Familial male pseudohermaphroditism due to 5-alpha-reductase deficiency in a Turkish Village

Akgün, Suat; Ertel, Norman H.; Imperato‐McGinley, Julianne; Sayli, B S; Shackleton, Cedric

doi:10.1016/0002-9343(86)90262-7

Cited by 55 publications

(26 citation statements)

References 18 publications

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“…Previous studies concluded that 5 ␣ -reductase deficiency constitutes to be one of the 2 major underlying etiologies among Egyptian patients with 46,XY DSD [Mazen et al, 1996;Gad et al, 1997]. Apart from large patient cohorts in the Dominican Republic, New Guinea and Turkey [Imperato-McGinley et al, 1974, 1991Akgun et al, 1986], the disorder, in general, has been rarely reported in other populations. In contrast, the number of Egyptian cases, originating from various geographical locations within the country [El-Awady et al, 1989;Mazen et al, 1996Mazen et al, , 2003Essawi et al, 1997;Gad et al, 1997], is large.…”

Section: Discussionmentioning

confidence: 99%

A Study of Gender Outcome of Egyptian Patients with 46,XY Disorder of Sex Development

Ismail¹,

Mazen²

2010

Sex Dev

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Children with disorder of sex development (DSD) may be born with ambiguous genitalia. Decision-making in relation to sex assignment has been perceived as extremely disturbing and difficult to families and health care professionals. This is mainly due to a general paucity of information about the condition and an exaggerated feeling of stigma and shame associated with genital abnormalities. This is the first study in Egypt aimed at studying the psychosexual development and gender outcome of 40 Egyptian patients with 46,XY DSD focusing on the impact of social and religious factors. The patients were subjected to history-taking, pedigree analysis, full clinical examination, and cytogenetic studies. Hormonal, radiological investigations and molecular studies were performed when possible. Accordingly, they were classified into 4 groups: (1) sex chromosome aneuploid DSD (mixed gonadal dysgenesis) and (2) disorders of gonadal development (gonadal dysgenesis); (3) androgen biosynthesis defect (5α-reductase deficiency, 17β-hydroxysteroid dehydrogenase deficiency), and (4) defect in androgen action (androgen insensitivity syndrome). The psychosexual development was assessed using adapted structured questionnaire and the Bem sex role inventory for patients below and above 12 years of age, respectively. Thirty-two patients (80%) were initially assigned as females; 3 patients with gonadal dysgenesis, 1 patient with 5α-reductase deficiency, and 1 patient with androgen insensitivity were reassigned as male. Male reassignment also was recorded in 5 patients with 17β-hydroxysteroid dehydrogenase deficiency and one of them showed sex reversal twice. Gender outcome of our patients is elusive; the social component has a significant impact on the gender outcome in our society, even more than religion. We recommend that in the future more and more patients should be analyzed as well. These studies should be designed to emphasize the quality of life of DSD patients.

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Section: Discussionmentioning

confidence: 99%

A Study of Gender Outcome of Egyptian Patients with 46,XY Disorder of Sex Development

Ismail¹,

Mazen²

2010

Sex Dev

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“…Apart from large patient cohorts in the Dominican Republic, New Guinea and Turkey [Imperato-McGinley et al, 1974, 1991Akgun et al, 1986], the disorder, in general, has been rarely reported in other populations. In contrast, there is a large number of Egyptian cases, originating from various geographical locations within the country [El-Awady et al, 1989;Mazen et al, 1996Mazen et al, , 2003Essawi et al, 1997;.…”

Section: Discussionmentioning

confidence: 99%

Detection of the G34R Mutation in the 5 Alpha Reductase 2 Gene by Allele Specific PCR and Its Linkage to the 89L Allele among Egyptian Cases

Gad

Khairt²,

Mazen³

et al. 2007

Sex Dev

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The 5 alpha-reductase type 2 deficiency is an autosomal recessive disorder of sexual development among 46,XY individuals. In Egypt, there is a prevalence of a G34R disease underlying mutation. This study aimed to devise a rapid diagnostic method based on allele specific PCR (AS-PCR) and a linked polymorphism (V89L). The results showed that one set of primers was capable to differentiate between normal, heterozygous, and affected individuals efficiently. All 34R mutation carrying sequences had 100% linkage to the 89L allele, contrasting normal ones with low 89L frequencies. This linkage infers a founder effect among Egyptians having G34R mutation.

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“…A third group of 12 individuals with 5α-reductase deficiency has been described in a remote village in the Taurus mountain of Turkey [29]. There is no report available regarding the psychology and/or the socialization of these individuals.…”

Section: Variations In Gender Statusmentioning

confidence: 99%

Intersexuality and Alternative Gender Categories in Non-Western Cultures

Lang¹,

Kuhnle

2008

Horm Res Paediatr

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Background: In the Western world, it is widely accepted as natural – and seen almost as a law of nature – that mankind is divided into two sexes or genders – males and females. In many cultures and societies, however, more than two sex and/or gender categories are recognized, which in some instances refer to the biological sex and in others to gender roles and social status. Aims: To give an intercultural comparison of various ways of dealing with gender variance. Methods: In the following paper, we review the anthropological literature during the last 100 years describing individuals who live neither as men nor women in various non-Western cultures. Results: Only rarely, these individuals suffer from disorders of sex development in the modern medical or biological definition: in many if not all societies there have been individuals who are not covered by the gender category of male and female. Conclusion: There thus appears to be a cultural need for people with a special neither-male-nor-female status, which might be classified as ‘gender variance’.

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Familial male pseudohermaphroditism due to 5-alpha-reductase deficiency in a Turkish Village

Cited by 55 publications

References 18 publications

A Study of Gender Outcome of Egyptian Patients with 46,XY Disorder of Sex Development

A Study of Gender Outcome of Egyptian Patients with 46,XY Disorder of Sex Development

Detection of the G34R Mutation in the 5 Alpha Reductase 2 Gene by Allele Specific PCR and Its Linkage to the 89L Allele among Egyptian Cases

Intersexuality and Alternative Gender Categories in Non-Western Cultures

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