Male Pseudohermaphroditism with 5-α-Reductase Deficiency: Report of Two New Familial Cases. The Importance of Early Diagnosis

Diosdado, Manuel Aguilar; Gavilan-Villarejo, Inmaculada; Escobar-Jimenez, Luis; Beltrán, Joan; Ja, Girón

doi:10.1515/jpem.1995.8.1.67

Cited by 7 publications

(2 citation statements)

References 11 publications

(1 reference statement)

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“…Not surprisingly, coping with these rare conditions, especially with the unexpected pubertal changes, was highly unsettling and caused psychological problems in all participants. These findings illustrate that “psychic disturbances” occur not only in persons transitioning but also in individuals remaining in the assigned gender (Aguilar-Diosdado et al, 1995). All had noted a sense of difference from other women or men when growing up.…”

Section: Methodsmentioning

confidence: 75%

“…For 17β-HSD-3 deficiency, these studies were conducted in Israel ( n = 15; Rosler, Silverstein, &Abeliovich, 1996) and Brazil ( n = 10; Mendonca et al, 2000). Studies on both conditions from European countries showed sample sizes ranging from one to four (e.g., Aguilar-Diosdado, Gavilán-Villarejo, Escobar-Jiménez, Beltrán, &Grión, 1995; Boudon et al, 1995; Leinonen, Dunkel, Perheentupa, &Vihko, 1983; Wieacker &Von Mühlendahl, 1996). Knowledge about the genetic basis is continuously growing.…”

Section: Androgen Biosynthesis Deficienciesmentioning

confidence: 99%

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Gender identity and coping in female 46, XY adults with androgen biosynthesis deficiency (intersexuality/DSD).

Schweizer¹,

Brünner²,

Schützmann³

et al. 2009

Journal of Counseling Psychology

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Individuals living with an intersex condition have not received much attention in counseling psychology, although a high need for psychosocial care is obvious. Using a mixed-methods multiple case study with qualitative and quantitative data, the authors explore coping and gender experiences in seven 46, XY intersexual persons with deficiencies of androgen biosynthesis. These were assigned female at birth. At puberty, the participants experienced unexpected physical virilization due to 5alpha-reductase-2 (n ϭ 3) and 17beta-hydroxysteroid dehydrogenase-3 deficiency (n ϭ 4). All 7 received medical treatment (e.g., gonadal removal, genital surgery) to stop virilization and maintain the primarily assigned female sex and gender. The cases illustrate high adjustment challenges caused by the condition itself and the medical treatment experienced. None changed to male during adolescence as reported in previous studies. Highly variable patterns of gender identification become visible with subjectivities that do not only represent a binary gender model. Adult gender identity outcome of the participants is characterized by an increased uncertainty of gender identity, high male and low female gender identity. Implications for clinical management, particularly psychological counseling, are drawn.

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Section: Methodsmentioning

confidence: 75%

Section: Androgen Biosynthesis Deficienciesmentioning

confidence: 99%

Gender identity and coping in female 46, XY adults with androgen biosynthesis deficiency (intersexuality/DSD).

Schweizer¹,

Brünner²,

Schützmann³

et al. 2009

Journal of Counseling Psychology

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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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2021

Sexualmedizin

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Male Pseudohermaphroditism with 5-α-Reductase Deficiency: Report of Two New Familial Cases. The Importance of Early Diagnosis

Cited by 7 publications

References 11 publications

Gender identity and coping in female 46, XY adults with androgen biosynthesis deficiency (intersexuality/DSD).

Gender identity and coping in female 46, XY adults with androgen biosynthesis deficiency (intersexuality/DSD).

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

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