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21-Hydroxylase Deficiency
2) SV form:
• These have milder defect with mineralocorticoid secretion sufficient to prevent SW.
• Features:
• Girls present with genital ambiguity, sometimes virilised to the extent of being reared as boys and manifests with cyclical Haematuria during adolescence.
• Boys have peripheral precocious puberty, usually diagnosed very late with significant bone age advancement and compromised final height.
Simple Virilizing Form
AA 6-yr-old girl with congenital virilizing
adrenal hyperplasia. The height age was 8.5
yr, and the bone age was 13 yr.
⚫B Notice the clitoral enlargement and
labial fusion.
⚫C Her 5 yr old brother was not considered to
be abnormal by the parents. The height age
was of 8 yr,and the bone age was 12.5 yr.
