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Endocrine Abstracts (2012) 29 P27

Hospital Universitario y Politécnico La Fe, Valencia, Spain.


The Nonclassical Congenital Adrenal Hyperplasia (NCCAH) is an autosomal recessive disorder. The importance of the diagnosis in fertile women relies in its therapeutic implications, genetic counseling and antenatal care during pregnancy. Diagnosis is established by the presence of basal 17-OH-progesterone (17-OHP) levels ≧6 ng/ml or stimulated after ACTH test ≧15 ng/ml. Basal values between 2-6 ng/ml or stimulated between 10–15 ng/ml would require further confirmation.

To study the correlation between the result of basal and/or stimulated 17-OHP and the presence and type of mutation in the 21-hydroxylase’s gene.

Descriptive study of the genetics of 11 women diagnosed analytically of NCCAH with basal 17-OHP≧6 ng/ml or stimulated ≧10 ng/ml. Molecular genetic study of 21-hidroxilase gene was requested. Patients were divided into 2 groups. A: those with basal 17-OHP ≧6 ng/ml and/or stimulated ≧15 ng/ml (highly suggestive of diagnosis of NCCAH). B: those with basal 17-OHP<6 ng/ml and/or stimulated 10–15 ng/ml (uncertain diagnosis).

Results are shown on table.

- In our serie with an uncertain analytical diagnosis of NCCAH, the genetic study did not confirm the disease and it revealed three carriers of a mutated allele (mild mutation).

- A patient with basal 17-OHP of 7.5 ng/mL had a severe mutation.

- The genetic study is necessary to identify those pregnant women who would benefit from antenatal treatment.

Number of participants N=11Group AGroup B
Basal 17-OH-P ng/mL (mean±SD) n=117.9±8.32.3±1.1
S timulated 17-OH-P ng/mL (mean±SD) n=950.8±22.712.1±1.0
Genetics
Normal03
1 mutated allele10
2 mild mutants alleles30
1 mild mutant allele and 1 severe mutant allele10

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

Volume 29

15th International & 14th European Congress of Endocrinology

European Society of Endocrinology 

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