Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042755 (masculinization)
 2,562 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In normal adult male, the intra-muscular hCG-test (5000 I.U. X 3) results in a progressive rise of plasma testosterone and dihydrotestosterone, and in a sharp increase of plasma estradiol followed by a decrease although th hCG stimulation is maintained. In testicular dysgenesis, the testosterone and estradiol responses are variable. In adult male gonadotropin deficiency, basal testosterone is always very low, and rises strongly, under hCG-test, only when previous and recent (less than 10 years) exposure to endogenous or exogenous gonadotropin had induced virilization ; by contrast the defective response of estradiol in all cases provides a reliable estimate of the actual gonadotropin deficiency.
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PMID:[Stimulation of testicular secretion by chorionic gonadotrophin. Results in normal men and in hypogonadic patients]. 126 8

Familial expression of inadequate virilization of 46XY siblings is often reported as an isolated anomaly. We recently evaluated two families with 2 siblings who had a 46XY karyotype, ambiguous genitalia or micropenis, facial anomalies and mental retardation. There is no evidence of gonadotropin deficiency, defects of steroidogenesis, or androgen insensitivity. While there was a testosterone response to human chorionic gonadotropin stimulation in all 3 tested, gonadotropin levels were elevated in 2 of the infants suggestive of faulty seminiferous tubules, 1 of whom later had elevated luteinizing hormone levels. These kindreds may represent a new syndrome with either an X-linked recessive or sex-limited autosomal dominant form of inheritance, with partial testicular failure, multiple congenital anomalies, and mental retardation.
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PMID:46XY siblings with inadequate virilization and CNS deficiency. 322 Apr 58

The treatment of adolescent males with hypogonadism using testosterone is dependent on the underlying diagnosis as well as the patient's and family's preferences. Those with testicular failure, always a pathologic condition, begin lifelong therapy, while short-term therapy is often begun for those who have a delayed puberty. There is a wide variety of testosterone formulations available, with differences in adverse events sometimes associated with the method of administration. The goals of treatment involve stimulating physical puberty, including achievement of virilization, a normal muscle mass and bone mineral density for age, and improvement in psychosocial wellbeing. While androgen therapy results in physical changes of puberty, the potential for fertility must be considered for those with permanent gonadotropin deficiency. in this population, therapy with gonadotropins or gonadotropin releasing hormone may be effective. For those with testicular failure, fertility may be possible but requires assisted reproductive procedures.
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PMID:Treatment of hypogonadism in males. 2468 47