5-Alpha-reductase deficiency in a Saudi "girl"

Punnose, John; Mathew, K. Sukanya; Ahmed, Haroon

doi:10.1136/pgmj.71.841.701

Cited by 2 publications

(1 citation statement)

References 4 publications

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“…All patients in the present study also had a micropenis. In some occasions, patients may be thought to be affected by an inguinal hernia during childhood and, in turn, their testes may be surgically removed (9). It is therefore very important for this disorder to be detected during childhood and it must be followed up with a multidisciplinary approach, also involving the parents.…”

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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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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Gender Change in 46,XY Persons with 5α-Reductase-2 Deficiency and 17β-Hydroxysteroid Dehydrogenase-3 Deficiency

2005

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Individuals with 5alpha-reductase-2 deficiency (5alpha-RD-2) and 17beta-hydroxysteroid dehydrogenase-3 deficiency (17beta-HSD-3) are often raised as girls. Over the past number of years, this policy has been challenged because many individuals with these conditions develop a male gender identity and make a gender role change after puberty. The findings also raised doubts regarding the hypothesis that children are psychosexually neutral at birth and emphasized the potential role of prenatal brain exposure to androgens in gender development. If prenatal exposure to androgens is a major contributor to gender identity development, one would expect that all, or nearly all, affected individuals, even when raised as girls, would develop a male gender identity and make a gender role switch later in life. However, an estimation of the prevalence of gender role changes, based on the current literature, shows that gender role changes occur frequently, but not invariably. Gender role changes were reported in 56-63% of cases with 5alpha-RD-2 and 39-64% of cases with 17beta-HSD-3 who were raised as girls. The changes were usually made in adolescence and early adulthood. In these two syndromes, the degree of external genital masculinization at birth does not seem to be related to gender role changes in a systematic way.

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5-Alpha-reductase deficiency in a Saudi "girl"

Abstract: Letters to the Editor 5-Alpha-reductase deficiency in a Saudi 'girl'

Cited by 2 publications

References 4 publications

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

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

Gender Change in 46,XY Persons with 5α-Reductase-2 Deficiency and 17β-Hydroxysteroid Dehydrogenase-3 Deficiency

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