5-Alpha Reductase Enzyme Deficiency (Conversion of Testosterone to Dihydrotestosterone defects) скачать в хорошем качестве

5-Alpha Reductase Enzyme Deficiency (Conversion of Testosterone to Dihydrotestosterone defects)

5-alpha reductase enzyme deficiency is a rare genetic condition that affects sexual development before birth and during puberty. Here are some key points: Causes Genetic Mutation: Caused by mutations in the SRD5A2 gene, which provides instructions for making the enzyme 5-alpha reductase type 2. Enzyme Function: This enzyme converts testosterone to dihydrotestosterone (DHT), which is crucial for the development of male external genitalia. Symptoms Ambiguous Genitalia: Infants may have genitalia that are not clearly male or female. Micropenis: An unusually small penis. Hypospadias: The urethra opens on the underside of the penis. Puberty Changes: During puberty, affected individuals may develop some secondary male characteristics like increased muscle mass, deepening of the voice, and growth of pubic hair, but they typically do not develop much facial or body hair. Diagnosis Genetic Testing: Identifying mutations in the SRD5A2 gene. Hormonal Tests: Measuring levels of testosterone and DHT. Management Hormonal Therapy: May be used to manage symptoms. Surgical Intervention: In some cases, surgery may be considered to address genital abnormalities. Psychosocial Support: Counseling and support for affected individuals and their families. Prognosis Fertility: Most affected individuals are infertile without assisted reproductive technologies. Health: Generally, individuals with this condition have normal health otherwise #5AlphaReductase