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43. What are the DSDs that present as primary amenorrhea with virilization during
    peripubertal period?

The DSDs that present as primary amenorrhea with virilization during peripu-

bertal period are partial androgen insensitivity, androgen biosynthetic defect,

5 α-reductase defi ciency, and aromatase defi ciency.

44. What are the DSDs associated with cyclical hematuria?

Cyclical hematuria in patients with DSD represents menstrual bleed.

Presence of functional hypothalamo–pituitary–ovarian axis, intact uterus,

and outfl ow tract, and persistent urogenital sinus are the prerequisites for

cyclical hematuria. The cause of DSD associated with cyclical hematuria is

ovotesticular DSD. However, CAH due to 21-α hydroxylase defi ciency and

11-β hydroxylase defi ciency in a 46,XX female, who is on medical therapy

and have not undergone urogenital reconstructive surgery may also have

cyclical hematuria.

Peritoneal cavity

Peritoneum

Processus

vaginalis

Vas deferens

Testis

Processus

vaginalis

(closed)

Tunica

vaginalis

Fig. 9.15 Obliteration of processus vaginalis during embryogenesis

9 Disorders of Sex Development