You are called to the nursery to consult on a newborn described to have ambiguous "genitalia". On exam you find a mobile lower abdominal mass and the perineum as seen in the Figures.

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[size=20px]Based on your physical exam findings the most likely diagnosis is

 

A vaginal atresia

 

B urogenital sinus

 

C congenital adrenal hyperplasia

 

D imperforate anus with rectovaginal fistula

 

E cloaca[/size]

E

E

Correct answer:

 

E cloaca

 

This patient has no anal opening and only a single, abnormal perineal opening. Therefore she has a cloaca. The lower abdominal mass is probably an associated hydrocolpos which occurs because the urine draining out the abnormal urethral opening into the common channel of the cloaca is deflected back up into vagina which dilates and is palpable in the lower abdomen.

Two diagnostic for lower abdominal mass:hydrocolpos or bladder distention(urine rétention)

E cloaca