Clinical_Rounds_in_Endocrinology_Volume_II_-_Pediatric_Endocrinology

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  1. How to assess the psychosexual development of an individual?


Psychosexual development (“behavioural sex”) of an individual comprises of
gender identity, gender role, and gender orientation. “Gender identity” refers to
one’s own perception of his/her gender, as male or female. “Gender role” refers
to the behavior of an individual typical of a male or female. “Gender orienta-
tion” refers to the preference toward male or female as a sexual partner.


  1. What is gender dysphoria?


A condition associated with marked psychosexual distress due to discrepancy
between an individual’s perception of his/her own gender and the assigned sex
of rearing is termed as “gender dysphoria.” It may or may not be associated
with DSDs.


  1. What are the factors that guide gender assignment in patients with genital
    ambiguity?


Type of DSD, appearance of external genitalia, differentiation of internal geni-
talia, age at presentation, feasibility of genital reconstructive surgery, need for
lifelong gonadal steroid replacement, risk for gonadal malignancy, potential for
fertility, and psychosocial development of the patient are the factors that should
be considered prior to gender assignment in an individual with ambiguous geni-
talia. A patient with 46,XX DSD due to 21α-hydroxylase defi ciency CAH
should be reared as female as they have future prospects for normal pubertal
development and fertility. Patients with 46,XY DSD due to 5α-reductase type 2
defi ciency can be reared as male because these patients experience signifi cant
virilization and sex reversal (female to male) during peripubertal period.
Patients with 46,XY DSD due to 17β-HSD3 defi ciency are usually reared as
female as they do not have genital ambiguity; however, few patients with 17β-
HSD3 defi ciency have genital ambiguity and can be reared as male as they
experience signifi cant virilization during peripubertal period. Patients with
46,XY complete gonadal dysgenesis or complete androgen insensitivity are
usually raised as female. The gender assignment in patients with partial andro-
gen insensitivity, androgen biosynthetic defects, and 46,XY partial gonadal
dysgenesis is based on phallic length, feasibility of genital reconstructive
surgery, and gender role. The decision of sex assignment in patients with MGD
and ovotesticular DSD should be individualized (Figs. 9.20 and 9.21 ).

9 Disorders of Sex Development

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