Fig. 1
Cholesterol metabolism. Defects in the steps of cholesterol metabolism can result in surplus or deficiency of androgens, resulting in abnormal sexual differentiation (Adapted from David Richfield and Mikael Haggstrom under Creative Commons Attribution 3.0 Unported license as published on https://upload.wikimedia.org/wikipedia/commons/thumb/1/13/Steroidogenesis.svg/1245px-Steroidogenesis.svg.png. Downloaded 22 Dec 2013)
(iii)
Cellular defect in cholesterol pathway.
1.
Will cause buildup of testosterone precursors.
2.
This is responsible for virilization of the newborn infant.
(iv)
The degree of virilization of the external genitalia is variable.
1.
Can have massive cliteromegaly with urinary meatus at tip and for all purposes look like a normal male penis.
2.
Bilateral non-palpable UDTs.
3.
Urogenital (UG) sinus.
(a)
The vaginal and urethra share a common channel.
(b)
It is the length of this common channel which ultimately determines the complexity of surgical reconstruction.
(v)
The same cellular defect can cause hypoaldosteronism.
1.
Responsible for salt-wasting.
2.
If untreated will cause circulatory collapse and sudden death, usually in 7–10 days.
(vi)
Pelvic sonography will disclose normal appearing uterus and possibly both ovaries.
(vii)
Normal XX genotype.
(viii)
Once diagnosis is confirmed must begin treatment with corticosteroids and aldosterone if needed.
1.
Lifelong treatment is necessary.
(ix)
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Autosomal recessive inheritance.
1.
Important for genetic counseling.
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