Endocrinology and Auxology of Siblings with Non-Classical Congenital Adrenal Hyperplasia
May 1996
in “
Archives of Disease in Childhood
”
non-classical congenital adrenal hyperplasia NCCAH 21-hydroxylase deficiency virilization 17-OHP bone age BMI Z scores fertility menstrual regularity cosmetic appearance psychological well-being non-classical CAH 21-OH deficiency bone age BMI fertility menstrual regularity cosmetic appearance psychological well-being
TLDR Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
In the 1996 study, researchers examined 10 index cases (9 females, 1 male, aged 3–33 years) with non-classical 21-hydroxylase deficiency (NCCAH) and their 16 siblings. They found that 5 siblings exhibited slight virilization, and 2 females were diagnosed with NCCAH based on stimulated 17-OHP levels, while the other 9 siblings had normal levels. The study revealed that 8 patients were diagnosed within two years of symptom onset, but 4 were diagnosed in adulthood. Before treatment, 7 patients had significantly increased bone age, yet the mean height and BMI Z scores of affected patients did not differ significantly from the normal mean or from their unaffected siblings. The study concluded that siblings of NCCAH patients showing virilization should be tested for the condition, and that NCCAH patients are not at risk of short adult stature despite increased bone age in childhood. The study also emphasized that untreated NCCAH may affect fertility, menstrual regularity, cosmetic appearance, and psychological well-being, rather than growth.
