Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X.
METHODS
It is presented the phenotype of a new compound heterozygous mutation of the genes R384X and Q356X encoding the enzyme of 11-beta-hydroxylase.


RESULTS
Severe virilization, peripheral hypertension, and early puberty.


RESULTS
Managed with hormone replacement therapy (corticosteroid) and antihypertensive therapy (beta-blocker), resulting in the control of physical changes and levels of arterial tension.


CONCLUSIONS
According to the phenotypic characteristics of the patient, it is inferred that theR384Xmutation carries an additional burden on theQ356Xmutation, with the latter previously described as a cause of 11-beta-hydroxylase deficiency. The description of a new genotype, as in this case, expands the understanding of the hereditary burden and deciphers the various factors that lead to this pathology as well as the other forms of congenital adrenal hyperplasia (CAH), presenting with a broad spectrum of clinical presentations. This study highlights the importance of a complete description of the patient's CAH genetic profile as well as their parents' genetic profile.
Instituto Cisalva, Universidad del Valle, Cali, Colombia; Fundación SCISCO, Cali, Colombia.
Audrey Mary
AM
Matallana-Rhoades
Instituto Cisalva, Universidad del Valle, Cali, Colombia.
Juan David
JD
Corredor-Castro
Universidad del Valle, Cali, Colombia; Hospital Universitario del Valle, Cali, Colombia.
Francisco Javier
FJ
Bonilla-Escobar
Instituto Cisalva, Universidad del Valle, Cali, Colombia.
Bony Valentina
BV
Mecias-Cruz
Fundación Clínica Valle del Lili, Cali, Colombia; Fundación Clínica Infantil Club Noel, Cali, Colombia.
Liliana
L
Mejia de Beldjena
D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy / Q000235:genetics*; D002675:Child, Preschool; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D003062:Codon; D064791:Desoxycorticosterone Acetate / Q000097:blood; D005260:Female; D005838:Genotype; D006801:Humans; D059785:Karyotype; D008297:Male; D055118:Medication Adherence; D009154:Mutation; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*; D014770:Virilism / Q000235:genetics
D003062:Codon; D064791:Desoxycorticosterone Acetate; D013252:Steroid 11-beta-Hydroxylase
11-beta-hydroxylase deficiency; Adrenal hyperplasia congenital; Virilism; adrenocorticotropic hormone; hyperplasia adrenal glands; mutation