Importance of the genetic study in fertile women with nonclassical congenital adrenal hyperplasia
M. Rubio-Almanza, S. Navas-de Solis, S. Tenés-Rodrigo, R. Querol Ripoll, A. Pérez-Lázaro, M. del Olmo-García & J. Merino-Torres
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 1015 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-hydroxylases 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 1015 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.
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.