3-Beta-Hydroxysteroid Dehydrogenase Deficiency WorkupThe postpubertal clinical presentation of 3 beta-hydroxysteroid dehydrogenase deficiency 3B-HSD deficiency is less well-defined for adult pxrtial than for test finale primo soccorso aziendale females, who often present with hirsutism. We describe a male with normal puberty who presented with new-onset partiwl at age Common causes of gynecomastia were excluded. Dehydroepiandrosterone-sulfate DHEA-Sestradiol, estrone, and hour urinary ketosteroid levels were elevated. A feminizing tumor was considered; biochemical tumor markers, chest x-ray, ultrasound of testes, partial 3 beta hydroxysteroid dehydrogenase deficiency abdominal computed tomography CT scan were negative.
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency - Wikipedia
The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones and control salt levels in the body. In the salt-wasting type, hormone production is extremely low. Individuals with this type lose large amounts of sodium in their urine, which can be life-threatening. Individuals affected with the salt-wasting type are usually diagnosed soon after birth due to complications related to a lack of salt reabsorption, including dehydration, poor feeding, and vomiting.
Individuals with the non-classic type have the mildest symptoms and do not experience salt wasting. These abnormalities range from having the opening of the urethra on the underside of the penis hypospadias to having external genitalia that do not look clearly male or female ambiguous genitalia.
The severity of the genital abnormality does not consistently depend on the type of the condition. Females affected with the non-salt-wasting or non-classic types are typically not diagnosed until mid-childhood or puberty, when they may experience irregular menstruation, premature pubic hair growth, and excessive body hair growth hirsutism.
At least 60 affected individuals have been reported. This enzyme is found in the gonads and adrenal glands. Cortisol has numerous functions such as maintaining energy and blood sugar levels, protecting the body from stress, and suppressing inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidney. The retention of salt affects fluid levels and blood pressure. Androgens and estrogen are essential for normal sexual development and reproduction.
Individuals with the salt-wasting type have HSD3B2 gene mutations that result in the production of very little or no enzyme. People with the non-salt-wasting type of this condition have HSD3B2 gene mutations that allow the production of some functional enzyme, although in reduced amounts. 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.
Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. Epub Sep A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase 3beta-HSD gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.
Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. Endocrinol Metab Clin North Am. Epub Jan Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. Epub Feb 5.