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

Price, Peter M.; Wass, John; Griffin, Jim E.; Leshin, Mark; Savage, Martin O.; Large, D. M.; Bu'lock, D. E.; Anderson, D. C.; Wilson, Jean D.; Besser, G. M.

doi:10.1172/jci111563

Cited by 83 publications

(45 citation statements)

References 33 publications

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“…First, individuals with a complete deletion of the type 2 gene (12) can have serum dihydrotestosterone levels within the normal range (5). Second, the administration oftestosterone to an individual with a splicing mutation in the type 2 gene results in normal serum dihydrotestosterone levels (31 ). These results also suggest that the effective treatment of diseases such as BPH that are caused in part by the action of dihydrotestosterone will require pharmacological inhibition of bothSa-reductase isozymes.…”

Section: Discussionmentioning

confidence: 99%

Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression.

Thigpen¹,

Silver²,

Guileyardo³

et al. 1993

J. Clin. Invest.

661

379

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The synthesis of dihydrotestosterone is catalyzed by steroid 5a-reductase isozymes, designated types 1 and 2. Mutation of type 2 results in male pseudohermaphroditism, in which the external genitalia are phenotypically female at birth. Two striking and unexplained features of this disorder are that external genitalia of affected males undergo virilization during puberty and that these individuals have less temporal hair regression. The tissue-specific and developmental expression patterns of the 5a-reductase isozymes were investigated by immunoblotting. The type 1 isozyme is not detectable in the fetus, is transiently expressed in newborn skin and scalp, and permanently expressed in skin from the time of puberty. There was no qualitative difference in 5a-reductase type 1 expression between adult balding vs. nonbalding scalp. The type 2 isozyme is transiently expressed in skin and scalp of newborns. Type 2 is the predominant isozyme detectable in fetal genital skin, male accessory sex glands, and in the prostate, including benign prostatic hyperplasia and prostate adenocarcinoma tissues. Both isozymes are expressed in the liver, but only after birth. These results are consistent with 5a-reductase type 1 being responsible for virilization in type 2-deficient subjects during puberty, and suggest that the type 2 isozyme may be an initiating factor in development of male pattern baldness. (J. Clin. Invest. 1993. 92:903-910.) Key words: dihydrotestosterone* sexual differentiation * benign prostatic hyperplasia* prostate cancer * male pattern baldness

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Section: Discussionmentioning

confidence: 99%

Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression.

Thigpen¹,

Silver²,

Guileyardo³

et al. 1993

J. Clin. Invest.

661

379

View full text Add to dashboard Cite

show abstract

“…Apart from one successful experience with mesterolone (1a-methylandrostan-17β-ol-3-one) in promoting spermatogenesis and fertility twice in a man with MAIS, 98 experience with long-term natural androgen pharmacotherapy is meager and its value unclear. 44,[99][100][101] …”

Section: Maismentioning

confidence: 99%

Androgen insensitivity syndrome: clinical features and molecular defects

et al. 2008

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The end-organ resistance to androgens has been designated as Androgen Insensitivity Syndrome (AIS), an X-linked disorder caused by mutations in the Androgen Receptor (AR) gene. It is generally accepted that defects in the AR gene prevent the normal development of both internal and external genital structures in 46,XY individuals, causing a variety of phenotypes ranging from male infertility to completely normal female external genitalia. Precise diagnosis requires clinical, hormonal and molecular investigation and is of great importance for appropriate gender assignment and management in general. The complexity of phenotypic presentation of AIS with genotype-phenotype variability of identical mutations complicates both the diagnostic procedure and genetic counseling of the affected families. More than 400 different AR gene mutations have thus far been reported but the receptor structure-function relationship and its phenotypic outcome is not yet fully understood. This review focuses on the clinical features and molecular pathophysiology of AIS and explores the relationship of the molecular defects in the AR gene to their clinical expression.

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“…During puberty, sexual development was towards masculinity. Afterward, these patients underwent transsexual surgeries from femininity to masculinity (7).…”

Section: Discussionmentioning

confidence: 99%

5-Alpha Reductase Deficiency: A Review of Five Cases Diagnosed with Ambiguous Genitalia

Tuzcu¹,

Soylu²,

Tuzcu³

et al. 2017

Turk J Endocrinol Metab

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5-alpha reductase is an enzyme which is responsible for the conversion of testosterone to dihydrotestosterone (DHT) in the peripheral tissues. It plays a key role in the development of male external genitalia. The present study was carried to make a clinical presentation of ve male patients diagnosed with 5-alpha reductase deciency resulting in the developmental disorder of male sexuality as well as to draw attention to the patients' medical history, physical examination and laboratory features. A test group comprising of ve male subjects previously diagnosed with 5-alpha reductase deciency after being hospitalized and a series of examinations between April 2007 and July 2014, were enrolled in the study. Physical examination, hormonal proles, radiological n-dings and karyotype analyses of the patients were carried out and their previous medical history was recorded. All the patients with karyotype 46 XY were raised as a female. They had external genitalia similar to each other and expressed a lower level of DHT. The patients with a disorder of male sex development, who expressed lower levels of dihydrotestosterone, must be checked for 5-alpha reductase deciency. Keywords: 5-alpha reductase deciency, dihydrotestosterone, ambiguous genitalia Dihidrotestosteron (DHT) periferik dokularda testosterondan 5-alfa redüktaz enzimiyle oluşmaktadır. Erkek dış genitalyasının gelişiminde anahtar role sahiptir. Bu çalışmanın amacı, cinsel gelişim bozukluğu nedeniyle kliniğimize yatırılan 5-alfa redüktaz eksikliği tanısı konulmuş olan 5 erkek hastanın klinik durumlarını paylaşmak ve nadir görülen bu hastalığın anamnez, zik muayene, laboratuar özelliklerine dikkat çekmektir. Nisan 2007-Temmuz 2014 tarihleri arasında erkek cinsel gelişim bozukluğu ön tanısıyla yatırılan ve yapılan değerlendirilmeler sonrasında 5-alfa redüktaz eksikliği tanısı konulmuş 5 erkek vaka çalışmaya alınmıştır. Hastaların geçmiş dosyalarından öyküleri, zik muayene özel-likleri, hormon prolleri, radyolojik görüntüleri ve karyotip analiz raporlarına bakıldı. Hastaların hepsi kız çocuk olarak yetiştirilmişti. Tüm hastaların karyotipi 46 XY idi. Dış genital yapıları benzerdi. Bütün hastaların DHT dü-zeyleri düşüktü. Erkek cinsel gelişim bozukluğu olan hastalarda dihidrotestosteron düşük bulunursa 5-alfa redüktaz eksikliği düşünülmelidir. Anahtar kelimeler: 5-alfa redüktaz eksikliği, dihidrotestosteron, ambigus genitalya

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

Cited by 83 publications

References 33 publications

Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression.

Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression.

Androgen insensitivity syndrome: clinical features and molecular defects

5-Alpha Reductase Deficiency: A Review of Five Cases Diagnosed with Ambiguous Genitalia

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