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48. When to suspect mixed gonadal dysgenesis in a patient with DSD?

Asymmetry of external genitalia/gonads, short stature, and features of Turner

syndrome in a child with DSD suggest the diagnosis of MGD. Asymmetry of

external genitalia refers to well-formed scrotum on one side and hypoplastic

labioscrotal sac on contralateral side, usually with a palpable gonad on the side

of well-formed scrotum. Short stature is present in majority of patients, whereas

Turner stigmata are found in one-third of patients with MGD.

49. When to consider a diagnosis of ovotesticular DSD in a child with ambiguous
    genitalia?

Ovotesticular DSD should be considered in all newborns with genital ambiguity

and asymmetry of external genitalia/gonads or inguinal hernia. In addition, it should

also be suspected in those children who present with genital ambiguity and bilateral

non-palpable gonads, after excluding CAH due to 21α-hydroxylase defi ciency.

During peripubertal period, OT-DSD should be considered in individuals with geni-

tal ambiguity who are reared as boys and present with cyclical hematuria or gyne-

comastia. It should also be pondered in individuals with genital ambiguity who are

reared as girls and present with primary amenorrhea and virilization (Fig. 9.16 ).

a b

c

Fig. 9.16 ( a ) A 22-year-old individual with ovotesticular DSD who presented with cyclical
hematuria. Note the presence of breast development. ( b , c ) Tanner pubic hair stage P 3 , phallus with
chordee, and bilateral non-palpable gonads

9 Disorders of Sex Development