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

Ismail, Samira; Mazen, Inas

doi:10.1159/000317120

Cited by 14 publications

(7 citation statements)

References 72 publications

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“…Other studies in the Middle East, Italy, and Turkey had explored 46XY DSD from different prespectives and reported more or less similar etiology with little variations from our spectrum (7,(30)(31)(32)(33). The expression of the 5-α-reductase iso-enzyme 2 was shown by some molecular studies, as well as some common mutations such as in steroidogenic factor 1 (SF1, NR5A1) and G34R in Egyption patients with 46XY DSD (30,31). A first report of an Italian population emphasized the importance of differential diagnoses in patients with undervirilization.…”

Section: Discussionsupporting

confidence: 57%

“…Moreover, similar to our observation, they found that there were delays in case referrals due to lack of awareness and sociocultural reasons (3). Other studies in the Middle East, Italy, and Turkey had explored 46XY DSD from different prespectives and reported more or less similar etiology with little variations from our spectrum (7,(30)(31)(32)(33). The expression of the 5-α-reductase iso-enzyme 2 was shown by some molecular studies, as well as some common mutations such as in steroidogenic factor 1 (SF1, NR5A1) and G34R in Egyption patients with 46XY DSD (30,31).…”

Section: Discussionmentioning

confidence: 51%

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The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia

Al-Jurayyan

Issa

Otaibi

et al. 2015

Journal of Pediatric Endocrinology and Metabolism

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Section: Discussionsupporting

confidence: 57%

Section: Discussionmentioning

confidence: 51%

The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia

Al-Jurayyan

Issa

Otaibi

et al. 2015

Journal of Pediatric Endocrinology and Metabolism

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“…Like 5 α -RD2 deficiency, people with 17 β HSD-3 deficiency are also born with female or mildly masculinized external genitalia despite having a 46,XY chromosomal complement and possessing testes. Also similar to 5 α -RD2 deficiency, genetic males with 17 β HSD-3 deficiency also exhibit an increased incidence of developing a male GI by adolescence despite their initial female rearing [41, 71]. People with either of these conditions in which the biosynthesis of androgens is inhibited due to an enzyme deficiency may have incomplete or full Wolffian duct development and no Müllerian structures.…”

Section: Gi In Major Subcategories Of 46xy Dsdmentioning

confidence: 99%

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals

Wisniewski

2012

Scientifica

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Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD, provide important opportunities to study gender within individuals for whom biologic components of sex can be discordant with social components of gender. While most studies of gender development in people with 46,XY DSD have historically emphasized the importance of genes and hormones on gender identity and gender role, more recent evidence for a significant role for socialization exists and is considered here. For example, the influence of parents' perceptions of, and reactions to, DSD are considered. Additionally, the impact of treatments for DSD such as receiving gonadal surgeries or genitoplasty to reduce genital ambiguity on the psychological development of people with 46,XY DSD is presented. Finally, the role of multi-disciplinary care including access to peer support for advancing medical, surgical and psychosexual outcomes of children and adults with 46,XY DSD, regardless of sex of rearing, is discussed.

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“…Furthermore, long term outcomes data are lacking for patients with 17βHSD-3 deficiency, especially for those diagnosed at a young age. However, there are a small number of reported cases who were diagnosed in early childhood and retained female gender identity following orchiectomy [10-12]. …”

Section: Introductionmentioning

confidence: 99%

Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

Chuang

Vallerie

Breech

et al. 2013

Int J Pediatr Endocrinol

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Background17β-Hydroxysteroid dehydrogenase type-3 (17βHSD-3) deficiency is a rare cause of 46,XY disorders of sex development. The enzyme converts androstenedione to testosterone, necessary for masculinization of male genitalia in utero. 17βHSD-3 deficiency is frequently diagnosed late, at puberty, following virilization, with consequent female-to-male gender reassignment in 39-64%. The decision for sex of rearing is difficult, especially if diagnosed in early childhood. Consensus guidelines are equivocal or support male gender assignment. Long-term outcomes data to guide decisions are also lacking; however, in the few cases of early diagnosis and orchiectomy, female gender retention appears more likely.We report two patients with 17βHSD-3 deficiency, who presented at unusual ages, in whom female gender was chosen. We performed a focused literature review and summary of gender outcomes in 17βHSD-3 deficiency following early orchiectomy.CasesPatient A was a phenotypic female who presented at one year of age with bilateral inguinal hernias and external female genitalia. Testes were identified at surgery. The karyotype was 46,XY. She was initially diagnosed with complete androgen insensitivity syndrome; however, androgen receptor mutation analysis was negative. Human chorionic gonadotropin stimulation yielded a low testosterone: androstenedione ratio (0.6, normal >0.8). Genetic testing demonstrated compound heterozygosity for two known mutations of the HSD17B3 gene. She underwent bilateral orchiectomy at two years of age.Patient B was born with female genitalia and virilized at 13 years of age. She did not seek evaluation until 22 years of age. Her karyotype was 46,XY. She had bilateral inguinal testes and low testosterone: androstenedione ratio (0.3). HSD17B3 gene sequencing showed her to be a compound heterozygote for two known mutations. She identified herself as female and underwent bilateral orchiectomy and estrogen replacement therapy.ConclusionsThese two patients highlight the complexities of diagnosis and management in 17βHSD-3 deficiency. Although existing data are limited, early orchiectomy is likely to result in retention of female gender identity, avoiding the complications related to virilization in adolescence. As such, it is important to pursue a definitive diagnosis to guide clinical decisions, and to have the support and long term follow up with an inter-disciplinary disorders of sex development team.

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

Cited by 14 publications

References 72 publications

The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia

The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals

Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

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