecomastia. His top areas of expertise are Enlarged Prostate (BPH), UPJ Obstruction, Urinary Tract Infection in Children, Ureteroscopy, and Prostatectomy.
Texas Health Family Care
Dr. William Drake has been serving the primary care needs of North Texas families since 1995. He is focused on providing quality preventative medicine as the first line of defense for patients of all ages. Dr. Drake is dedicated to serving his patients by providing personalized health and wellness services through exemplary care, education and research. He is especially passionate about research and treatments in the areas of juvenile and adult diabetes.Dr. Drake earned his medical degree from the University of Michigan in East Lansing. He completed his family medicine residency at The University of Texas Health Science Center at San Antonio. Dr. Drake is a Fellow of the American Academy of Family Physicians and a member of the American Diabetes Association, Juvenile Diabetes Research Foundation, Tarrant County Medical Society, Texas Academy of Family Physicians and Texas Medical Association. Dr. Drake is rated as an Advanced provider by MediFind in the treatment of Male Pseudohermaphroditism with Gynecomastia. His top areas of expertise are Cirrhosis, Xanthoma, Familial Combined Hyperlipidemia, and High Cholesterol.
Texas Health Adult Care
Paul Anthony is a primary care provider, practicing in Internal Medicine and Geriatrics in Plano, Texas. Dr. Anthony is rated as an Advanced provider by MediFind in the treatment of Male Pseudohermaphroditism with Gynecomastia. His top areas of expertise are High Cholesterol, Infant Hyperglycemia, Sitosterolemia, and Vitamin B12 Deficiency Anemia.
Published Date: May 01, 2018
Published By: National Institutes of Health