STEROID 5α-Reductase DEFICIENCY IN MAN

Imperato‐McGinley, Julianne; Guerrero, Luis; Gautier, Teófilo; Peterson, Ralph E.

doi:10.1097/00006254-197505000-00017

Cited by 8 publications

(21 citation statements)

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“…although, in patients with autosomal recessive 5α-reductase deficiency the incidence of hypospadias is 100%. 9 this latter finding emphasizes the risks associated with exposure to 'antiandrogenic' agents. studies from the past 10 years [63][64][65][66][67][68][69] have better defined the genes associated with hypospadias.…”

Section: N a T U R E R E V I E W S U N C O R R E C T E D P R O O Fmentioning

confidence: 86%

“…accordingly, the presence of androgen receptors within the developing penis 23,38,58 is an important correlate with hypospadias elicited via perturbation of androgen action. 9,23,38,52,58,59 Likewise, oestrogen induction of hypospadias is reinforced by the presence of oestrogen receptors α and β and aromatase in the developing rodent and human penises. 10,23,28,38,[60][61][62][63][64] Human studies the case of 'Des sons' is particularly interesting.…”

Section: N a T U R E R E V I E W S U N C O R R E C T E D P R O O Fmentioning

confidence: 99%

“…6,7 agents that have been implicated in the aetiology of hypospadias based upon epidemiological studies in humans and experimental animal studies include progestins, oestrogens, loratidine and various agents that produce an 'androgen blockade' , including phthalates and anti-androgenic fungicides such as vinclozolin and procymidone. [8][9][10][11][12][13][14][15][16][17][18] a persistent question exists concerning the relevance of animal models to human hypospadias.…”

Section: Introductionmentioning

confidence: 99%

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Current understanding of hypospadias: relevance of animal models

et al. 2015

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| Hypospadias is a congenital abnormality of the penile urethra with an incidence of approximately 1:200-1:300 male births, which has doubled over the past three decades. The aetiology of the overwhelming majority of hypospadias remains unknown but appears to be a combination of genetic susceptibility and prenatal exposure to endocrine disruptors. Reliable animal models of hypospadias are required for better understanding of the mechanisms of normal penile urethral formation and hence hypospadias. Mice and/ or rats are generally used for experimental modelling of hypospadias, however these do not fully reflect the human condition. To use these models successfully, researchers must understand the similarities and differences between mouse, rat and human penile anatomy as well as the normal morphogenetic mechanisms of penile development in these species. Despite some important differences, numerous features of animal and human hypospadias are shared: the prevalence of distal penile malformations; disruption of the urethral meatus; disruption of urethra-associated erectile bodies; and a common mechanism of impaired epithelial fusion events. Rat and mouse models of hypospadias are crucial to our understanding of hypospadias to ultimately reduce its incidence through better preventive strategies.

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Section: N a T U R E R E V I E W S U N C O R R E C T E D P R O O Fmentioning

confidence: 86%

Section: N a T U R E R E V I E W S U N C O R R E C T E D P R O O Fmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Current understanding of hypospadias: relevance of animal models

et al. 2015

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“…Before or after the commencement of virilization, affected individuals commonly undergo a change of gender role from female to male; subjects practical, is accomplished. Other patients are castrated in infancy and raised successfully as women (1)(2)(3)(4)(5).…”

Section: Introductionmentioning

confidence: 99%

“…Such virilization might occur on the basis of one or both of two mechanisms. First, all patients with 5a-reductase deficiency characterized to date have some residual 5a-reductase activity measurable either in tissues or in cultured fibroblasts (1,2,(11)(12)(13), and all have some dihydrotestosterone detectable in the circulation, albeit in subnormal levels (1)(2)(3)(4)(5); as a consequence, raising the plasma testosterone above the normal range might result in an increase in dihydrotestosterone formation and/or blood levels to the normal range. Second, if as has been postulated, dihydrotestosterone formation functions in the normal male only as a magnifier of a weak hormonal signal (14), a supraphysiological level of plasma testosterone might in and of itself, by mass action, act to promote virilization that could ordinarily be accomplished by much lower levels of dihydrotestosterone.…”

Section: Introductionmentioning

confidence: 99%

High dose androgen therapy in male pseudohermaphroditism due to 5 alpha-reductase deficiency and disorders of the androgen receptor.

Price¹,

Wass²,

Griffin³

et al. 1984

J. Clin. Invest.

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Abstract. We describe the clinical and biochemical features of six men with male pseudohermaphroditism due to androgen resistance. Each of the subjects had male-gender behavior but incomplete virilization. The underlying defects in androgen metabolism were defined by studies of the 5a-reductase enzyme and the androgen receptor in fibroblasts cultured from biopsies of genital skin. Four of the six have 5a-reductase deficiency, and two have defects of the androgen receptor (the Reifenstein syndrome).The responses of these men to androgen treatment were assessed by monitoring nitrogen balance, plasma luteinizing hormone (LH) values, and clinical parameters of virilization including penile growth, potency and ejaculatory volume, muscle bulk, and growth of body and facial hair. In all of the subjects with 5a-reductase deficiency and one man with the Reifenstein syndrome significant response occurred, as evidenced by nitrogen retention, lowered plasma LH levels, and improved virilization, with doses of parenteral testosterone esters that raised plasma testosterone levels above the normal male range and brought plasma dihydrotestosterone levels into the normal male range. The subject who did not respond with clinical virilization nevertheless showed nitrogen retention in response to acute testosterone Dr. Price was a Medical

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Effect of Testosterone Replacement Therapy on Prostate Tissue in Men With Late-Onset Hypogonadism

Marks¹,

Mazer²,

Mostaghel³

et al. 2006

JAMA

370

236

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These preliminary data suggest that in aging men with late-onset hypogonadism, 6 months of TRT normalizes serum androgen levels but appears to have little effect on prostate tissue androgen levels and cellular functions. Establishment of prostate safety for large populations of older men undergoing longer duration of TRT requires further study. Trial Registration clinicaltrials.gov Identifier: NCT00161304.

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STEROID 5α-Reductase DEFICIENCY IN MAN

Cited by 8 publications

References 0 publications

Current understanding of hypospadias: relevance of animal models

Current understanding of hypospadias: relevance of animal models

High dose androgen therapy in male pseudohermaphroditism due to 5 alpha-reductase deficiency and disorders of the androgen receptor.

Effect of Testosterone Replacement Therapy on Prostate Tissue in Men With Late-Onset Hypogonadism

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