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5α-Reductase-2 deficiency: is gender assignment recommended in infancy? Two case-reports and review of the literature

Published on Feb 8, 2020in Journal of Endocrinological Investigation
· DOI :10.1007/s40618-020-01193-w
Carlotta Cocchetti , J. Ristori7
Estimated H-index: 7
+ 6 AuthorsAlessandra D. Fisher26
Estimated H-index: 26
Abstract
Gender assignment represents one of the most controversial aspects of the clinical management of individuals with Differences of Sex Development, including 5α-Reductase-2 deficiency (SRD5A2). Given the predominant female appearance of external genitalia in individuals with SRD5A2 deficiency, most of them were assigned to the female sex at birth. However, in the last years the high rate of gender role shift from female to male led to recommend a male gender assignment. We here describe two cases of subjects with SRD5A2 deficiency assigned as females at birth, reporting their clinical histories and psychometric evaluations (Body Uneasiness Test, Utrecht Gender Dysphoria Scale, Bem Sex-Role Inventory, Female Sexual Distress Scale Revised, visual analogue scale for gender identity and sexual orientation) performed at the time of referral at the Florence Gender Clinic. Both patients underwent early surgical interventions without being included in the decision-making process. They had to conform to a binary feminine gender role because of social/familiar pressure, with a significant impact on their psychological well-being. Psychometric evaluations identified clinically significant body uneasiness and gender incongruence in both subjects. No sexually related distress and undifferentiated gender role resulted in the first subject and sexually related distress and androgynous gender role resulted in the second subject. The reported cases suggest the possibility to consider a new approach for gender assignment in these individuals, involving them directly in the decision-making process and allowing them to explore their gender identity, also with the help of GnRH analogues to delay pubertal modifications.
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#1R.L.P. Nascimento (UFBA: Federal University of Bahia)
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Summary Background and objective 5-Alpha reductase type 2 deficiency (5-ARD) is a rare disorder of sex development. The lack of 5-alpha reductase, an enzyme that converts testosterone into dihydrotestosterone, results in external genitalia that may appear female, or predominantly male, albeit undervirilized, or, more often, ambiguous. Methods This study describes a series of patients with 5-ARD raised as female, focusing on aspects related to gender identity. Following a retrospective chart revi...
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© 2018 International Society for Sexual Medicine Background: Information on the psychosexual outcome of individuals with disorders of sex development (DSDs) and intersex conditions is of great importance for sex assignment at birth of newborns with DSD. Aim: To assess gender change and gender dysphoria in a large sample of individuals with different DSDs. Methods: A cross-sectional study was conducted in 14 European centers with 1,040 participants (717 female-identifying and 311 male-identifying...
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Abstract Introduction Few studies exist on the psychosexual outcome of homogeneous groups of individuals with 5α-reductase deficiency type 2 (5α-RD-2) and the relation between gender changes and parental hostile and benevolent sexism, which are two components of ambivalent sexism that assume a stereotypical approach toward women in an overtly negative way or a chivalrous, seemingly positive way. Aim To report on the psychosexual outcome of individuals with 5α-RD-2 and to investigate its relation...
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Introduction Disorders of Sex Development (DSD) are a wide range of congenital conditions characterized by an incongruence of components involved in sexual differentiation, including gender psychosexual development. The management of such disorders is complex, and one of the most crucial decision is represented by gender assignment. In fact, the primary goal in DSD is to have a gender assignment consistent with the underlying gender identity in order to prevent the distress related to a forthcom...
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Clinical records (n = 24) with an established diagnosis of 5α-reductase-2 deficiency were reviewed. A previous misdiagnosis was present in about 70% (period from first observation to definitive diagnosis: 9.1 ± 10.8 years), and in 8 children gonadal removal was performed before certain diagnosis. Initial sex assignment was female in 16/24 (67%) and male in 8/24 (33%) cases. After diagnosis, sex re-assignment was performed in 5 babies (4 girls to male sex; 1 boy to female sex). Baseline testoster...
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