3beta-hydroxysteroid dehydrogenase type 7

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.

Adrenarche is the term for the maturational increase in adrenal androgen production that becomes biochemically apparent as a rise in dehydroepiandrosterone sulfate (DHEAS) at about six years of age in both girls and boys ( figure 1 ). It represents a gradual change in the pattern of adrenal secretory response to corticotropin (adrenocorticotropic hormone, ACTH), characterized by a disproportionate rise of 17-hydroxypregnenolone and dehydroepiandrosterone (DHEA) relative to cortisol. This change primarily occurs in the zona reticularis of the adrenal cortex, the cells of which express a unique pattern of steroidogenic enzymes that includes expression of sulfotransferase 2A1 (SULT2A1), which catalyzes the formation of DHEAS, the major adrenarchal steroid ( figure 2 ). (See "Normal adrenarche" .)  

3beta-hydroxysteroid dehydrogenase type 7

3beta-hydroxysteroid dehydrogenase type 7

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