5α-reductases=physiology and pathology

Mowszowicz, Irène; Berthaut, Isabelle; Mestayer, Chidi; Wright, Françoise; Kuttenn, Frédérique; Mauvais-Jarvis, P

doi:10.1007/bf03034623

Cited by 2 publications

(4 citation statements)

References 22 publications

(14 reference statements)

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“…Two genes, encoding isozymes of 5alpha-reductase have been cloned. The two isoforms, 5alpha-reductase 1 and 5alpha-reductase 2 are located on chromosomes 5 (5p15) and 2 (2q23), respectively, and differ in optimal pH, substrate and inhibitor affinities, and tissue expression [29]. The isozymes have 50% homology but differ in their biochemical and pharmacological properties, as well as their pattern of expression [26] ( Table 1).…”

Section: Pathophysiologymentioning

confidence: 98%

“…Under synergic stimulation by SOX9 (SRY-like homeobox 9) and SF-1, the Sertoli precursors begin to proliferate and organizing around germ cells into tubular cords and start secreting anti-Müllerian hormone (AMH) [39,41]. Müllerian inhibitory substance induces regression of the female internal genital structures [7,29]. The hormonal control of the descent of the testes involves the presence of T, DHT, antiMüllerian hormone (AMH), insulin-like factor-3, and a [39].…”

Section: Pathophysiologymentioning

confidence: 99%

“…2). In most androgen target tissues, the first step of androgen action is the 5alpha-reduction of T to DHT [29]. Peripheral conversion of T to DHT is an irreversible reaction catalyzed by the two isozymes of 5alpha-reductase located in the microsomes of the cell [23,41].…”

Section: Pathophysiologymentioning

confidence: 99%

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Practical approach to steroid 5alpha-reductase type 2 deficiency

Cheon

2010

Eur J Pediatr

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The aim of this article is to review the literature on steroid 5alpha-reductase type 2 deficiency (5α-RD2) to provide clinicians with information to guide their management of patients with this disorder. The 5alpha-reductase type 2 is encoded by the 5alpha-reductase type 2 gene (SRD5A2) on chromosome 2 and is predominantly expressed in external genital tissues and the prostate. Mutations of the SRD5A2 gene leads to an uncommon autosomal recessive disorder affecting sexual differentiation in individuals with 46,XY karyotype; their phenotype can range from almost normal female structures to a distinct male phenotype with ambiguous genitalia at birth. These phenotypes result from impaired conversion of testosterone to dihydrotestosterone due to mutations in the SRD5A2 gene. Patients exhibit virilization at puberty without breast development, which is often accompanied by gender identity change from female to male. More than 40 mutations have been reported in all five exons of the SRD5A2 gene. Phenotype-genotype correlations for 5α-RD2 have not been well established. The newborn phenotypes of male pseudohermaphrodites with 5α-RD2, partial androgen insensitivity syndrome (PAIS), or 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) enzyme deficiency may be indistinguishable. We conclude that steroid 5α-RD2 should be included in the differential diagnosis of newborns with 46,XY DSD. It is important that the diagnosis be made in infancy by biochemical and molecular studies before gender assignment or any surgical intervention because these patients should be considered males at birth.

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Section: Pathophysiologymentioning

confidence: 98%

Section: Pathophysiologymentioning

confidence: 99%

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Practical approach to steroid 5alpha-reductase type 2 deficiency

Cheon

2010

Eur J Pediatr

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“…Ce paradoxe peut ~tre lev6 si l'on admet que la sensibilit~ aux androg~nes augmente progressivement avec l'~ge. Deux arguments appuient cette hypoth~se : -l'importance de l'activit6 5a-r~ducta-sique au niveau des fibroblastes de prostates ad~nomateuses par rapport aux contrSles [11,35] -la diminution du volume de ces m~mes prostates trait~es par les inhibiteurs de la 5a r6ductase [33].…”

Section: Hypertrophie Bdnigne De La Prostate (Hbp)unclassified

Androgènes et sexualité masculine

Hafidi

Gharbi

1996

Androl.

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RESUMELa testosterone (T) est indispensable au maintien de la fonction sexuelle chez rhomme. Elle agit sur toutes les composantes de racte sexuel: libido, ~rection et ~jaculation. Au niveau de l'~rection, seules les ~rections spontan~es nocturnes sont androgdnod~pen-dantes ~ rinverse de celles provoqu~es par fantasmes ou par stimulation visuelle.C'est essentiellement sous forme de dihydrotestost~rone (DHT) que rhormone m~le semble exercer ses actions aussi bien au niveau central que p~ri-ph~rique. Une intervention au niveau c~rdbral des estrogbnes(E) produits localement ne peut cependant pas ~tre formellement ~cart~e.Les concentrations de T requises pour le r~tablissement de la fonction sexuelle en cas d'hypogonadisme sont proches de la limite inf~rieure des valeurs normales, le seuil supdrieur d'action de la T sur la sexualit~ -s'il existe-se situerait ~ des niveaux supraphysiologiques.L'androg~nothdrapie des dysfonctionnements sexuels est en pleine ~volu-tion. De nouveaux produits plus perfol~aants et de nouvelles voies d'administration moins astreignantes et plus physiologiques sont en cours d'~valua-tion. De plus raffinement de rexploration des androg~nes plasmatiques associ~ ~ une meilleure comprehension des effets secondaires de la th~ra-peutique androg~nique laissent esp~-rer l'obtention dans un proche avenir d'un consensus autour de l'~largisse-ment du champ d'indications de randrog~nothdrapie.

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5α-reductases=physiology and pathology

Cited by 2 publications

References 22 publications

Practical approach to steroid 5alpha-reductase type 2 deficiency

Practical approach to steroid 5alpha-reductase type 2 deficiency

Androgènes et sexualité masculine

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