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- Whom to evaluate for DSD during adolescence?
A possibility of DSD should be considered in any phenotypic female who pres-
ent during adolescence with primary amenorrhea, signifi cant virilization, ingui-
nal/labioscrotal mass, or cyclical hematuria. The various presenting
manifestations of DSD during adolescence in a phenotypic female are summa-
rized in the table given below.Presentation Etiology
Primary amenorrhea Turner syndrome
Mullerian agenesis
Complete androgen insensitivity syndrome (CAIS)
46,XY complete gonadal dysgenesis
46,XX complete gonadal dysgenesis
17 α-hydroxylase defi ciency
Peripubertal virilization 5 α-reductase defi ciency type 2
17 β-HSD3 defi ciency
Partial androgen insensitivity syndrome (PAIS)
Ovotesticular DSD
Mixed gonadal dysgenesis (MGD)
Aromatase defi ciency
Inguinal/labioscrotal mass Complete androgen insensitivity syndrome
Partial androgen insensitivity syndrome (PAIS)
17 β-HSD3 defi ciency
Ovotesticular DSD
Cyclical hematuria Ovotesticular DSD
Congenital adrenal hyperplasiaIn addition, DSD should also be considered in boys with delayed puberty and
the causes include Klinefelter’s syndrome, PAIS, and 46,XY gonadal dysgen-
esis (mild variants).- What are the DSDs associated with genital ambiguity and peripubertal
gynecomastia?
The causes of genital ambiguity with peripubertal gynecomastia are partial
androgen insensitivity syndrome (PAIS), androgen biosynthetic defects
(ABSD), ovotesticular disorders (OT-DSD), and rarely Klinefelter’s syndrome
(Fig. 9.14 ).9 Disorders of Sex Development